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