Gamuts

Schwartz-Jampel syndrome

Schwartz–Jampel syndrome (SJS) is a rare genetic disease caused by a mutation in the perlecan gene (HSPG2) which causes osteochondrodysplasia associated with myotonia. Most people with Schwartz–Jampel syndrome have a nearly normal life expectancy. [Source: Wikipedia ]

Synonyms
Aberfeld syndrome
Chondrodystrophic myotonia
Osteochondromuscular dystrophy
OrphaNet reference
Schwartz-Jampel syndrome 
Subtypes
Neonatal Schwartz-Jampel syndrome
May Cause
Advanced mastoid pneumatization
Basilar invagination
Blepharophimosis
Bowed bones
Cataract
Clubfoot
Congenital coxa vara
Congenital vertebral abnormality
Congenitally limited joint mobility
Coxa valga
Coxa vara
Elbow dislocation
Eyelid ptosis
Flat femoral head
Fragmented femoral head
Fragmented or irregular femoral head
Immune disorder
Irregular epiphysis
Joint subluxation
Kyphoscoliosis
Late-onset dwarfism
Limited joint mobility
Long thin bones
Low-set ears
Metatarsus adductus
Micrognathia
Microorchidism
Microstomia
Multiple abnormal epiphyses
Muscular atrophy
Myopia
Myotonic disorder
Pectus carinatum
Platyspondyly
Sclerotic epiphysis
Slipped capital femoral epiphysis
Thin epiphyses

Copyright © 2022, Charles E. Kahn, Jr., MD, MS
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