CRANIOMETADIAPHYSEAL DYSPLASIA

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 27
OrphanetNr:
OMIM Id: 269300
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:0000691) Microdontia 104 / 7739
2
 (HPO:0011220) Prominent forehead 137 / 7739
3
 (HPO:0000695) Natal tooth 42 / 7739
4
 (HPO:0000670) Carious teeth 145 / 7739
5
 (HPO:0001090) Large eyes 20 / 7739
6
 (HPO:0000218) High palate 356 / 7739
7
 (HPO:0000260) Wide anterior fontanel 55 / 7739
8
 (HPO:0000272) Malar flattening 277 / 7739
9
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
10
 (HPO:0000678) Dental crowding 65 / 7739
11
 (HPO:0000256) Macrocephaly 298 / 7739
12
 (HPO:0000303) Mandibular prognathia 179 / 7739
13
 (HPO:0000369) Low-set ears 372 / 7739
14
 (HPO:0002967) Cubitus valgus 49 / 7739
15
 (HPO:0002673) Coxa valga 57 / 7739
16
 (HPO:0006487) Bowing of the long bones 95 / 7739
17
 (HPO:0003015) Flared metaphysis 44 / 7739
18
 (HPO:0002857) Genu valgum 144 / 7739
19
 (HPO:0000885) Broad ribs 21 / 7739
20
 (HPO:0002650) Scoliosis 705 / 7739
21
 (HPO:0005622) Broad long bones 8 / 7739
22
 (HPO:0002970) Genu varum 60 / 7739
23
 (HPO:0004322) Short stature 1232 / 7739
24
 (HPO:0003155) Elevated alkaline phosphatase 52 / 7739
25
 (OMIM) Widened long bones with translucent metaphyseal flaring 1 / 7739
26
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
27
 (HPO:0001355) Megalencephaly 39 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: