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Abnormalities, Multiple

Categorical breakdown of terms falling inder the category of Abnormalities, Multiple. Sub categories will become more specific in nature to the terms listed for Abnormalities, Multiple.

Sub-Categories

• Alagille Syndrome
• Alstrom Syndrome
• Angelman Syndrome
• Bardet-Biedl Syndrome
• Barth Syndrome
• Basal Cell Nevus Syndrome
• Beckwith-Wiedemann Syndrome
• Bloom Syndrome
• Branchio-Oto-Renal Syndrome
• Carney Complex
• Cockayne Syndrome
• Costello Syndrome
• Cri-du-Chat Syndrome
• De Lange Syndrome
• Deaf-Blind Disorders
  • Usher Syndromes
  • Wolfram Syndrome
• Donohue Syndrome
• Down Syndrome
• Ectodermal Dysplasia
  • Ectodermal Dysplasia 1, Anhidrotic
  • Ectodermal Dysplasia 3, Anhidrotic
  • Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
  • Ellis-Van Creveld Syndrome
  • Focal Dermal Hypoplasia
  • Neurocutaneous Syndromes
• Gardner Syndrome
• Holoprosencephaly
• Incontinentia Pigmenti
• Isolated Noncompaction of the Ventricular Myocardium
• Laurence-Moon Syndrome
• LEOPARD Syndrome
• Loeys-Dietz Syndrome
• Marfan Syndrome
• Mobius Syndrome
• Monilethrix
• Nail-Patella Syndrome
• Netherton Syndrome
• Nevus, Sebaceous of Jadassohn
• Oculocerebrorenal Syndrome
• Orofaciodigital Syndromes
• Pallister-Hall Syndrome
• POEMS Syndrome
• Prader-Willi Syndrome
• Prolidase Deficiency
• Proteus Syndrome
• Prune Belly Syndrome
• Rubella Syndrome, Congenital
• Rubinstein-Taybi Syndrome
• Short Rib-Polydactyly Syndrome
• Silver-Russell Syndrome
• Smith-Lemli-Opitz Syndrome
• Trichothiodystrophy Syndromes
• Waardenburg's Syndrome
• Weill-Marchesani Syndrome
• Wolf-Hirschhorn Syndrome
• Wolfram Syndrome
• Zellweger Syndrome

Terms

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...

Angelman Syndrome - A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Pres...

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 ...

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...

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...

Carney Complex - Autosomal dominant syndrome characterized by cardiac and cutaneous MYXOMAS; LENTIGINOSIS (spotty pig...

Cockayne Syndrome - A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISOR...

Costello Syndrome - Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial f...

Cri-du-Chat Syndrome - An infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, MENTAL RETAR...

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....

Donohue Syndrome - Rare autosomal recessive syndrome of extreme insulin resistance due to mutations in the binding doma...

Down Syndrome - A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chro...

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 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...

Ellis-Van Creveld Syndrome - Dwarfism occurring in association with defective development of skin, hair, and teeth, polydactyly, ...

Focal Dermal Hypoplasia - A genetic skin disease characterized by hypoplasia of the dermis, herniations of fat, and hand anoma...

Gardner Syndrome - A variant of ADENOMATOUS POLYPOSIS COLI caused by mutation in the APC gene (GENES, APC) on CHROMOSOM...

Holoprosencephaly - Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryoni...

Incontinentia Pigmenti - A genodermatosis occurring mostly in females and characterized by skin changes in three phases - ves...

Isolated Noncompaction of the Ventricular Myocardium - Rare congenital cardiomyopathies characterized by the lack of left ventricular myocardium compaction...

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...

Loeys-Dietz Syndrome - An autosomal dominant aneurysm with multisystem abnormalities caused by increased TGF-BETA signaling...

Marfan Syndrome - An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, an...

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...

Nail-Patella Syndrome - A syndrome of multiple abnormalities characterized by the absence or hypoplasia of the PATELLA and c...

Netherton Syndrome - Rare autosomal recessive disease with variable expressions. Clinical features of the disease include...

Neurocutaneous Syndromes - A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the s...

Nevus, Sebaceous of Jadassohn - A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenita...

Oculocerebrorenal Syndrome - A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, an...

Orofaciodigital Syndromes - Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome...

Pallister-Hall Syndrome - A pleiotropic disorder of human development that comprises hypothalamic HAMARTOMA; central and posta...

POEMS Syndrome - A multisystemic disorder characterized by a sensorimotor polyneuropathy (POLYNEUROPATHIES), organome...

Prader-Willi Syndrome - An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosom...

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 ...

Prune Belly Syndrome - A syndrome characterized by abdominal wall musculature deficiency, cryptorchism, and urinary tract a...

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...

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...

Smith-Lemli-Opitz Syndrome - An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydro...

Trichothiodystrophy Syndromes - Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associa...

Usher Syndromes - Autosomal recessive hereditary disorders characterized by congenital SENSORINEURAL HEARING LOSS and ...

Waardenburg's Syndrome - Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characte...

Weill-Marchesani Syndrome - Rare congenital disorder of connective tissue characterized by brachydactyly, joint stiffness, child...

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...

Zellweger Syndrome - An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 ...

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