Osteosclerosis - developmental delay - craniosynostosis

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 16
OrphanetNr: 178377
OMIM Id:
ICD-10: Q75.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[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:0000248) Brachycephaly Very frequent [Orphanet] 222 / 7739
2
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
3
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
4
 (HPO:0001363) Craniosynostosis Frequent [Orphanet] 132 / 7739
5
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
6
 (HPO:0000337) Broad forehead Very frequent [Orphanet] 116 / 7739
7
 (HPO:0000348) High forehead Very frequent [Orphanet] 157 / 7739
8
 (HPO:0010628) Facial palsy Occasional [Orphanet] 146 / 7739
9
 (HPO:0004437) Cranial hyperostosis Very frequent [Orphanet] 55 / 7739
10
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
11
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
12
 (HPO:0002516) Increased intracranial pressure Occasional [Orphanet] 47 / 7739
13
 (HPO:0002315) Headache Occasional [Orphanet] 175 / 7739
14
 (HPO:0011001) Increased bone mineral density Very frequent [Orphanet] 78 / 7739
15
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
16
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: