Albinism Deafness Syndrome

Classification according to ICD-10
H90.5	Hearing loss due to sensorineural disorders, unspecified
ICD-10 online (WHO version 2019)

The albinism-deafness syndrome is a very rare genetic disease with a combination of congenital deafness and partial albinism without ocular changes.

Synonyms are Dolowitz-Aldous syndrome , Ziprkowski-Margolis syndrome.

The names refer to publications by E. Margolis and L. Ziprkowski and colleagues from 1962 and by CM Woolf , DA Dolowitz and HE Aldous from 1965.

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is X-linked - recessive .

root cause

The disease is based on mutations in the chromosome region Xq26.3-q27.

Clinical manifestations

Clinical criteria are:

Congenital sensory-neural hearing loss
Piebaldism , but without ocular albinism.

Described on the basis of the x-linked inheritance, male patients show pronounced hearing loss and pigment anomalies. In female carriers of the genetic defect, there are no pigment changes, only variable hearing loss.

Web links

Albinism Deafness Syndrome. In: Online Mendelian Inheritance in Man . (English)

Individual evidence

↑ ^a ^b ^c ^d Albinism Deafness Syndrome. In: Orphanet (Rare Disease Database).
^ E. Margolis: A new hereditary syndrome-sex linked deafmutism associated with total albinism. In: Acta genetica et statistica medica. Vol. 12, 1962, ISSN 0567-7440 , pp. 12-19, PMID 14469778 .
↑ L. Ziprkowski, A. Krakowski, A. Adam, H. Costeff, J. Sade: Partial albinism and deaf-mutism due to a recessive sex-linked gene. In: Archives of Dermatology . Volume 86, October 1962, ISSN 0003-987X , pp. 530-539, PMID 14003785 .
↑ CM Woolf, DA Dolowitz, HE Aldous: Congenital deafness associated with piebaldness. In: Archives of Otolaryngology (Chicago, Ill.: 1960). Vol. 82, September 1965, ISSN 0003-9977 , pp. 244-250, PMID 14327022 .

[Orpha-1] Albinism Deafness Syndrome. In: Orphanet (Rare Disease Database).

[2] E. Margolis: A new hereditary syndrome-sex linked deafmutism associated with total albinism. In: Acta genetica et statistica medica. Vol. 12, 1962, ISSN 0567-7440 , pp. 12-19, PMID 14469778 .

[3] L. Ziprkowski, A. Krakowski, A. Adam, H. Costeff, J. Sade: Partial albinism and deaf-mutism due to a recessive sex-linked gene. In: Archives of Dermatology . Volume 86, October 1962, ISSN 0003-987X , pp. 530-539, PMID 14003785 .

[4] CM Woolf, DA Dolowitz, HE Aldous: Congenital deafness associated with piebaldness. In: Archives of Otolaryngology (Chicago, Ill.: 1960). Vol. 82, September 1965, ISSN 0003-9977 , pp. 244-250, PMID 14327022 .