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.
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.