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Microcephaly albinism digital anomalies syndrome

Medical condition From Wikipedia, the free encyclopedia

Microcephaly albinism digital anomalies syndrome
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Microcephaly albinism digital anomalies syndrome is a very rare congenital genetic disease. The syndrome includes microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers, and agenesia of the distal end of the right big toe.[2]

Quick Facts
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Symptoms and signs

Microcephaly albinism digital anomalies syndrome's symptoms may vary from individual to individual, however there are many common symptoms, associated with this rare genetic disease. Common symptoms are:[2]

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Genetics

In males, duplication of a portion of Xq chromosome is associated with multiple congenital anomalies and developmental delay. Most females recognized as having dup(Xq) chromosomes are phenotypically apparently normal relatives of phenotypically abnormal males. The disease also is associated with the inactivation of the duplicated X chromosomes.[citation needed]

Diagnosis

References

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