CRANIOACROFACIAL SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr:
OMIM Id: 122850
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000275) Narrow face 76 / 7739
2
 (HPO:0005679) Dupuytren contracture 3 / 7739
3
 (HPO:0005922) Abnormal hand morphology 6 / 7739
4
 (HPO:0001629) Ventricular septal defect 316 / 7739
5
 (HPO:0001642) Pulmonic stenosis 89 / 7739
6
 (OMIM) Narrow head and face 1 / 7739
7
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
8
 (OMIM) Minor hand anomalies 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: