Terminal transverse defects of arm

General Information (adopted from Orphanet):

Synonyms, Signs: STREETER ANOMALY ADAM COMPLEX, INCLUDED
AMNIOTIC BAND SEQUENCE
TERMINAL TRANSVERSE DEFECTS OF ARM, INCLUDED
AMPUTATION, CONGENITAL, INCLUDED
ABS
Congenital limb amputation
Number of Symptoms 19
OrphanetNr: 93937
OMIM Id: 217100
ICD-10: Q79.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Sporadic
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Amniotic bands
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0002836) Bladder exstrophy 8 / 7739
2
 (HPO:0000625) Cleft eyelid 31 / 7739
3
 (HPO:0002006) Facial cleft 25 / 7739
4
 (HPO:0000175) Cleft palate 349 / 7739
5
 (HPO:0002084) Encephalocele 70 / 7739
6
 (HPO:0000204) Cleft upper lip 193 / 7739
7
 (HPO:0002650) Scoliosis 705 / 7739
8
 (HPO:0001762) Talipes equinovarus 309 / 7739
9
 (HPO:0010442) Polydactyly 69 / 7739
10
 (HPO:0001543) Gastroschisis 11 / 7739
11
 (HPO:0001539) Omphalocele 102 / 7739
12
 (HPO:0001683) Ectopia cordis 3 / 7739
13
 (HPO:0002101) Abnormal lung lobation 33 / 7739
14
 (OMIM) Syndactyly, distal 2 / 7739
15
 (OMIM) Thoracoschisis 2 / 7739
16
 (OMIM) Abdominoschisis 2 / 7739
17
 (OMIM) Orbital clefts 2 / 7739
18
 (OMIM) Ring-like finger constrictions 2 / 7739
19
 (OMIM) Congenital amputation 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: