MCID: HMR043
MIFTS: 9

Humeroradial Synostosis with Craniofacial Anomalies

Aliases & Classifications for Humeroradial Synostosis with Craniofacial Anomalies

MalaCards integrated aliases for Humeroradial Synostosis with Craniofacial Anomalies:

Name: Humeroradial Synostosis with Craniofacial Anomalies 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
humeroradial synostosis with craniofacial anomalies:
Inheritance autosomal recessive inheritance


Summaries for Humeroradial Synostosis with Craniofacial Anomalies

MalaCards based summary : Humeroradial Synostosis with Craniofacial Anomalies Related phenotypes are frontal bossing and wide nasal bridge

More information from OMIM: 236410

Related Diseases for Humeroradial Synostosis with Craniofacial Anomalies

Symptoms & Phenotypes for Humeroradial Synostosis with Craniofacial Anomalies

Human phenotypes related to Humeroradial Synostosis with Craniofacial Anomalies:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 frontal bossing 31 HP:0002007
2 wide nasal bridge 31 HP:0000431
3 microtia 31 HP:0008551
4 brachycephaly 31 HP:0000248
5 prominent forehead 31 HP:0011220
6 small earlobe 31 HP:0000385
7 plagiocephaly 31 HP:0001357
8 tarsal synostosis 31 HP:0008368
9 humeroradial synostosis 31 HP:0003041
10 carpal synostosis 31 HP:0009702

Symptoms via clinical synopsis from OMIM:

56
H E E N T:
prominent forehead
small ears
broad nasal root
plagiobrachycephaly
hypoplastic earlobes

Skel:
tarsal synostosis
humeroradial synostosis
carpal synostosis
multiple synostosis
phalangeal synostosis
more

Clinical features from OMIM:

236410

Drugs & Therapeutics for Humeroradial Synostosis with Craniofacial Anomalies

Search Clinical Trials , NIH Clinical Center for Humeroradial Synostosis with Craniofacial Anomalies

Genetic Tests for Humeroradial Synostosis with Craniofacial Anomalies

Anatomical Context for Humeroradial Synostosis with Craniofacial Anomalies

Publications for Humeroradial Synostosis with Craniofacial Anomalies

Articles related to Humeroradial Synostosis with Craniofacial Anomalies:

# Title Authors PMID Year
1
Craniofacial anomalies, humero-radial synostosis, rhizomelic limb shortness: previously unrecognized autosomal recessive syndrome. 56
17304553 2007

Variations for Humeroradial Synostosis with Craniofacial Anomalies

Expression for Humeroradial Synostosis with Craniofacial Anomalies

Search GEO for disease gene expression data for Humeroradial Synostosis with Craniofacial Anomalies.

Pathways for Humeroradial Synostosis with Craniofacial Anomalies

GO Terms for Humeroradial Synostosis with Craniofacial Anomalies

Sources for Humeroradial Synostosis with Craniofacial Anomalies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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