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

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]

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 diseasee also is associated with the inactivation of the duplicated X chromosomes.

gollark: What do you mean "piggybacked"?

gollark: Where I live there's just very affordable mobile networking for that.

gollark: How unexpected.

gollark: I mean, that statement is probably not made in a sincere "can you explain this to me, I do not understand" way, but as "haha look at [OTHER SIDE] believing silly things about walls".

gollark: Exactly! Near-meaningless gotchas!

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.

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[: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.