Digitotalar dysmorphism

General Information (adopted from Orphanet):

Synonyms, Signs: DA1A
DA1
Distal arthrogryposis type 1
Number of Symptoms 27
OrphanetNr: 1146
OMIM Id: 108120
126050
614335
ICD-10: Q74.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 10 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Distal arthrogryposis
 -Rare developmental defect during embryogenesis
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000028) Cryptorchidism 7.5000 % [HPO] 347 / 7739
2
 (HPO:0000160) Narrow mouth Occasional [Orphanet] 188 / 7739
3
 (HPO:0000211) Trismus 7.5000 % [HPO] 9 / 7739
4
 (HPO:0000954) Single transverse palmar crease 7.5000 % [HPO] 162 / 7739
5
 (HPO:0006380) Knee flexion contracture 30.0000 % [HPO] 56 / 7739
6
 (HPO:0001193) Ulnar deviation of the hand or of fingers of the hand 25.0000 % [HPO] 17 / 7739
7
 (HPO:0003184) Decreased hip abduction 38.0000 % [HPO] 7 / 7739
8
 (HPO:0001838) Rocker bottom foot Occasional [Orphanet] 88.0000 % [HPO] 85 / 7739
9
 (HPO:0003273) Hip contracture 38.0000 % [HPO] 30 / 7739
10
 (HPO:0009465) Ulnar deviation of finger Frequent [Orphanet] 48 / 7739
11
 (HPO:0009473) Joint contracture of the hand 25.0000 % [HPO] 84 / 7739
12
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
13
 (HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
14
 (HPO:0001848) Calcaneovalgus deformity 33.0000 % [HPO] 12 / 7739
15
 (HPO:0001188) Hand clenching 25.0000 % [HPO] 9 / 7739
16
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
17
 (HPO:0001374) Congenital hip dislocation 38.0000 % [HPO] 51 / 7739
18
 (HPO:0009466) Radial deviation of finger Very frequent [Orphanet] 101 / 7739
19
 (HPO:0002650) Scoliosis 7.5000 % [HPO] 705 / 7739
20
 (HPO:0001032) Absent distal interphalangeal creases 25.0000 % [HPO] 9 / 7739
21
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
22
 (HPO:0001172) Abnormality of the thumb Very frequent [Orphanet] 103 / 7739
23
 (HPO:0001762) Talipes equinovarus Frequent [Orphanet] 25.0000 % [HPO] 309 / 7739
24
 (HPO:0009742) Stiff shoulders 17.0000 % [HPO] 2 / 7739
25
 (HPO:0001181) Adducted thumb 25.0000 % [HPO] 31 / 7739
26
 (HPO:0002987) Elbow flexion contracture 64 / 7739
27
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: