Paula and Bobby
Parents of Lillie
Albinism-Deafness syndrome; ADFN
What is Albinism-Deafness syndrome; ADFN?
Albinism-Deafness syndrome; ADFN is a rare disease. It is also known as Albinism - deafness syndrome Alds.
Fourteen males from a large X-linked pedigree were described by Ziprkowski et al., (1962) and Margolis (1962) with deaf-mutism and mottled skin pigmentation, consisting of areas of hyper- and hypopigmentaion, giving a piebald appearance. Shiloh et al., (1990) mapped the gene to Xq26.3-q27.1. Zlotgora (1995) suggested that the condition is an X-linked form of Waardenburg syndrome type II. Woolf et al., (1965) described two Hopi Indian brothers with piebaldism and subtotal nerve deafness. It is not certain whether this is the same condition as that described by Ziprkowski et al., (1962).
* This information is courtesy of the L M D.
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What gene changes cause Albinism-Deafness syndrome; ADFN?
The syndrome is inherited in the following inheritance pattern/s:
X-Linked Recessive - Syndromes inherited in an X-linked recessive pattern generally only affect males. Males only have one X chromosome, and so one copy of a gene mutation on it causes the syndrome. Females, with two X chromosomes, only one of which will be mutated, are not likely to be affected.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
OMIM Number - 300700 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Albinism-Deafness syndrome; ADFN?
The typical symptoms of the syndrome are:
Albinism, Abnormality of the eye, X-linked inheritance, Piebaldism, Patchy hypo- and hyperpigmentation, Sensorineural hearing impairment, Ocular albinism, Heterochromia iridis, Hypopigmented skin patches, Hypopigmentation of hair, Irregular hyperpigmentation, Neurological speech impairment, Congenital sensorineural hearing impairment, Partial albinism
How does someone get tested for Albinism-Deafness syndrome; ADFN?
The initial testing for Albinism-Deafness syndrome; ADFN can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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