Neurogenic arthrogryposis multiplex congenita

General Information (adopted from Orphanet):

Synonyms, Signs: AMC, NEUROGENIC TYPE
AMCN
Number of Symptoms 30
OrphanetNr: 1143
OMIM Id: 208100
ICD-10: Q74.3
UMLs: C1859721
MeSH: C536614
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Arthrogryposis multiplex congenita
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
(HPO:0005988) Congenital muscular torticollis Occasional [Orphanet] 11 / 7739
2
(HPO:0000248) Brachycephaly Very frequent [Orphanet] 222 / 7739
3
(HPO:0011331) Hemifacial atrophy Occasional [Orphanet] 79 / 7739
4
(HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
5
(HPO:0003196) Short nose Occasional [Orphanet] 264 / 7739
6
(HPO:0000311) Round face Occasional [Orphanet] 104 / 7739
7
(HPO:0004374) Hemiplegia/hemiparesis Occasional [Orphanet] 158 / 7739
8
(HPO:0009800) Maternal diabetes Very frequent [Orphanet] 14 / 7739
9
(HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
10
(HPO:0002818) Abnormality of the radius Frequent [Orphanet] 96 / 7739
11
(HPO:0002803) Congenital contracture 45 / 7739
12
(HPO:0100490) Camptodactyly of finger Very frequent [Orphanet] 212 / 7739
13
(HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
14
(HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
15
(HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
16
(HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
17
(HPO:0001562) Oligohydramnios Very frequent [Orphanet] 75 / 7739
18
(HPO:0002592) Gastric ulcer Very frequent [Orphanet] 39 / 7739
19
(HPO:0002242) Abnormality of the intestine Very frequent [Orphanet] 42 / 7739
20
(HPO:0100016) Abnormality of mesentery morphology Very frequent [Orphanet] 7 / 7739
21
(HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
22
(HPO:0200040) Epidermoid cyst Frequent [Orphanet] 35 / 7739
23
(HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
24
(HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 281 / 7739
25
(HPO:0003198) Myopathy 151 / 7739
26
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
27
(HPO:0040064) Abnormality of limbs Very frequent [Orphanet] 16 / 7739
28
(HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
29
(OMIM) Absent muscle spindles 1 / 7739
30
(OMIM) Spinal motor neuron depletion 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Weissman et al. (1963) described an arthrogryposis-like picture consisting of flexion contractures at the elbows or knees and no dislocation of the hips. Lebenthal et al. (1970) reported further observations of the kindred studied by Weissman et al. ...