Thalidomide embryopathy

General Information (adopted from Orphanet):

Synonyms, Signs: Fetal thalidomide syndrome
Number of Symptoms 16
OrphanetNr: 3312
OMIM Id:
ICD-10: Q86.8
UMLs: C0432365
MeSH:
MedDRA:
Snomed: 36193003

Prevalence, inheritance and age of onset:

Prevalence: 0.77 of 100 000 [Orphanet]
Inheritance: Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndrome with limb reduction defects
 -Rare bone disease
 -Rare developmental defect during embryogenesis
Toxic or drug-related embryofetopathy
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
2
 (HPO:0008772) Aplasia/Hypoplasia of the external ear Occasional [Orphanet] 67 / 7739
3
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Frequent [Orphanet] 80 / 7739
4
 (HPO:0001177) Preaxial hand polydactyly Frequent [Orphanet] 59 / 7739
5
 (HPO:0002823) Abnormality of the femur Frequent [Orphanet] 61 / 7739
6
 (HPO:0009380) Aplasia of the fingers Frequent [Orphanet] 51 / 7739
7
 (HPO:0002991) Abnormality of the fibula Frequent [Orphanet] 49 / 7739
8
 (HPO:0002997) Abnormality of the ulna Frequent [Orphanet] 75 / 7739
9
 (HPO:0003063) Abnormality of the humerus Frequent [Orphanet] 36 / 7739
10
 (HPO:0009486) Radial deviation of the hand Frequent [Orphanet] 13 / 7739
11
 (HPO:0100867) Duodenal stenosis Occasional [Orphanet] 29 / 7739
12
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
13
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
14
 (HPO:0011420) Death Occasional [Orphanet] 184 / 7739
15
 (HPO:0040065) Abnormal morphology of bones of the upper limbs Frequent [Orphanet] 25 / 7739
16
 (HPO:0001199) Triphalangeal thumb Frequent [Orphanet] 56 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: