Acalvaria

General Information (adopted from Orphanet):

Synonyms, Signs: Acrania
Number of Symptoms 15
OrphanetNr: 945
OMIM Id:
ICD-10: Q75.8
UMLs: C0702169
C2930936
MeSH: C535570
D009436
MedDRA:
Snomed: 203923004
36745003

Prevalence, inheritance and age of onset:

Prevalence: < 1 of 100 000 [Orphanet]
Inheritance: Not applicable
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Cranial malformation
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0001362) Calvarial skull defect Frequent [Orphanet] 22 / 7739
2
 (HPO:0000316) Hypertelorism Occasional [Orphanet] 644 / 7739
3
 (HPO:0000929) Abnormality of the skull Very frequent [Orphanet] 53 / 7739
4
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
5
 (HPO:0001762) Talipes equinovarus Occasional [Orphanet] 309 / 7739
6
 (HPO:0002414) Spina bifida Occasional [Orphanet] 47 / 7739
7
 (HPO:0001162) Postaxial hand polydactyly Frequent [Orphanet] 119 / 7739
8
 (HPO:0001539) Omphalocele Occasional [Orphanet] 102 / 7739
9
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
10
 (HPO:0002101) Abnormal lung lobation Occasional [Orphanet] 33 / 7739
11
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
12
 (HPO:0000238) Hydrocephalus Occasional [Orphanet] 278 / 7739
13
 (HPO:0012443) Abnormality of brain morphology Occasional [Orphanet] 45 / 7739
14
 (HPO:0002334) Abnormality of the cerebellar vermis Very frequent [Orphanet] 137 / 7739
15
 (HPO:0002536) Abnormal cortical gyration Frequent [Orphanet] 72 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: