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Microcephaly-albinism-digital anomalies syndrome

Synonym(s) Castro Gago-Pombo-Novo syndrome
Prevalence <1 / 1 000 000
Inheritance Unknown
Age of onset Infancy
  • Q87.8
  • C1859910
  • C537322
MedDRA -


Disease 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.


It has been described in two sibs.

Clinical description

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

Genetic counseling

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

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