CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs: CMDR
Number of Symptoms 30
OrphanetNr:
OMIM Id: 218400
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:0001739) Abnormality of the nasopharynx 16 / 7739
2
(HPO:0000303) Mandibular prognathia 179 / 7739
3
(HPO:0001742) Nasal obstruction 5 / 7739
4
(HPO:0005465) Facial hyperostosis 4 / 7739
5
(HPO:0000316) Hypertelorism 644 / 7739
6
(HPO:0000256) Macrocephaly 298 / 7739
7
(HPO:0000187) Broad alveolar ridges 14 / 7739
8
(HPO:0000696) Delayed eruption of permanent teeth 12 / 7739
9
(HPO:0004407) Bony paranasal bossing 3 / 7739
10
(HPO:0000431) Wide nasal bridge 290 / 7739
11
(HPO:0000280) Coarse facial features 189 / 7739
12
(HPO:0000506) Telecanthus 156 / 7739
13
(HPO:0010628) Facial palsy 146 / 7739
14
(HPO:0004437) Cranial hyperostosis 55 / 7739
15
(HPO:0000648) Optic atrophy 238 / 7739
16
(HPO:0000410) Mixed hearing impairment 22 / 7739
17
(HPO:0006384) Club-shaped distal femur 3 / 7739
18
(HPO:0009772) Patchy sclerosis of finger phalanx 1 / 7739
19
(HPO:0003015) Flared metaphysis 44 / 7739
20
(HPO:0000765) Abnormality of the thorax 64 / 7739
21
(HPO:0100255) Metaphyseal dysplasia 26 / 7739
22
(OMIM) Metacarpal sclerosis 1 / 7739
23
(OMIM) Dense diaphyses 1 / 7739
24
(OMIM) Mild anterior rib widening 1 / 7739
25
(OMIM) Obliteration of paranasal sinuses and mastoid 1 / 7739
26
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
27
(OMIM) Humeri, radii, ulnae bowing 1 / 7739
28
(OMIM) Nasal obstruction leading to mouth breathing 2 / 7739
29
(OMIM) Gene valgum 1 / 7739
30
(OMIM) Normal intelligence 81 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Craniometaphyseal dysplasia is an osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve ...
Clinical Description OMIM Case 4 of Jackson et al. (1954) was blind from optic atrophy at 15 months.

Reardon et al. (1991) reported a brother and sister with identical facies consisting of prominent supraorbital ridges and hypertelorism, with prominent ...

Molecular genetics OMIM By exome sequencing in the proband from a consanguineous Portuguese family with craniometaphyseal dysplasia, Hu et al. (2013) identified homozygosity for a missense mutation in the GJA1 gene (R239Q; 121014.0021) that segregated with disease in the family and ...