Microcephaly deafness syndrome explained

Microcephaly deafness syndrome
Synonyms:	Microcephaly-deafness syndrome, Microcephaly-deafness-intellectual disability syndrome.
Symptoms:	intellectual disabilities and cranio-facial abnormalities
Onset:	Conception
Duration:	Life-long
Prognosis:	Good
Frequency:	Very rare, only 2 cases have ever been reported.

Microcephaly deafness syndrome is an extremely rare genetic disorder which consists of microcephaly, congenital hearing loss, mild intellectual disability, speech delay, low height, and facial dysmorphisms (such as low-set cup-shaped ears, protruding lower lips, micrognathia, epicanthal folds, drooping lower lip, and a rather big distance between both eyebrows).^{[1] [2] [3] [4] [5]} Only 2 cases of this disorder have been recorded in medical literature; a mother and her son. The researchers who discovered this disorder (H. Kawashima and N. Tsuji in 1987) later suggested that this disorder was inherited in an autosomal dominant manner, although the genetic cause of it has never been found.^{[6] [7]} The disease is estimated to affect less than 1 out of a million people worldwide.^[8]

Notes and References

1. Web site: Microcephaly Deafness Syndrome . 5 May 2022 . MediFind.
2. Web site: Microcephaly-deafness-intellectual disability syndrome . 5 May 2022 . North Carolina State University.
3. Web site: Microcephaly deafness syndrome . 5 May 2022 . . National Center for Advancing Translational Sciences.
4. Web site: Cerebral creatine deficiency syndrome 1 . 5 May 2022 . Eurofins Biomnis.
5. Web site: 16 June 2022 . Microcephaly deafness syndrome . 5 May 2022 . National Organization for Rare Disorders.
6. Web site: Microcephaly-Deafness Syndrome . 5 May 2022 . OMIM.
7. Web site: Microcephaly-deafness-intellectual disability syndrome . 5 May 2022 . Orphanet.
8. Web site: Microcephaly-Deafness Syndrome . 5 May 2022 . MalaCards.