Congenital Abnormalities
Categorical breakdown of terms falling inder the category of Congenital Abnormalities. Sub categories will become more specific in nature to the terms listed for Congenital Abnormalities.
Sub-Categories
Terms
Abnormalities, Drug-Induced - Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the m...
Abnormalities, Radiation-Induced - Congenital changes in the morphology of organs produced by exposure to ionizing or non-ionizing radi...
Abnormalities, Severe Teratoid - Marked developmental anomalies of a fetus or infant....
Acrocallosal Syndrome - A condition caused by autosomal recessive gene mutations leading to hypogenesis or absence (agenesis...
Acrocephalosyndactylia - Craniostenosis characterized by acrocephaly and syndactyly, probably occurring as an autosomal domin...
Acrocephalosyndactylia - Craniostenosis characterized by acrocephaly and syndactyly, probably occurring as an autosomal domin...
Acrocephalosyndactylia - Craniostenosis characterized by acrocephaly and syndactyly, probably occurring as an autosomal domin...
Acrocephalosyndactylia - Craniostenosis characterized by acrocephaly and syndactyly, probably occurring as an autosomal domin...
Acrodermatitis - Inflammation involving the skin of the extremities, especially the hands and feet. Several forms are...
Alagille Syndrome - A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTR...
Alagille Syndrome - A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTR...
Alstrom Syndrome - Rare autosomal recessive disease characterized by multiple organ dysfunction. The key clinical featu...
Alstrom Syndrome - Rare autosomal recessive disease characterized by multiple organ dysfunction. The key clinical featu...
Amelogenesis Imperfecta - A clinically and genetically heterogeneous group of hereditary conditions characterized by malformed...
Andersen Syndrome - A form of inherited long QT syndrome (or LQT7) that is characterized by a triad of potassium-sensiti...
Androgen-Insensitivity Syndrome - A familial form of PSEUDOHERMAPHRODITISM transmitted as an X-linked recessive trait. These patients ...
Anencephaly - A malformation of the nervous system caused by failure of the anterior neuropore to close. Infants a...
Anencephaly - A malformation of the nervous system caused by failure of the anterior neuropore to close. Infants a...
Angelman Syndrome - A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Pres...
Angelman Syndrome - A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Pres...
Aniridia - A congenital abnormality in which there is only a rudimentary iris. This is due to the failure of th...
Anodontia - Congenital absence of the teeth; it may involve all (total anodontia) or only some of the teeth (par...
Anophthalmos - Congenital absence of the eye or eyes....
Antley-Bixler Syndrome Phenotype - An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANI...
Anus, Imperforate - A congenital abnormality characterized by the persistence of the anal membrane, resulting in a thin ...
Aortic Coarctation - A birth defect characterized by the narrowing of the AORTA that can be of varying degree and at any ...
Aortopulmonary Septal Defect - A developmental abnormality in which the spiral (aortopulmonary) septum failed to completely divide ...
Arachnodactyly - An abnormal bone development that is characterized by extra long and slender hands and fingers, such...
Arachnoid Cysts - Intracranial or spinal cavities containing a cerebrospinal-like fluid, the wall of which is composed...
Arnold-Chiari Malformation - A group of congenital malformations involving the brainstem, cerebellum, upper spinal cord, and surr...
Arrhythmogenic Right Ventricular Dysplasia - A congenital cardiomyopathy that is characterized by infiltration of adipose and fibrous tissue into...
Arterio-Arterial Fistula - Abnormal communication between two ARTERIES that may result from injury or occur as a congenital abn...
Arteriovenous Fistula - An abnormal direct communication between an artery and a vein without passing through the CAPILLARIE...
Arteriovenous Malformations - Abnormal formation of blood vessels that shunt arterial blood directly into veins without passing th...
Arthrogryposis - Persistent flexure or contracture of a joint. (Dorland, 27th ed)...
Bardet-Biedl Syndrome - An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA; POLYDACTYLY; OBESITY; MENTAL ...
Barth Syndrome - Rare congenital X-linked disorder of lipid metabolism. Barth syndrome is transmitted in an X-linked ...
Barth Syndrome - Rare congenital X-linked disorder of lipid metabolism. Barth syndrome is transmitted in an X-linked ...
Basal Cell Nevus Syndrome - Hereditary disorder consisting of multiple basal cell carcinomas, odontogenic keratocysts, and multi...
Beckwith-Wiedemann Syndrome - A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACR...
Beckwith-Wiedemann Syndrome - A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACR...
Biliary Atresia - Progressive destruction or the absence of all or part of the extrahepatic BILE DUCTS, resulting in t...
Bladder Exstrophy - A birth defect in which the URINARY BLADDER is malformed and exposed, inside out, and protruded thro...
Blepharophimosis - The abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral d...
Bloom Syndrome - An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivi...
Branchio-Oto-Renal Syndrome - An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fi...
Branchio-Oto-Renal Syndrome - An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fi...
Bronchogenic Cyst - A usually spherical cyst, arising as an embryonic out-pouching of the foregut or trachea. It is gene...
Bronchomalacia - A congenital or acquired condition of underdeveloped or degeneration of CARTILAGE in the BRONCHI. Th...
Bronchopulmonary Sequestration - A developmental anomaly in which a mass of nonfunctioning lung tissue lacks normal connection with t...
Campomelic Dysplasia - A congenital disorder of CHONDROGENESIS and OSTEOGENESIS characterized by hypoplasia of endochondral...
Cardiovascular Abnormalities - Congenital, inherited, or acquired anomalies of the CARDIOVASCULAR SYSTEM, including the HEART and B...
Carney Complex - Autosomal dominant syndrome characterized by cardiac and cutaneous MYXOMAS; LENTIGINOSIS (spotty pig...
Carney Complex - Autosomal dominant syndrome characterized by cardiac and cutaneous MYXOMAS; LENTIGINOSIS (spotty pig...
Caroli Disease - Congenital cystic dilatation of the intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC). It consists ...
Central Nervous System Cysts - Congenital or acquired cysts of the brain, spinal cord, or meninges which may remain stable in size ...
Central Nervous System Vascular Malformations - Congenital, inherited, or acquired abnormalities involving ARTERIES; VEINS; or venous sinuses in the...
Central Nervous System Vascular Malformations - Congenital, inherited, or acquired abnormalities involving ARTERIES; VEINS; or venous sinuses in the...
Central Nervous System Venous Angioma - A vascular anomaly characterized by a radial or wedge-shaped arrangement of dilated VEINS draining i...
Cervical Rib Syndrome - A condition associated with compression of the BRACHIAL PLEXUS; SUBCLAVIAN ARTERY; and SUBCLAVIAN VE...
Charcot-Marie-Tooth Disease - A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and ...
Cherubism - A fibro-osseous hereditary disease of the jaws. The swollen jaws and raised eyes give a cherubic app...
Choanal Atresia - A congenital abnormality that is characterized by a blocked CHOANAE, the opening between the nose an...
Choledochal Cyst - A congenital anatomic malformation of a bile duct, including cystic dilatation of the extrahepatic b...
Chromosome Disorders - Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing...
Classical Lissencephalies and Subcortical Band Heterotopias - Disorders comprising a spectrum of brain malformations representing the paradigm of a diffuse neuron...
Classical Lissencephalies and Subcortical Band Heterotopias - Disorders comprising a spectrum of brain malformations representing the paradigm of a diffuse neuron...
Cleft Lip - Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged med...
Cleft Palate - Congenital fissure of the soft and/or hard palate, due to faulty fusion....
Cleft Palate - Congenital fissure of the soft and/or hard palate, due to faulty fusion....
Cleft Palate - Congenital fissure of the soft and/or hard palate, due to faulty fusion....
Cleidocranial Dysplasia - A rare autosomal dominant condition in which there is defective ossification of the cranial bones wi...
Cobblestone Lissencephaly - The smooth pebbled appearance of the CEREBRAL CORTEX with a thickened cortex and reduced and abnorma...
Cobblestone Lissencephaly - The smooth pebbled appearance of the CEREBRAL CORTEX with a thickened cortex and reduced and abnorma...
Cockayne Syndrome - A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISOR...
Colloid Cysts - Benign, congenital, neuroepithelial cysts that are typically filled with a viscous mucus. They usual...
Coloboma - Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of...
Congenital Abnormalities - Malformations of organs or body parts during development in utero....
Cor Triatriatum - A malformation of the heart in which the embryonic common PULMONARY VEIN was not incorporated into t...
Coronary Vessel Anomalies - Malformations of CORONARY VESSELS, either arteries or veins. Included are anomalous origins of coron...
Costello Syndrome - Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial f...
Craniofacial Abnormalities - Congenital structural deformities, malformations, or other abnormalities of the cranium and facial b...
Craniofacial Dysostosis - An autosomal dominant disorder characterized by acrocephaly, exophthalmos, hypertelorism, strabismus...
Craniosynostoses - Premature closure of one or more sutures of the skull....
Craniosynostoses - Premature closure of one or more sutures of the skull....
Cri-du-Chat Syndrome - An infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, MENTAL RETAR...
Cri-du-Chat Syndrome - An infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, MENTAL RETAR...
Crisscross Heart - A developmental malformation of the heart characterized by a twisted but not defective atrioventicul...
Cryptorchidism - A developmental defect in which a TESTIS or both TESTES failed to descend from high in the ABDOMEN t...
Cystic Adenomatoid Malformation of Lung, Congenital - An abnormality in lung development that is characterized by a multicystic mass resulting from an ade...
Dandy-Walker Syndrome - A congenital abnormality of the central nervous system marked by failure of the midline structures o...
De Lange Syndrome - A syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitc...
De Lange Syndrome - A syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitc...
Deaf-Blind Disorders - The absence of both hearing and vision....
Dens in Dente - Anomaly of the tooth, found chiefly in upper lateral incisors. It is characterized by invagination o...
Dental Enamel Hypoplasia - An acquired or hereditary condition due to deficiency in the formation of tooth enamel (AMELOGENESIS...
Dentin Dysplasia - An apparently hereditary disorder of dentin formation, marked by a normal appearance of coronal dent...
Dentinogenesis Imperfecta - An autosomal dominant disorder of tooth development characterized by opalescent dentin resulting in ...
Denys-Drash Syndrome - A rare syndrome characterized by UROGENITAL ABNORMALITIES; GONADAL DYSGENESIS; PSEUDOHERMAPHRODITISM...
Dextrocardia - A congenital defect in which the heart is located on the right side of the THORAX instead of on the ...
Dextrocardia - A congenital defect in which the heart is located on the right side of the THORAX instead of on the ...
Diaphragmatic Eventration - A congenital abnormality characterized by the elevation of the DIAPHRAGM dome. It is the result of a...
DiGeorge Syndrome - Congenital syndrome characterized by a spectrum of malformations including the absence of the THYMUS...
Digestive System Abnormalities - Congenital structural abnormalities of the DIGESTIVE SYSTEM....
Donohue Syndrome - Rare autosomal recessive syndrome of extreme insulin resistance due to mutations in the binding doma...
Double Outlet Right Ventricle - Incomplete transposition of the great vessels in which both the AORTA and the PULMONARY ARTERY arise...
Down Syndrome - A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chro...
Down Syndrome - A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chro...
Ductus Arteriosus, Patent - A congenital heart defect characterized by the persistent opening of fetal DUCTUS ARTERIOSUS that co...
Dysautonomia, Familial - An autosomal disorder of the peripheral and autonomic nervous systems limited to individuals of Ashk...
Dyskeratosis Congenita - A predominantly X-linked recessive syndrome characterized by a triad of reticular skin pigmentation,...
Ebstein Anomaly - A congenital heart defect characterized by downward or apical displacement of the TRICUSPID VALVE, u...
Ectodermal Dysplasia - A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm...
Ectodermal Dysplasia - A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm...
Ectodermal Dysplasia 1, Anhidrotic - An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ECTODYSPL...
Ectodermal Dysplasia 1, Anhidrotic - An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ECTODYSPL...
Ectodermal Dysplasia 3, Anhidrotic - An autosomal dominant form of ectodermal dysplasia which is due to mutations in the gene for the EDA...
Ectodermal Dysplasia 3, Anhidrotic - An autosomal dominant form of ectodermal dysplasia which is due to mutations in the gene for the EDA...
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive - An autosomal recessive form of ectodermal dysplasia which is due to mutations in the gene for the E...
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive - An autosomal recessive form of ectodermal dysplasia which is due to mutations in the gene for the E...
Ectopia Cordis - A rare developmental defect in which the heart is abnormally located partially or totally outside th...
Ectopia Lentis - Congenital displacement of the lens resulting from defective zonule formation....
Ectromelia - Gross hypo- or aplasia of one or more long bones of one or more limbs. The concept includes amelia, ...
Ehlers-Danlos Syndrome - A heterogeneous group of autosomally inherited COLLAGEN DISEASES caused by defects in the synthesis ...
Eisenmenger Complex - A condition associated with VENTRICULAR SEPTAL DEFECT and other congenital heart defects that allow ...
Ellis-Van Creveld Syndrome - Dwarfism occurring in association with defective development of skin, hair, and teeth, polydactyly, ...
Ellis-Van Creveld Syndrome - Dwarfism occurring in association with defective development of skin, hair, and teeth, polydactyly, ...
Encephalocele - Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congen...
Endocardial Cushion Defects - A spectrum of septal defects involving the ATRIAL SEPTUM; VENTRICULAR SEPTUM; and the atrioventricul...
Epidermolysis Bullosa - Group of genetically determined disorders characterized by the blistering of skin and mucosae. There...
Epidermolysis Bullosa Acquisita - Form of epidermolysis bullosa characterized by trauma-induced, subepidermal blistering with no famil...
Epidermolysis Bullosa Dystrophica - Form of epidermolysis bullosa characterized by atrophy of blistered areas, severe scarring, and nail...
Epidermolysis Bullosa Simplex - A form of epidermolysis bullosa characterized by serous bullae that heal without scarring. Mutations...
Epidermolysis Bullosa, Junctional - Form of epidermolysis bullosa having onset at birth or during the neonatal period and transmitted th...
Epispadias - A birth defect due to malformation of the URETHRA in which the urethral opening is above its normal ...
Esophageal Atresia - Congenital abnormality characterized by the lack of full development of the ESOPHAGUS that commonly ...
Eye Abnormalities - Congenital absence of or defects in structures of the eye; may also be hereditary....
Fibromatosis, Gingival - Generalized or localized diffuse fibrous overgrowth of the gingival tissue, usually transmitted as a...
Focal Dermal Hypoplasia - A genetic skin disease characterized by hypoplasia of the dermis, herniations of fat, and hand anoma...
Focal Dermal Hypoplasia - A genetic skin disease characterized by hypoplasia of the dermis, herniations of fat, and hand anoma...
Foot Deformities, Congenital - Alterations or deviations from normal shape or size which result in a disfigurement of the foot occu...
Foramen Ovale, Patent - A condition in which the FORAMEN OVALE in the ATRIAL SEPTUM fails to close shortly after birth. This...
Fragile X Syndrome - A condition characterized genotypically by mutation of the distal end of the long arm of the X chrom...
Frasier Syndrome - A syndrome characterized by CHRONIC KIDNEY FAILURE and GONADAL DYSGENESIS in phenotypic females with...
Freemartinism - A condition occurring in the female offspring of dizygotic twins (TWIN, DIZYGOTIC) in a mixed-sex pr...
Funnel Chest - A developmental anomaly in which the lower sternum is posteriorly dislocated and concavely deformed,...
Fused Teeth - Two teeth united during development by the union of their tooth germs; the teeth may be joined by th...
Gardner Syndrome - A variant of ADENOMATOUS POLYPOSIS COLI caused by mutation in the APC gene (GENES, APC) on CHROMOSOM...
Gastroschisis - A congenital defect with major fissure in the ABDOMINAL WALL lateral to, but not at, the UMBILICUS. ...
Giant Axonal Neuropathy - Rare autosomal recessive disorder of INTERMEDIATE FILAMENT PROTEINS. The disease is caused by mutati...
Goldenhar Syndrome - Mandibulofacial dysostosis with congenital eyelid dermoids....
Gonadal Dysgenesis - A number of syndromes with defective gonadal developments such as streak gonads and dysgenetic teste...
Gonadal Dysgenesis, 46,XX - The 46,XX gonadal dysgenesis may be sporadic or familial. Familial XX gonadal dysgenesis is transmit...
Gonadal Dysgenesis, 46,XY - This type of gonadal defect is characterized by a female phenotype, normal to tall stature, bilatera...
Gonadal Dysgenesis, 46,XY - This type of gonadal defect is characterized by a female phenotype, normal to tall stature, bilatera...
Gonadal Dysgenesis, Mixed - A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic varia...
Gonadal Dysgenesis, Mixed - A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic varia...
Hajdu-Cheney Syndrome - Rare, autosomal dominant syndrome characterized by ACRO-OSTEOLYSIS, generalized OSTEOPOROSIS, and sk...
Hallermann's Syndrome - An oculomandibulofacial syndrome principally characterized by dyscephaly (usually brachycephaly), pa...
Hand Deformities, Congenital - Alterations or deviations from normal shape or size which result in a disfigurement of the hand occu...
Heart Defects, Congenital - Developmental abnormalities involving structures of the heart. These defects are present at birth bu...
Heart Septal Defects - Abnormalities in any part of the HEART SEPTUM resulting in abnormal communication between the left a...
Heart Septal Defects, Atrial - Developmental abnormalities in any portion of the ATRIAL SEPTUM resulting in abnormal communications...
Heart Septal Defects, Ventricular - Developmental abnormalities in any portion of the VENTRICULAR SEPTUM resulting in abnormal communica...
Hemangioma, Cavernous, Central Nervous System - A vascular anomaly composed of a collection of large, thin walled tortuous VEINS that can occur in a...
Hereditary Sensory and Autonomic Neuropathies - A group of inherited disorders characterized by degeneration of dorsal root and autonomic ganglion c...
Hereditary Sensory and Motor Neuropathy - A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Sub...
Hermaphroditism - A state of intersex or sexual ambiguity, involving the GENOTYPE, the GONADS, the reproductive tract,...
Hermaphroditism, True - A rare condition of sexual ambiguity in which the individual possesses gonadal tissues of both SEXES...
Hip Dislocation, Congenital - Congenital dislocation of the hip generally includes subluxation of the femoral head, acetabular dys...
Hirschsprung Disease - Congenital MEGACOLON resulting from the absence of ganglion cells (aganglionosis) in a distal segme...
Holoprosencephaly - Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryoni...
Holoprosencephaly - Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryoni...
Holoprosencephaly - Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryoni...
Holoprosencephaly - Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryoni...
Hydranencephaly - A congenital condition where the greater portions of the cerebral hemispheres and CORPUS STRIATUM ar...
Hydrophthalmos - Congenital open-angle glaucoma that results from dysgenesis of the angle structures accompanied by i...
Hyperkeratosis, Epidermolytic - A form of congenital ichthyosis inherited as an autosomal dominant trait and characterized by ERYTHR...
Hypertelorism - Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sph...
Hypoplastic Left Heart Syndrome - A condition caused by underdevelopment of the whole left half of the heart. It is characterized by h...
Hypospadias - A birth defect due to malformation of the URETHRA in which the urethral opening is below its normal ...
Ichthyosiform Erythroderma, Congenital - Designation for several severe forms of ichthyosis, present at birth, that are characterized by hype...
Ichthyosis - Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to...
Ichthyosis Bullosa of Siemens - An autosomal dominant form of ichthyosis characterized by generalized reddening of the skin (ERYTHEM...
Ichthyosis Vulgaris - Most common form of ICHTHYOSIS characterized by prominent scaling especially on the exterior surface...
Ichthyosis, Lamellar - A chronic, congenital ichthyosis inherited as an autosomal recessive trait. Infants are usually born...
Ichthyosis, X-Linked - Chronic form of ichthyosis that is inherited as a sex-linked recessive trait carried on the X-chromo...
Incontinentia Pigmenti - A genodermatosis occurring mostly in females and characterized by skin changes in three phases - ves...
Incontinentia Pigmenti - A genodermatosis occurring mostly in females and characterized by skin changes in three phases - ves...
Intestinal Atresia - Congenital obliteration of the lumen of the intestine, with the ILEUM involved in 50% of the cases a...
Intracranial Arteriovenous Malformations - Congenital vascular anomalies in the brain characterized by direct communication between an artery a...
Intracranial Arteriovenous Malformations - Congenital vascular anomalies in the brain characterized by direct communication between an artery a...
Intracranial Arteriovenous Malformations - Congenital vascular anomalies in the brain characterized by direct communication between an artery a...
Isolated Noncompaction of the Ventricular Myocardium - Rare congenital cardiomyopathies characterized by the lack of left ventricular myocardium compaction...
Isolated Noncompaction of the Ventricular Myocardium - Rare congenital cardiomyopathies characterized by the lack of left ventricular myocardium compaction...
Jacobsen Distal 11q Deletion Syndrome - A clinically recognized malformation condition caused by a distal 11q deletion. The features of the ...
Jaw Abnormalities - Congenital absence of or defects in structures of the jaw....
Jaw Abnormalities - Congenital absence of or defects in structures of the jaw....
Jervell-Lange Nielsen Syndrome - A form of long QT syndrome that is associated with congenital deafness. It is characterized by abnor...
Kallmann Syndrome - A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defe...
Kartagener Syndrome - An autosomal recessive disorder characterized by a triad of DEXTROCARDIA; INFERTILITY; and SINUSITIS...
Kartagener Syndrome - An autosomal recessive disorder characterized by a triad of DEXTROCARDIA; INFERTILITY; and SINUSITIS...
Kartagener Syndrome - An autosomal recessive disorder characterized by a triad of DEXTROCARDIA; INFERTILITY; and SINUSITIS...
Klinefelter Syndrome - A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, s...
Klinefelter Syndrome - A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, s...
Klippel-Feil Syndrome - A condition characterized by shortness of the neck resulting from reduction in the number of vertebr...
Laryngomalacia - A congenital or acquired condition of underdeveloped or degeneration of CARTILAGE in the LARYNX. Thi...
Laryngostenosis - Developmental or acquired stricture or narrowing of the LARYNX. Symptoms of respiratory difficulty d...
Laurence-Moon Syndrome - An autosomal recessive condition characterized by hypogonadism; spinocerebellar degeneration; MENTAL...
LEOPARD Syndrome - An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abn...
LEOPARD Syndrome - An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abn...
LEOPARD Syndrome - An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abn...
Levocardia - Congenital abnormalities in which the HEART is in the normal position (levocardia) in the left side...
Levocardia - Congenital abnormalities in which the HEART is in the normal position (levocardia) in the left side...
Limb Deformities, Congenital - Congenital structural deformities of the upper and lower extremities collectively or unspecified....
Lingual Goiter - Pathological enlargement of the LINGUAL THYROID, ectopic thyroid tissue at the base of the TONGUE. I...
Lingual Thyroid - A condition characterized by the presence of rudimentary THYROID tissue at the base of the TONGUE. I...
Lissencephaly - A "smooth brain" malformation of the CEREBRAL CORTEX resulting from abnormal location of developing ...
Loeys-Dietz Syndrome - An autosomal dominant aneurysm with multisystem abnormalities caused by increased TGF-BETA signaling...
Long QT Syndrome - A condition that is characterized by episodes of fainting (SYNCOPE) and varying degree of ventricula...
Lower Extremity Deformities, Congenital - Congenital structural abnormalities of the LOWER EXTREMITY....
Lutembacher Syndrome - A condition characterized by a combination of OSTIUM SECUNDUM ATRIAL SEPTAL DEFECT and an acquired M...
Lymphangiectasis, Intestinal - Dilatation of the intestinal lymphatic system usually caused by an obstruction in the intestinal wal...
Lymphatic Abnormalities - Congenital or acquired structural abnormalities of the lymphatic system (LYMPHOID TISSUE) including ...
Macrostomia - Greatly exaggerated width of the mouth, resulting from failure of union of the maxillary and mandibu...
Malformations of Cortical Development - Abnormalities in the development of the CEREBRAL CORTEX. These include malformations arising from ab...
Mandibulofacial Dysostosis - A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is charac...
Marfan Syndrome - An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, an...
Marfan Syndrome - An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, an...
Maxillofacial Abnormalities - Congenital structural deformities, malformations, or other abnormalities of the maxilla and face or ...
Maxillofacial Abnormalities - Congenital structural deformities, malformations, or other abnormalities of the maxilla and face or ...
Meckel Diverticulum - A congenital abnormality characterized by the outpouching or sac formation in the ILEUM. It is a rem...
Meningocele - A congenital or acquired protrusion of the meninges, unaccompanied by neural tissue, through a bony ...
Meningomyelocele - Congenital, or rarely acquired, herniation of meningeal and spinal cord tissue through a bony defect...
Microcephaly - A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, a...
Microcephaly - A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, a...
Micrognathism - Unusual or undue smallness of the jaws. (Dorland, 27th ed)...
Micrognathism - Unusual or undue smallness of the jaws. (Dorland, 27th ed)...
Microphthalmos - Congenital or developmental anomaly in which the eyeballs are abnormally small....
Microstomia - A congenital defect in which the mouth is unusually small. (Dorland, 27th ed)...
Mobius Syndrome - A syndrome of congenital facial paralysis, frequently associated with abducens palsy and other conge...
Monilethrix - Rare autosomal dominant disorder of the hair shaft. The clinical features of the disease include HYP...
Mouth Abnormalities - Congenital absence of or defects in structures of the mouth....
Multicystic Dysplastic Kidney - A nongenetic defect due to malformation of the KIDNEY which appears as a bunch of grapes with multip...
Musculoskeletal Abnormalities - Congenital structural abnormalities and deformities of the musculoskeletal system....
Myocardial Bridging - A malformation that is characterized by a muscle bridge over a segment of the CORONARY ARTERIES. Sys...
Nail-Patella Syndrome - A syndrome of multiple abnormalities characterized by the absence or hypoplasia of the PATELLA and c...
Nephritis, Hereditary - A group of inherited conditions characterized initially by HEMATURIA and slowly progressing to RENAL...
Nervous System Malformations - Structural abnormalities of the central or peripheral nervous system resulting primarily from defect...
Netherton Syndrome - Rare autosomal recessive disease with variable expressions. Clinical features of the disease include...
Netherton Syndrome - Rare autosomal recessive disease with variable expressions. Clinical features of the disease include...
Neural Tube Defects - Congenital malformations of the central nervous system and adjacent structures related to defective ...
Neurocutaneous Syndromes - A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the s...
Neurocutaneous Syndromes - A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the s...
Neuronal Migration Disorders - Disorders resulting from defects in migration of neuronal cells during neurogenesis. Developing nerv...
Nevus, Sebaceous of Jadassohn - A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenita...
Noonan Syndrome - A multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations,...
Oculocerebrorenal Syndrome - A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, an...
Odontodysplasia - A localized arrested tooth development which appears to involve most commonly the anterior teeth, us...
Orofaciodigital Syndromes - Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome...
Orofaciodigital Syndromes - Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome...
Orofaciodigital Syndromes - Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome...
Pachyonychia Congenita - A group of inherited ectodermal dysplasias whose most prominent clinical feature is hypertrophic nai...
Pallister-Hall Syndrome - A pleiotropic disorder of human development that comprises hypothalamic HAMARTOMA; central and posta...
Pallister-Hall Syndrome - A pleiotropic disorder of human development that comprises hypothalamic HAMARTOMA; central and posta...
Periventricular Nodular Heterotopia - A disorder resulting from a defect in the pattern of neuronal migration in which ectopic collections...
Persistent Hyperplastic Primary Vitreous - A developmental ocular anomaly in which the primary VITREOUS BODY and its surrounding hyaloid vascul...
Pierre Robin Syndrome - An autosomal recessive disorder characterized by brachygnathia and cleft palate, often associated wi...
Pierre Robin Syndrome - An autosomal recessive disorder characterized by brachygnathia and cleft palate, often associated wi...
Plagiocephaly, Nonsynostotic - A deformity of the SKULL that is not due to bone fusion (SYNOSTOSIS), such as CRANIOSYNOSTOSES, and ...
Platybasia - A developmental deformity of the occipital bone and upper end of the cervical spine, in which the la...
POEMS Syndrome - A multisystemic disorder characterized by a sensorimotor polyneuropathy (POLYNEUROPATHIES), organome...
Poland Syndrome - A syndrome which is characterized by symbrachydactyly and aplasia of the sternal head of pectoralis ...
Poland Syndrome - A syndrome which is characterized by symbrachydactyly and aplasia of the sternal head of pectoralis ...
Polydactyly - A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits....
Port-Wine Stain - A vascular malformation of developmental origin characterized pathologically by ectasia of superfici...
Prader-Willi Syndrome - An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosom...
Prader-Willi Syndrome - An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosom...
Prognathism - A condition marked by abnormal protrusion of the mandible. (Dorland, 27th ed)...
Prognathism - A condition marked by abnormal protrusion of the mandible. (Dorland, 27th ed)...
Prolidase Deficiency - Rare autosomal recessive disorder of metabolism due to mutations in the prolidase gene. It is charac...
Prolidase Deficiency - Rare autosomal recessive disorder of metabolism due to mutations in the prolidase gene. It is charac...
Proteus Syndrome - Hamartoneoplastic malformation syndrome of uncertain etiology characterized by partial GIGANTISM of ...
Proteus Syndrome - Hamartoneoplastic malformation syndrome of uncertain etiology characterized by partial GIGANTISM of ...
Prune Belly Syndrome - A syndrome characterized by abdominal wall musculature deficiency, cryptorchism, and urinary tract a...
Pseudohermaphroditism - A condition of sexual ambiguity in which the individual (pseudohermaphrodite) possesses gonadal tiss...
Pseudoxanthoma Elasticum - An inherited disorder of connective tissue with extensive degeneration and calcification of ELASTIC ...
Pulmonary Atresia - A congenital heart defect characterized by the narrowing or complete absence of the opening between ...
Refsum Disease - An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SEN...
Respiratory System Abnormalities - Congenital structural abnormalities of the respiratory system....
Retinal Dysplasia - Congenital, often bilateral, retinal abnormality characterized by the arrangement of outer nuclear r...
Retrognathism - Retrusion of the mandible. (Dorland, 27th ed)...
Retrognathism - Retrusion of the mandible. (Dorland, 27th ed)...
Romano-Ward Syndrome - A form of long QT syndrome that is without congenital deafness. It is caused by mutation of the KCNQ...
Rothmund-Thomson Syndrome - An autosomal recessive syndrome occurring principally in females, characterized by the presence of r...
Rubella Syndrome, Congenital - Transplacental infection of the fetus with rubella usually in the first trimester of pregnancy, as a...
Rubinstein-Taybi Syndrome - A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toe...
Rubinstein-Taybi Syndrome - A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toe...
Rubinstein-Taybi Syndrome - A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toe...
Scimitar Syndrome - An anomalous pulmonary venous return in which the right PULMONARY VEIN is not connected to the LEFT ...
Scimitar Syndrome - An anomalous pulmonary venous return in which the right PULMONARY VEIN is not connected to the LEFT ...
Sclerema Neonatorum - A severe, sometimes fatal, disorder of adipose tissue occurring chiefly in preterm or debilitated in...
Septo-Optic Dysplasia - A condition resulting from congenital malformations involving the brain. The syndrome of septo-optic...
Sex Chromosome Disorders - Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS) i...
Sex Differentiation Disorders - Abnormalities in the development of the GONADS, the genital tracts, the external GENITALIA, and gend...
Short Rib-Polydactyly Syndrome - A syndrome inherited as an autosomal recessive trait and incompatible with life. The main features a...
Short Rib-Polydactyly Syndrome - A syndrome inherited as an autosomal recessive trait and incompatible with life. The main features a...
Silver-Russell Syndrome - Genetically and clinically heterogeneous disorder characterized by low birth weight, postnatal growt...
Silver-Russell Syndrome - Genetically and clinically heterogeneous disorder characterized by low birth weight, postnatal growt...
Sinus Pericranii - Rare vascular anomaly involving a communication between the intracranial and extracranial venous cir...
Situs Inversus - A congenital abnormality in which organs in the THORAX and the ABDOMEN are opposite to their normal ...
Sjogren-Larsson Syndrome - An autosomal recessive neurocutaneous disorder characterized by severe ichthyosis MENTAL RETARDATION...
Skin Abnormalities - Congenital structural abnormalities of the skin....
Smith-Lemli-Opitz Syndrome - An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydro...
Spastic Paraplegia, Hereditary - A group of inherited diseases that share similar phenotypes but are genetically diverse. Different g...
Spina Bifida Cystica - A form of spinal dysraphism associated with a protruding cyst made up of either meninges (i.e., a ME...
Spina Bifida Occulta - A common congenital midline defect of fusion of the vertebral arch without protrusion of the spinal ...
Spinal Dysraphism - Congenital defects of closure of one or more vertebral arches, which may be associated with malforma...
Stomatognathic System Abnormalities - Congenital structural abnormalities of the mouth and jaws, including the dentition....
Syndactyly - A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes. Sy...
Syndactyly - A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes. Sy...
Synostosis - A union between adjacent bones or parts of a single bone formed by osseous material, such as ossifie...
Telangiectasia, Hereditary Hemorrhagic - An autosomal dominant vascular anomaly characterized by telangiectases of the skin and mucous membra...
Tetralogy of Fallot - A combination of congenital heart defects consisting of four key features including VENTRICULAR SEPT...
Thanatophoric Dysplasia - A severe form of neonatal dwarfism with very short limbs. All cases have died at birth or later in t...
Thyroid Dysgenesis - Defective development of the THYROID GLAND. This concept includes thyroid agenesis (aplasia), hypopl...
Tooth Abnormalities - Congenital absence of or defects in structures of the teeth....
Tooth, Supernumerary - An extra tooth, erupted or unerupted, resembling or unlike the other teeth in the group to which it ...
Tracheobronchomalacia - A congenital or acquired condition of underdeveloped or degeneration of CARTILAGE in the TRACHEA and...
Tracheobronchomegaly - A rare and probably congenital condition characterized by great enlargement of the lumen of the trac...
Tracheomalacia - A congenital or acquired condition of underdeveloped or degeneration of CARTILAGE in the TRACHEA. Th...
Transposition of Great Vessels - A congenital cardiovascular malformation in which the AORTA arises entirely from the RIGHT VENTRICLE...
Trichothiodystrophy Syndromes - Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associa...
Trichothiodystrophy Syndromes - Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associa...
Tricuspid Atresia - Absence of the orifice between the RIGHT ATRIUM and RIGHT VENTRICLE, with the presence of an atrial ...
Trilogy of Fallot - A combination of congenital heart defects consisting of three key features including ATRIAL SEPTAL D...
Truncus Arteriosus, Persistent - A congenital anomaly caused by the failed development of TRUNCUS ARTERIOSUS into separate AORTA and ...
Tuberous Sclerosis - An autosomal dominant disorder which is generally classified as a phacomatosis. Pathologically, the ...
Turner Syndrome - A syndrome of defective gonadal development in phenotypic women with a karyotype of sex chromosome m...
Turner Syndrome - A syndrome of defective gonadal development in phenotypic women with a karyotype of sex chromosome m...
Upper Extremity Deformities, Congenital - Congenital structural abnormalities of the UPPER EXTREMITY....
Urogenital Abnormalities - Congenital structural abnormalities of the UROGENITAL SYSTEM in either the male or the female....
Usher Syndromes - Autosomal recessive hereditary disorders characterized by congenital SENSORINEURAL HEARING LOSS and ...
Vascular Malformations - A spectrum of congenital, inherited, or acquired abnormalities in BLOOD VESSELS that can adversely a...
Vein of Galen Malformations - Congenital arteriovenous malformation involving the VEIN OF GALEN, a large deep vein at the base of ...
Vein of Galen Malformations - Congenital arteriovenous malformation involving the VEIN OF GALEN, a large deep vein at the base of ...
Vein of Galen Malformations - Congenital arteriovenous malformation involving the VEIN OF GALEN, a large deep vein at the base of ...
Velopharyngeal Insufficiency - Failure of the SOFT PALATE to reach the posterior pharyngeal wall to close the opening between the o...
Waardenburg's Syndrome - Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characte...
WAGR Syndrome - A contiguous gene syndrome associated with hemizygous deletions of chromosome region 11p13. The cond...
WAGR Syndrome - A contiguous gene syndrome associated with hemizygous deletions of chromosome region 11p13. The cond...
WAGR Syndrome - A contiguous gene syndrome associated with hemizygous deletions of chromosome region 11p13. The cond...
Weill-Marchesani Syndrome - Rare congenital disorder of connective tissue characterized by brachydactyly, joint stiffness, child...
Williams Syndrome - A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the...
Wolff-Parkinson-White Syndrome - A form of ventricular pre-excitation characterized by a short PR interval and a long QRS interval wi...
Wolf-Hirschhorn Syndrome - A syndrome caused by large deletions of the telomereic end of the short arm of CHROMOSOME 4 (4p) in ...
Wolf-Hirschhorn Syndrome - A syndrome caused by large deletions of the telomereic end of the short arm of CHROMOSOME 4 (4p) in ...
Wolfram Syndrome - A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIA...
Wolfram Syndrome - A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIA...
Xeroderma Pigmentosum - A rare, pigmentary, and atrophic autosomal recessive disease. It is manifested as an extreme photose...
Zellweger Syndrome - An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 ...
Common Chronic Illnesses
Coronary Disease
An imbalance between myocardial functional requirements and the capacity of the CORONARY VESSELS to supply sufficient blood flow. It is a form of MYOCARDIAL ISCHEMIA (insufficient blood supply to the heart muscle) caused by a decreased capacity of the coronary vessels.
Diabetes Mellitus, Type 1
A subtype of DIABETES MELLITUS that is characterized by INSULIN deficiency. It is manifested by the sudden onset of severe HYPERGLYCEMIA, rapid progression to DIABETIC KETOACIDOSIS, and DEATH unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence.
Diabetes Supplies | Diabetic Groups
Diabetes Mellitus, Type 2
A subclass of DIABETES MELLITUS that is not INSULIN-responsive or dependent (NIDDM). It is characterized initially by INSULIN RESISTANCE and HYPERINSULINEMIA; and eventually by GLUCOSE INTOLERANCE; HYPERGLYCEMIA; and overt diabetes. Type II diabetes mellitus is no longer considered a disease exclusively found in adults. Patients seldom develop KETOSIS but often exhibit OBESITY.
Free Diabetes Supplies
Hypertension
Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more.
Mesothelioma
A tumor derived from mesothelial tissue (peritoneum, pleura, pericardium). It appears as broad sheets of cells, with some regions containing spindle-shaped, sarcoma-like cells and other regions showing adenomatous patterns. Pleural mesotheliomas have been linked to exposure to asbestos. (Dorland, 27th ed)
Osteoarthritis
A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans.
