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]
| Microcephaly deafness syndrome | |
|---|---|
| Other names | Microcephaly-deafness syndrome, Microcephaly-deafness-intellectual disability syndrome. |
 | |
| This disorder is thought to be inherited in an autosomal dominant fashion. | |
| Specialty | Medical genetics, Pediatry, Psychology |
| Symptoms | intellectual disabilities and cranio-facial abnormalities |
| Usual onset | Conception |
| Duration | Life-long |
| Causes | Genetic mutation |
| Prognosis | Good |
| Frequency | Very rare, only 2 cases have ever been reported. |
References edit
- ^ "Microcephaly Deafness Syndrome". MediFind. Retrieved 5 May 2022.
- ^ "Microcephaly-deafness-intellectual disability syndrome". North Carolina State University. Retrieved 5 May 2022.
- ^ "Microcephaly deafness syndrome". National Institutes of Health. National Center for Advancing Translational Sciences. Retrieved 5 May 2022.
- ^ "Cerebral creatine deficiency syndrome 1". Eurofins Biomnis. Retrieved 5 May 2022.
- ^ "Microcephaly deafness syndrome". National Organization for Rare Disorders. 16 June 2022. Retrieved 5 May 2022.
- ^ "Microcephaly-Deafness Syndrome". OMIM. Retrieved 5 May 2022.
- ^ "Microcephaly-deafness-intellectual disability syndrome". Orphanet. Retrieved 5 May 2022.
- ^ "Microcephaly-Deafness Syndrome". MalaCards. Retrieved 5 May 2022.
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