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Albinism-hearing loss syndrome(ADFN)

MedGen UID:
375573
•Concept ID:
C1845068
•
Disease or Syndrome
Synonym: Albinism-deafness syndrome
SNOMED CT: Albinism with deafness syndrome (722285005)
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
•Concept ID:
C1845977
•
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
See: This record
X-linked recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0010403
OMIM®: 300700
Orphanet: ORPHA998

Definition

Syndrome with characteristics of congenital nerve deafness and piebaldness without ocular albinism. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1. [from SNOMEDCT_US]

Clinical features

From HPO
Congenital sensorineural hearing impairment
MedGen UID:
356101
•Concept ID:
C1865866
•
Disease or Syndrome
A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset.
See: Feature record | Search on this feature
Albinism
MedGen UID:
182
•Concept ID:
C0001916
•
Disease or Syndrome
An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina).
See: Feature record | Search on this feature
Piebaldism
MedGen UID:
36361
•Concept ID:
C0080024
•
Congenital Abnormality
Piebaldism is a rare autosomal dominant trait characterized by the congenital absence of melanocytes in affected areas of the skin and hair. A white forelock of hair, often triangular in shape, may be the only manifestation, or both the hair and the underlying forehead may be involved. The eyebrows and eyelashes may be affected. Irregularly shaped white patches may be observed on the face, trunk, and extremities, usually in a symmetrical distribution. Typically, islands of hyperpigmentation are present within and at the border of depigmented areas (summary by Thomas et al., 2004).
See: Feature record | Search on this feature
Patchy hypo- and hyperpigmentation
MedGen UID:
867215
•Concept ID:
C4021573
•
Disease or Syndrome
See: Feature record | Search on this feature
Ocular albinism
MedGen UID:
38147
•Concept ID:
C0078917
•
Congenital Abnormality
An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAlbinism-hearing loss syndrome
Follow this link to review classifications for Albinism-hearing loss syndrome in Orphanet.

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