CRANIODIAPHYSEAL DYSPLASIA

General Information (adopted from Orphanet):

Synonyms, Signs: CDD
Number of Symptoms 8
OrphanetNr:
OMIM Id: 218300
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0005465) Facial hyperostosis 4 / 7739
2
(HPO:0004437) Cranial hyperostosis 55 / 7739
3
(HPO:0001249) Intellectual disability 1089 / 7739
4
(HPO:0003034) Diaphyseal sclerosis 10 / 7739
5
(HPO:0100252) Diaphyseal dysplasia 4 / 7739
6
(OMIM) No metaphyseal flaring in distinction to craniometaphyseal dysplasia 1 / 7739
7
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
8
(OMIM) Diaphyses generally expanded 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Cranial and facial hyperostosis results in a characteristic clinical and radiographic appearance. The diaphyses of the bones are generally expanded. Halliday (1949) and Stransky et al. (1962) reported isolated cases with similar findings. Facial and cranial thickening and ...