Acrocephalosyndactyly

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 14
OrphanetNr: 946
OMIM Id:
ICD-10: Q87.0
UMLs:
MeSH:
MedDRA: 10000590
Snomed: 268262006

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndromic craniosynostosis
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000107) Renal cyst Very frequent [Orphanet] 126 / 7739
2
 (HPO:0001363) Craniosynostosis Very frequent [Orphanet] 132 / 7739
3
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
4
 (HPO:0000262) Turricephaly Very frequent [Orphanet] 38 / 7739
5
 (HPO:0005989) Redundant neck skin Very frequent [Orphanet] 40 / 7739
6
 (HPO:0001539) Omphalocele Very frequent [Orphanet] 102 / 7739
7
 (HPO:0001743) Abnormality of the spleen Frequent [Orphanet] 37 / 7739
8
 (HPO:0005264) Abnormality of the gallbladder Very frequent [Orphanet] 14 / 7739
9
 (HPO:0002240) Hepatomegaly Very frequent [Orphanet] 467 / 7739
10
 (HPO:0001513) Obesity Very frequent [Orphanet] 172 / 7739
11
 (HPO:0001052) Nevus flammeus Occasional [Orphanet] 88 / 7739
12
 (HPO:0001072) Thickened skin Very frequent [Orphanet] 87 / 7739
13
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Very frequent [Orphanet] 79 / 7739
14
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: