Microcephaly albinism digital anomalies syndrome

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]

X-ray of a patient with microcephaly albinisim digital anomalies syndrome.[1]

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]

microcephaly
oculocutaneous albinism
Slow development of the fingers
hypoplasia of the distal phalanx of fingers
tyrosinase‐positive oculocutaneous albinism
Recurrent bacterial infections
granulocytopenia
intermittent thrombopenia
protruding midface/dysmorphism
rough and projecting hair
mild mental retardation[3]

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.

References

"Microcephaly albinism digital anomalies syndrome | Semantic Scholar". www.semanticscholar.org. Retrieved 2020-05-30.
"Microcephaly-albinism-digital anomalies syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2020-05-30.
Kotzot, Dieter; Richter, Konrad; Gierth‐Fiebig, Kornelia (1994). "Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: A new autosomal recessive syndrome?". American Journal of Medical Genetics. 50 (3): 224–227. doi:10.1002/ajmg.1320500303. ISSN 1096-8628. PMID 8042664.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.

[:0-1] "Microcephaly albinism digital anomalies syndrome | Semantic Scholar". www.semanticscholar.org. Retrieved 2020-05-30.

[:1-2] "Microcephaly-albinism-digital anomalies syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2020-05-30.

[3] Kotzot, Dieter; Richter, Konrad; Gierth‐Fiebig, Kornelia (1994). "Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: A new autosomal recessive syndrome?". American Journal of Medical Genetics. 50 (3): 224–227. doi:10.1002/ajmg.1320500303. ISSN 1096-8628. PMID 8042664.