Eng-Strom syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 9
OrphanetNr: 1937
OMIM Id:
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000767) Pectus excavatum Frequent [Orphanet] 244 / 7739
2
 (HPO:0100490) Camptodactyly of finger Very frequent [Orphanet] 212 / 7739
3
 (HPO:0100769) Synovitis Frequent [Orphanet] 86 / 7739
4
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
5
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
6
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
7
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
8
 (HPO:0001629) Ventricular septal defect Frequent [Orphanet] 316 / 7739
9
 (HPO:0004760) Congenital septal defect Frequent [Orphanet] 69 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: