COLE-CARPENTER SYNDROME 2

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 21
OrphanetNr:
OMIM Id: 616294
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0004443) Lambdoidal craniosynostosis 15 / 7739
2
 (HPO:0000256) Macrocephaly 298 / 7739
3
 (HPO:0000325) Triangular face 91 / 7739
4
 (HPO:0000218) High palate 356 / 7739
5
 (HPO:0000308) Microretrognathia 78 / 7739
6
 (HPO:0004440) Coronal craniosynostosis 38 / 7739
7
 (HPO:0000520) Proptosis 192 / 7739
8
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
9
 (HPO:0011800) Midface retrusion 221 / 7739
10
 (HPO:0000316) Hypertelorism 644 / 7739
11
 (HPO:0002007) Frontal bossing 366 / 7739
12
 (HPO:0000592) Blue sclerae 85 / 7739
13
 (HPO:0000767) Pectus excavatum 244 / 7739
14
 (HPO:0000883) Thin ribs 31 / 7739
15
 (HPO:0000926) Platyspondyly 150 / 7739
16
 (HPO:0000938) Osteopenia 138 / 7739
17
 (HPO:0001562) Oligohydramnios 75 / 7739
18
 (HPO:0008897) Postnatal growth retardation 113 / 7739
19
 (HPO:0004322) Short stature 1232 / 7739
20
 (HPO:0001620) High pitched voice 32 / 7739
21
 (HPO:0000238) Hydrocephalus 278 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: