Arthrogryposis-like hand anomaly - sensorineural deafness

General Information (adopted from Orphanet):

Synonyms, Signs: ARTHROGRYPOSIS AND SENSORINEURAL DEAFNESS
DA6
Distal arthrogryposis type 6
Number of Symptoms 11
OrphanetNr: 1144
OMIM Id: 108200
ICD-10: Q68.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 1 family [Orphanet]
Inheritance: Unknown
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Distal arthrogryposis
 -Rare developmental defect during embryogenesis
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
2
 (HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
3
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
4
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
5
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
6
 (HPO:0011302) Long palm Very frequent [Orphanet] 70 / 7739
7
 (HPO:0005612) Arthrogryposis-like hand anomaly 1 / 7739
8
 (HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
9
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
10
 (HPO:0004326) Cachexia Frequent [Orphanet] 71 / 7739
11
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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). ...
Clinical Description OMIM Stewart and Bergstrom (1971) described a 'new' syndrome of arthrogryposis-like hand anomaly and sensorineural deafness. Both features of the syndrome varied widely in severity. Two members of the most recent generation had only the hand anomaly. Male-to-male transmission ...