Osteopenia-intellectual disability-sparse hair syndrome

Orpha code: 2324OMIM code: 259690

Definition

A rare syndrome characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992.

Disease data
Classification

Malformation syndrome

Synonyms
Kaler-Garrity-Stern syndrome
Zespół Kalera, Garrity'ego i Sterna
ORPHA code
2324
OMIM code
259690
ICD10 code
Q87.5
ICD11 code
-

No additional description.

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