Adducted thumbs - arthrogryposis, Christian type

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 31
OrphanetNr: 2952
OMIM Id: 201550
ICD-10: Q74.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 families [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Arthrogryposis multiplex congenita
 -Rare developmental defect during embryogenesis
Syndrome or malformation associated with head and neck malformations
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
2
 (HPO:0000600) Abnormality of the pharynx Frequent [Orphanet] 22 / 7739
3
 (HPO:0000175) Cleft palate 349 / 7739
4
 (HPO:0000220) Velopharyngeal insufficiency 10 / 7739
5
 (HPO:0000218) High palate 356 / 7739
6
 (HPO:0001363) Craniosynostosis 132 / 7739
7
 (HPO:0000194) Open mouth Occasional [Orphanet] 70 / 7739
8
 (HPO:0002058) Myopathic facies 26 / 7739
9
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
10
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
11
 (HPO:0002015) Dysphagia 301 / 7739
12
 (HPO:0001315) Reduced tendon reflexes Frequent [Orphanet] 160 / 7739
13
 (HPO:0000767) Pectus excavatum Frequent [Orphanet] 244 / 7739
14
 (HPO:0001172) Abnormality of the thumb Very frequent [Orphanet] 103 / 7739
15
 (HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
16
 (HPO:0001762) Talipes equinovarus Very frequent [Orphanet] 309 / 7739
17
 (HPO:0000998) Hypertrichosis 52 / 7739
18
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
19
 (HPO:0001601) Laryngomalacia Frequent [Orphanet] 61 / 7739
20
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
21
 (HPO:0003198) Myopathy 151 / 7739
22
 (HPO:0001290) Generalized hypotonia 51 / 7739
23
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
24
 (HPO:0006990) Myelin-dependent gliosis 1 / 7739
25
 (OMIM) Arthrogryposis of elbows, wrists, and knees 1 / 7739
26
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
27
 (OMIM) Dysmyelination with excess myelin-dependent gliosis 1 / 7739
28
 (HPO:0007266) Cerebral dysmyelination 13 / 7739
29
 (OMIM) Thumb adducted and flexed 2 / 7739
30
 (OMIM) Stiff, myopathic facies 1 / 7739
31
 (OMIM) Myelin solubilization 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Christian et al. (1971) described 3 sibships in an Amish kindred with members affected by a new syndrome, which they chose to designate the 'adducted thumbs syndrome.' All 6 parents shared a common ancestral couple. Three Amish children ...