HYPEROSTOSIS CRANIALIS INTERNA

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 7
OrphanetNr:
OMIM Id: 144755
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:0004490) Calvarial hyperostosis 11 / 7739
2
(HPO:0005890) Hyperostosis cranialis interna 2 / 7739
3
(HPO:0010628) Facial palsy 146 / 7739
4
(HPO:0005746) Osteosclerosis of the base of the skull 1 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
(OMIM) Recurrent facial palsy 1 / 7739
7
(OMIM) Variable impaired smell, taste, vision and cochleovestibular function 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Hyperostosis cranialis interna is a bone disorder characterized by endosteal hyperostosis and osteosclerosis of the calvaria and the skull base. The progressive bone overgrowth causes entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII (Waterval ...
Clinical Description OMIM Manni et al. (1990) described a bone disorder, which they called hyperostosis cranialis interna, in a Dutch kindred. The main radiologic features were intracranial hyperostosis and osteosclerosis of the calvaria and the base of the skull; the mandible ...