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Microcephaly-albinism-digital anomalies syndrome
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:2513Classification level: Disorder
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.
- Summary information
- Greek (2010, pdf)