Microcephaly-albinism-digital anomalies syndrome

Orpha code: 2513OMIM code: 203340

Definition

Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe.

Disease data
Classification

Malformation syndrome

Synonyms
Castro Gago-Pombo-Novo syndrome
Zespół Castro Gago, Pombo i Novo
ORPHA code
2513
OMIM code
203340
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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