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Arthrogryposis-like hand anomaly-sensorineural deafness syndrome(DA6)

MedGen UID:: 350677
•Concept ID:: C1862471
•: Disease or Syndrome

Synonyms:	ARTHROGRYPOSIS AND SENSORINEURAL DEAFNESS; Arthrogryposis, distal, type 6; Arthrogryposis-like hand anomaly and sensorineural deafness; DA6; Familial hand abnormality and sensori-neural deafness
SNOMED CT:	Distal arthrogryposis type 6 (720515009); Arthrogryposis-like hand anomaly and sensorineural deafness syndrome (720515009)
Modes of inheritance:	Unknown inheritance MedGen UID: 989040 •Concept ID: CN307042 • Finding Source: Orphanet Hereditary clinical entity whose mode of inheritance is unknown. See: This record Unknown inheritance (Orphanet)

Monarch Initiative:	MONDO:0007159
OMIM®:	108200
Orphanet:	ORPHA1144

Definition

Distal arthrogryposis type 6 (DA6) is distinguished by the additional feature of sensorineural deafness (summary by Bamshad et al., 2009). For a phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (108120). [from OMIM]

Clinical features

From HPO

Sensorineural hearing impairment

MedGen UID:: 9164
•Concept ID:: C0018784
•: Disease or Syndrome

A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.

See: Feature record | Search on this feature

Arthrogryposis multiplex congenita

MedGen UID:: 2455
•Concept ID:: C0003886
•: Finding

Multiple congenital contractures in different body areas.

See: Feature record | Search on this feature

Arthrogryposis-like hand anomaly

MedGen UID:: 870719
•Concept ID:: C4025173
•: Congenital Abnormality

See: Feature record | Search on this feature

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Abnormality of the ear
- Sensorineural hearing impairment
Abnormality of the musculoskeletal system
- Arthrogryposis multiplex congenita
- Arthrogryposis-like hand anomaly

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Abnormal skeletal morphology
- Abnormal tendon morphology
  - Joint contracture
    - Flexion contracture
      - Congenital contracture
        Distal arthrogryposis
        Arthrogryposis-like hand anomaly-sensorineural deafness syndrome

Follow this link to review classifications for Arthrogryposis-like hand anomaly-sensorineural deafness syndrome in Orphanet.

Supplemental Content

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