Distal arthrogryposis type 5D

General Information (adopted from Orphanet):

Synonyms, Signs: DA5D
Distal arthrogryposis type 5 without ophthalmoparesis
Distal arthrogryposis type 5 without ophthalmoplegia
Number of Symptoms 35
OrphanetNr: 329457
OMIM Id: 615065
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Distal arthrogryposis
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000059) Hypoplastic labia majora rare [HPO:skoehler] 22 / 7739
2
 (HPO:0002553) Highly arched eyebrow 92 / 7739
3
 (HPO:0000470) Short neck 345 / 7739
4
 (HPO:0000311) Round face 104 / 7739
5
 (HPO:0000175) Cleft palate rare [HPO:skoehler] 349 / 7739
6
 (HPO:0000221) Furrowed tongue 24 / 7739
7
 (HPO:0000347) Micrognathia 426 / 7739
8
 (HPO:0000463) Anteverted nares 305 / 7739
9
 (HPO:0000414) Bulbous nose 63 / 7739
10
 (HPO:0001762) Talipes equinovarus rare [HPO:skoehler] 309 / 7739
11
 (HPO:0002987) Elbow flexion contracture 64 / 7739
12
 (HPO:0004696) Talipes cavus equinovarus 13 / 7739
13
 (HPO:0001181) Adducted thumb 31 / 7739
14
 (HPO:0001840) Metatarsus adductus 49 / 7739
15
 (HPO:0003307) Hyperlordosis rare [HPO:skoehler] 122 / 7739
16
 (HPO:0012385) Camptodactyly 113 / 7739
17
 (HPO:0004684) Talipes valgus 28 / 7739
18
 (HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
19
 (HPO:0001761) Pes cavus 225 / 7739
20
 (HPO:0001848) Calcaneovalgus deformity rare [HPO:skoehler] 12 / 7739
21
 (HPO:0004322) Short stature 1232 / 7739
22
 (OMIM) Dislocated hips, bilateral (in some patients) 1 / 7739
23
 (OMIM) Contractures of wrists 1 / 7739
24
 (OMIM) Pterygia of axillae (in some patients) 1 / 7739
25
 (OMIM) Ptosis, unilateral or more severe on one side 1 / 7739
26
 (OMIM) Pterygia of neck (in some patients) 1 / 7739
27
 (OMIM) Pterygia of groin (in some patients) 1 / 7739
28
 (OMIM) Extension contractures of knees 1 / 7739
29
 (OMIM) Pterygia of elbows (in some patients) 1 / 7739
30
 (OMIM) Severe camptodactyly 2 / 7739
31
 (OMIM) Adducted wrists 1 / 7739
32
 (OMIM) Contractures of shoulders 1 / 7739
33
 (OMIM) Camptodactyly, mild 1 / 7739
34
 (OMIM) Neck contractures 2 / 7739
35
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) This autosomal recessive form of distal arthrogryposis, designated DA5D by McMillin et al. (2013), is characterized by severe camptodactyly of the hands, including adducted thumbs and wrists; mild camptodactyly of the toes; clubfoot and/or a calcaneovalgus deformity; extension ...
Molecular genetics OMIM By analyzing candidate genes in a critical region of 2q identified in a family with autosomal recessive distal arthrogryposis, as well as in 2 additional families with a similar recessive DA phenotype, McMillin et al. (2013) identified homozygous ...