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General Information (adopted from Orphanet):

Synonyms, Signs:	ALDS ADFN
Number of Symptoms	14
OrphanetNr:	998
OMIM Id:	300700
ICD-10:	H90.5
UMLs:	C1845068
MeSH:	C537042
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	1 family [Orphanet]
Inheritance:	X-linked recessive X-linked [Orphanet]
Age of onset:	Neonatal [Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases:

Genetic hypopigmentation of the skin
-Rare genetic disease
Hypopigmentation of the skin
-Rare skin disease
Syndromic genetic deafness
-Rare developmental defect during embryogenesis
-Rare genetic disease
-Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0000478)	Abnormality of the eye		126 / 7739
2	(HPO:0001100)	Heterochromia iridis	Occasional [Orphanet]	31 / 7739
3	(HPO:0000407)	Sensorineural hearing impairment	Very frequent [Orphanet]	524 / 7739
4	(HPO:0008527)	Congenital sensorineural hearing impairment		165 / 7739
5	(HPO:0002167)	Neurological speech impairment	Very frequent [Orphanet]	308 / 7739
6	(HPO:0007443)	Partial albinism		8 / 7739
7	(HPO:0001022)	Albinism	Frequent [Orphanet]	43 / 7739
8	(HPO:0007400)	Irregular hyperpigmentation	Very frequent [Orphanet]	72 / 7739
9	(HPO:0001053)	Hypopigmented skin patches	Very frequent [Orphanet]	80 / 7739
10	(HPO:0007509)	Patchy hypo- and hyperpigmentation		2 / 7739
11	(HPO:0007544)	Piebaldism		3 / 7739
12	(OMIM)	No ocular albinism		1 / 7739
13	(OMIM)	Piebald pigmentary variegation		1 / 7739
14	(HPO:0001417)	X-linked inheritance		173 / 7739

Additional Information:

Clinical Description OMIM

Margolis (1962) described a 'new' X-linked syndrome--deaf-mutism (profound deafness) and total albinism. Also from Israel, Ziprkowski et al. (1962) described an X-linked syndrome consisting of congenital deafness and partial albinism (without ocular albinism). They were reporting on the ... Margolis (1962) described a 'new' X-linked syndrome--deaf-mutism (profound deafness) and total albinism. Also from Israel, Ziprkowski et al. (1962) described an X-linked syndrome consisting of congenital deafness and partial albinism (without ocular albinism). They were reporting on the same family. The albinism is shown by the photographs to be 'partial,' as described by Ziprkowski and colleagues. Indeed, the pigmentary disorder might be called 'piebald.' Woolf (1965) reported albinism and deafness in 2 Hopi American Indian brothers. Woolf et al. (1965) gave a further description of these 2 brothers with congenital deafness and a remarkably similar pattern of pigmentary variegation of the piebald type. Another brother and both parents were normal and no other cases are known in Southwest Indians. The deafness was subtotal nerve type. Dolowitz (1966) stated that the 'Hopi children showed no marked decrease in vestibular function as judged by calorics with the Hallpike-Cawthorn test.' Gorlin (1988) was of the opinion that the disorder reported by Woolf (1965) 'has nothing whatsoever to do with the X-linked disorder that Ziprkowski and colleagues documented in 1962.' Hearing impairment in heterozygotes with ADFN was demonstrated by Fried et al. (1969). Studying the original family with ADFN (Margolis, 1962; Ziprkowski et al., 1962), Litvak et al. (1987) found a specific pattern of hearing impairment in carrier females. Zlotogora (1995) pointed out that although this syndrome is clinically very unusual and relatively easy to diagnose, there may have been only one other report of the condition, and that in an isolated patient (Campbell et al., 1962). This raised the possibility that this syndrome represents only 1 clinical aspect of another allelic X-linked disorder. Zlotogora (1995) proposed Waardenburg syndrome type II (see 193510) as its possible allelic syndrome. He was impressed with the similarity between affected members in the original family (Margolis, 1962; Ziprkowski et al., 1962) and the patient with homozygous WS1 reported by Zlotogora et al. (1995). He suggested that the albinism-deafness syndrome is an X-linked dominant form of Waardenburg syndrome 2, defining WS2 on phenotypic grounds characterized particularly by the absence of dystopia canthorum.

Albinism-deafness syndrome

General Information (adopted from Orphanet):

Prevalence, inheritance and age of onset:

Disease classification (adopted from Orphanet):

Symptom Information: Sort by abundance

Associated genes:

ClinVar (via SNiPA)

Additional Information:

Symptoms & Signs

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