Oculotrichodysplasia

Orpha code: 2718OMIM code: 257960

Definition

A rare ectodermal dysplasia syndrome characterized by bilateral retinitis pigmentosa, trichodysplasia (generalized hypotrichosis, structural changes), dental anomalies, onychodysplasia, and dry and scaly skin. There have been no further descriptions in the literature since 1988.

Disease data
Classification

Malformation syndrome

Synonyms
Cecato de Lima-Pinheiro syndrome
Zespół Cecato de Lima i Pinheiro
ORPHA code
2718
OMIM code
257960
ICD10 code
Q82.4
ICD11 code
LD27.0Y

No additional description.

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