Autosomal dominant brachyolmia

Orpha code: 93304OMIM code: 113500

Definition

A relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood.

Disease data
Classification

Malformation syndrome

Synonyms
Brachyolmia type 3
Brachyolmia typu 3
ORPHA code
93304
OMIM code
113500
ICD10 code
Q76.3
ICD11 code
-

No additional description.

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