Global InformationNasodigitoacoustic syndrome information
| Nasodigitoacoustic syndrome | |
|---|---|
| Specialty | Medical genetics  |
Nasodigitoacoustic syndrome, also called Keipert syndrome, is a rare congenital syndrome first described by J.A. Keipert and colleagues in 1973. The syndrome is characterized by a misshaped nose, broad thumbs and halluces (the big toes), brachydactyly, sensorineural hearing loss, facial features such as hypertelorism (unusually wide-set eyes), and developmental delay.
It is believed to be inherited in an X-linked recessive manner, which means a genetic mutation causing the disorder is located on the X chromosome, and while two copies of the mutated gene must be inherited for a female to be born with the disorder, just one copy is sufficient to cause a male to be born with the disorder. Nasodigitoacoustic syndrome is likely caused by a mutated gene located on the X chromosome between positions Xq22.2–q28.
The incidence of the syndrome has not been determined, but it is considered to affect less than 200,000 people in the United States, and no greater than 1 per 2,000 in Europe. It is similar to Keutel, Muenke, Rubinstein and Teunissen–Cremers syndrome.[1][2][3][4][5]
- ^ Online Mendelian Inheritance in Man (OMIM): Nasodigitoacoustic syndrome - 301026
- ^ Keipert, JA; Fitzgerald, MG; Danks, DM (Feb 1973). "A new syndrome of broad terminal phalanges and facial abnormalities". Australian Paediatric Journal. 9 (1): 10–13. doi:10.1111/j.1440-1754.1973.tb02215.x. PMID 4708024. S2CID 30695579.
- ^ Amor, D. J.; Dahl, H-H.; Bahlo, M.; Bankier, A. (Oct 2007). "Keipert syndrome (Nasodigitoacoustic syndrome) is X-linked and maps to Xq22.2–Xq28". American Journal of Medical Genetics Part A. 143A (19): 2236–2241. doi:10.1002/ajmg.a.31917. PMID 17726694. S2CID 34320632.
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