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Microcephaly - albinism - digital anomalies

Orpha number ORPHA2513
Synonym(s) Castro Gago-Pombo-Novo syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • Q87.8
ICD-O -
OMIM
UMLS
  • C1859910
MeSH
  • C537322
MedDRA -
SNOMED CT -

Summary

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.

It has been described in two sibs.

Both brother and sister had psychomotor retardation and died in the course of a respiratory infection.

The reported cases suggest that the condition is hereditary, and is transmitted as an autosomal recessive trait.


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