HUMERORADIAL SYNOSTOSIS WITH CRANIOFACIAL ANOMALIES

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 15
OrphanetNr:
OMIM Id: 236410
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:0000248) Brachycephaly 222 / 7739
2
 (HPO:0011220) Prominent forehead 137 / 7739
3
 (HPO:0001357) Plagiocephaly 106 / 7739
4
 (HPO:0000431) Wide nasal bridge 290 / 7739
5
 (HPO:0002007) Frontal bossing 366 / 7739
6
 (HPO:0008551) Microtia 98 / 7739
7
 (HPO:0000385) Small earlobe 9 / 7739
8
 (HPO:0009702) Carpal synostosis 26 / 7739
9
 (HPO:0003041) Humeroradial synostosis 19 / 7739
10
 (HPO:0008368) Tarsal synostosis 21 / 7739
11
 (OMIM) Phalangeal synostosis 1 / 7739
12
 (OMIM) Agenesis of distal phalanges of postaxial digits 1 / 7739
13
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
14
 (OMIM) Plagiobrachycephaly 1 / 7739
15
 (OMIM) Multiple synostosis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: