CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT

General Information (adopted from Orphanet):

Synonyms, Signs: CDD
Number of Symptoms 29
OrphanetNr:
OMIM Id: 122860
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000256) Macrocephaly 298 / 7739
2
(HPO:0011120) Concave nasal ridge 9 / 7739
3
(HPO:0000452) Choanal stenosis 23 / 7739
4
(HPO:0001349) Facial diplegia 16 / 7739
5
(HPO:0000316) Hypertelorism 644 / 7739
6
(HPO:0000431) Wide nasal bridge 290 / 7739
7
(HPO:0001085) Papilledema 31 / 7739
8
(HPO:0000529) Progressive visual loss 54 / 7739
9
(HPO:0000648) Optic atrophy 238 / 7739
10
(HPO:0001730) Progressive hearing impairment 29 / 7739
11
(HPO:0002315) Headache 175 / 7739
12
(HPO:0002516) Increased intracranial pressure 47 / 7739
13
(HPO:0003165) Elevated circulating parathyroid hormone level 17 / 7739
14
(HPO:0011001) Increased bone mineral density 78 / 7739
15
(HPO:0000900) Thickened ribs 9 / 7739
16
(HPO:0003034) Diaphyseal sclerosis 10 / 7739
17
(HPO:0100774) Hyperostosis 17 / 7739
18
(HPO:0004322) Short stature 1232 / 7739
19
(HPO:0003155) Elevated alkaline phosphatase 52 / 7739
20
(OMIM) Sclerotic ribs 2 / 7739
21
(OMIM) Cortical sclerosis of facial bones 1 / 7739
22
(OMIM) Facial bone hyperplasia 1 / 7739
23
(OMIM) Prominent mandible 5 / 7739
24
(OMIM) Obliteration of the sinuses, middle ear cavities, internal acoustic canals, and optic nerve canals 1 / 7739
25
(OMIM) Cement lines 1 / 7739
26
(OMIM) Leonine facies 1 / 7739
27
(OMIM) Undertubulation of the long bones of the legs 1 / 7739
28
(OMIM) Difficulty breathing through the nostrils 1 / 7739
29
(OMIM) Respiratory obstruction 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Craniodiaphyseal dysplasia is a severe bone dysplasia characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones. Progressive bony encroachment upon cranial foramina leads to severe neurologic impairment in childhood (summary by Brueton and ...
Clinical Description OMIM Schaefer et al. (1986) described a mother and her male infant affected with a craniotubular dysplasia characterized by severe craniofacial hyperostosis and sclerosis with obliteration of paranasal sinuses and foramina of the skull base. A severe bilateral hearing ...
Molecular genetics OMIM In a Korean girl with autosomal dominant CDD, Kim et al. (2011) identified a de novo heterozygous mutation in the SOST gene (V21M; 605740.0005). Genetic analysis of the patient reported by Bieganski et al. (2007) identified a second ...