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.

Microcephaly

Head circumference below 2 standard deviations below the mean for age and gender.


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PMID (PMCID)