Craniosynostosis - dysmorphism - brachydactyly

General Information (adopted from Orphanet):

Synonyms, Signs: Glass-Chapman-Hockley syndrome
Number of Symptoms 9
OrphanetNr: 1535
OMIM Id:
ICD-10: Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 5 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: 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:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
2
 (HPO:0010650) Hypoplasia of the premaxilla Very frequent [Orphanet] 39 / 7739
3
 (HPO:0001363) Craniosynostosis Very frequent [Orphanet] 132 / 7739
4
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
5
 (HPO:0000248) Brachycephaly Very frequent [Orphanet] 222 / 7739
6
 (HPO:0004209) Clinodactyly of the 5th finger Very frequent [Orphanet] 288 / 7739
7
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
8
 (HPO:0100759) Clubbing of fingers Very frequent [Orphanet] 40 / 7739
9
 (HPO:0001182) Tapered finger Very frequent [Orphanet] 93 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: