Proximal symphalangism

Orpha code: 3250OMIM code: 615298

Definition

A rare genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.

Disease data
Classification

Malformation syndrome

Synonyms
Symphalangism, Cushing type
Symfalangizm, typu Cushinga
ORPHA code
3250
OMIM code
615298
ICD10 code
Q70.9
ICD11 code
LB90.Y

No additional description.

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