Proximal symphalangism

rare

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

Identifiers: MONDO:0008511 Orphanet:3250
Part of: Autosomal dominant disease Congenital limb malformation Symphalangism
Also known as: hereditary absence of proximal interphalangeal joints · proximal symphalangism (disease) · Strasburger-Hawkins-Eldridge syndrome · Strasburger-Hawkins-Eldridge-Hargrave-McKusick syndrome · symphalangism, Cushing type

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
Proximal symphalangism 1A	MONDO:0020733
Symphalangism, proximal, 1B	MONDO:0014125		GDF5

Rare disease

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