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Microcephaly-albinism-digital anomalies syndrome

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.

ORPHA:2513

Classification level: Disorder
  • Synonym(s):
    • Castro Gago-Pombo-Novo syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 203340
  • UMLS: C1859910
  • MeSH: C537322
  • GARD: 3604
  • MedDRA: -

Summary

Epidemiology

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.

- Last update: October 2010

  A summary on this disease is available in Deutsch (2010) Español (2010) Français (2010) Italiano (2010) Nederlands (2010) Português (2010) Greek (2010, pdf)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.