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Musculoskeletal Abnormalities

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

Sub-Categories

Terms

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...

Antley-Bixler Syndrome Phenotype - An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANI...

Arachnodactyly - An abnormal bone development that is characterized by extra long and slender hands and fingers, such...

Arthrogryposis - Persistent flexure or contracture of a joint. (Dorland, 27th ed)...

Campomelic Dysplasia - A congenital disorder of CHONDROGENESIS and OSTEOGENESIS characterized by hypoplasia of endochondral...

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...

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....

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

Ectromelia - Gross hypo- or aplasia of one or more long bones of one or more limbs. The concept includes amelia, ...

Foot Deformities, Congenital - Alterations or deviations from normal shape or size which result in a disfigurement of the foot occu...

Funnel Chest - A developmental anomaly in which the lower sternum is posteriorly dislocated and concavely deformed,...

Gastroschisis - A congenital defect with major fissure in the ABDOMINAL WALL lateral to, but not at, the UMBILICUS. ...

Goldenhar Syndrome - Mandibulofacial dysostosis with congenital eyelid dermoids....

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...

Hip Dislocation, Congenital - Congenital dislocation of the hip generally includes subluxation of the femoral head, acetabular dys...

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

Hypertelorism - Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sph...

Jaw Abnormalities - Congenital absence of or defects in structures of the jaw....

Klippel-Feil Syndrome - A condition characterized by shortness of the neck resulting from reduction in the number of vertebr...

LEOPARD Syndrome - An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abn...

Limb Deformities, Congenital - Congenital structural deformities of the upper and lower extremities collectively or unspecified....

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

Lower Extremity Deformities, Congenital - Congenital structural abnormalities of the LOWER EXTREMITY....

Mandibulofacial Dysostosis - A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is charac...

Maxillofacial Abnormalities - Congenital structural deformities, malformations, or other abnormalities of the maxilla and face or ...

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)...

Musculoskeletal Abnormalities - Congenital structural abnormalities and deformities of the musculoskeletal system....

Noonan Syndrome - A multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations,...

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...

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...

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....

Prognathism - A condition marked by abnormal protrusion of the mandible. (Dorland, 27th ed)...

Proteus Syndrome - Hamartoneoplastic malformation syndrome of uncertain etiology characterized by partial GIGANTISM of ...

Retrognathism - Retrusion of the mandible. (Dorland, 27th ed)...

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...

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...

Thanatophoric Dysplasia - A severe form of neonatal dwarfism with very short limbs. All cases have died at birth or later in t...

Upper Extremity Deformities, Congenital - Congenital structural abnormalities of the UPPER EXTREMITY....