Ichthyosis-short stature-brachydactyly-microspherophakia syndrome

Orpha code: 363992OMIM code: 613195

Definition

A rare, syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness, and occasionally mitral valve dysplasia.

Disease data
Classification

Disease

Synonyms
15q26.3 microdeletion syndrome
Zespół mikrodelecji 15q26.3
ORPHA code
363992
OMIM code
613195
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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