Arthrogryposis with oculomotor limitation and electroretinal anomalies

General Information (adopted from Orphanet):

Synonyms, Signs: DAIIB
DA5
Distal arthrogryposis type 5
Distal arthrogryposis with ophthalmoplegia
Oculomelic amyoplasia
Arthrogryposis, distal, type IIB
Distal arthrogryposis type IIB
Number of Symptoms 65
OrphanetNr: 1154
OMIM Id: 108145
ICD-10: Q74.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
25305018; 19571066 [IBIS]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Distal arthrogryposis
 -Rare developmental defect during embryogenesis

Comment:

DA5 is a dominant disorder characterized by skeletal muscle contractures, restrictive lung disease, and ophthalmoplegia (PMID:25305018). The phenotypic characteristics of GS (Gordon syndrome, or distal arthrogryposis type 3, DA3) and DA5 overlap (PMID:24726473).

Symptom Information: Sort by abundance 

1
 (HPO:0002693) Abnormality of the skull base 24726473 IBIS 2 / 7739
2
 (HPO:0001305) Dandy-Walker malformation 24726473 IBIS 79 / 7739
3
 (HPO:0000347) Micrognathia 24726473 IBIS 426 / 7739
4
 (HPO:0000765) Abnormality of the thorax 19571066 IBIS 64 / 7739
5
 (HPO:0002092) Pulmonary hypertension 19571066 IBIS 109 / 7739
6
 (HPO:0007941) Limited extraocular movements Very frequent [IBIS] 19571066 IBIS 7 / 7739
7
 (HPO:0000315) Abnormality of the orbital region Very frequent [IBIS] 19571066 IBIS 18 / 7739
8
 (HPO:0003394) Muscle cramps 19571066 IBIS 106 / 7739
9
 (HPO:0000490) Deeply set eye Very frequent [Orphanet] 131 / 7739
10
 (HPO:0000563) Keratoconus 25 / 7739
11
 (HPO:0001119) Keratoglobus 4 / 7739
12
 (HPO:0000483) Astigmatism 67 / 7739
13
 (HPO:0000512) Abnormal electroretinogram Frequent [Orphanet] 61 / 7739
14
 (HPO:0007703) Abnormality of retinal pigmentation 21 / 7739
15
 (HPO:0009921) Duane anomaly 9 / 7739
16
 (HPO:0000597) Ophthalmoparesis Very frequent [Orphanet] 71 / 7739
17
 (HPO:0000602) Ophthalmoplegia Very frequent [IBIS] 25305018 IBIS 56 / 7739
18
 (HPO:0000486) Strabismus Frequent [IBIS] 19571066 IBIS 576 / 7739
19
 (HPO:0000540) Hypermetropia rare [HPO:skoehler] 99 / 7739
20
 (HPO:0000505) Visual impairment Frequent [Orphanet] 297 / 7739
21
 (HPO:0000508) Ptosis Very frequent [IBIS] Very frequent [Orphanet] 19571066 IBIS 459 / 7739
22
 (HPO:0002091) Restrictive ventilatory defect Very frequent [IBIS] 25305018 IBIS 46 / 7739
23
 (HPO:0004322) Short stature 24726473 IBIS 1232 / 7739
24
 (HPO:0003199) Decreased muscle mass 27 / 7739
25
 (HPO:0003725) Firm muscles 3 / 7739
26
 (HPO:0001167) Abnormality of finger Frequent [Orphanet] 29 / 7739
27
 (HPO:0006109) Absent phalangeal crease 4 / 7739
28
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
29
 (HPO:0005879) Congenital finger flexion contractures 3 / 7739
30
 (HPO:0009466) Radial deviation of finger Frequent [Orphanet] 101 / 7739
31
 (HPO:0100807) Long fingers 23 / 7739
32
 (HPO:0001166) Arachnodactyly 62 / 7739
33
 (HPO:0001840) Metatarsus adductus Frequent [IBIS] 19571066 IBIS 49 / 7739
34
 (HPO:0001762) Talipes equinovarus Frequent [IBIS] Frequent [Orphanet] 19571066 IBIS 309 / 7739
35
 (HPO:0001776) Bilateral talipes equinovarus 8 / 7739
36
 (HPO:0001838) Rocker bottom foot Frequent [IBIS] 19571066 IBIS 85 / 7739
37
 (HPO:0001848) Calcaneovalgus deformity Frequent [IBIS] 19571066 IBIS 12 / 7739
38
 (HPO:0006251) Limited wrist extension 1 / 7739
39
 (HPO:0010489) Absent palmar crease Frequent [Orphanet] 5 / 7739
40
 (HPO:0006184) Decreased palmar creases 5 / 7739
41
 (HPO:0002804) Arthrogryposis multiplex congenita Very frequent [IBIS] 19571066 IBIS 93 / 7739
42
 (HPO:0005684) Distal arthrogryposis Very frequent [IBIS] 19571066 IBIS 31 / 7739
43
 (HPO:0001547) Abnormality of the rib cage 25 / 7739
44
 (HPO:0000767) Pectus excavatum Very frequent [Orphanet] 244 / 7739
45
 (HPO:0002650) Scoliosis rare [HPO:skoehler] 24726473 IBIS 705 / 7739
46
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 24726473 IBIS 322 / 7739
47
 (HPO:0004299) Hernia of the abdominal wall Frequent [Orphanet] 176 / 7739
48
 (HPO:0004673) Decreased facial expression 5 / 7739
49
 (HPO:0010751) Chin dimple Very frequent [Orphanet] 16 / 7739
50
 (HPO:0000325) Triangular face Frequent [Orphanet] 91 / 7739
51
 (HPO:0000218) High palate 356 / 7739
52
 (HPO:0000581) Blepharophimosis 197 / 7739
53
 (HPO:0000286) Epicanthus 371 / 7739
54
 (HPO:0000411) Protruding ear 140 / 7739
55
 (HPO:0012385) Camptodactyly 113 / 7739
56
 (HPO:0012795) Abnormality of the optic disc Frequent [Orphanet] 187 / 7739
57
 (HPO:0030084) Clinodactyly 90 / 7739
58
 (HPO:0400004) Long ear Frequent [Orphanet] 94 / 7739
59
 (OMIM) Bilateral club feet 2 / 7739
60
 (OMIM) Dimples over large joints 1 / 7739
61
 (OMIM) Hunched, anteverted shoulders 1 / 7739
62
 (OMIM) Limited forearm rotation 1 / 7739
63
 (OMIM) Macular retinal folds 1 / 7739
64
 (OMIM) Normal intelligence 81 / 7739
65
 (OMIM) Spine stiffness 1 / 7739

Associated genes:

PIEZO2;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Distal arthrogryposis type 5 (DA5) is distinguished from other forms of DA by including ocular abnormalities, typically ptosis, ophthalmoplegia, and/or strabismus, in addition to contractures of the skeletal muscles. Some cases have been reported to have pulmonary hypertension ...
Clinical Description OMIM Altman and Davidson (1939) reported a 9-year-old boy with what they termed 'amyoplasia congenita,' or arthrogryposis multiplex congenita, which they appear to have considered a synonymous designation. The boy had contractures of the fingers, toes, wrist, ankles, knees, ...