MCID: CRN292
MIFTS: 8

Craniosynostosis with Anomalies of the Cranial Base and Digits

Aliases & Classifications for Craniosynostosis with Anomalies of the Cranial Base and Digits

MalaCards integrated aliases for Craniosynostosis with Anomalies of the Cranial Base and Digits:

Name: Craniosynostosis with Anomalies of the Cranial Base and Digits 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
craniosynostosis with anomalies of the cranial base and digits:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 58 218530
MedGen 43 C1857493
SNOMED-CT via HPO 70 258211005 57219006

Summaries for Craniosynostosis with Anomalies of the Cranial Base and Digits

MalaCards based summary : Craniosynostosis with Anomalies of the Cranial Base and Digits Affiliated tissues include bone, and related phenotypes are craniosynostosis and proximal placement of thumb

Description from OMIM: 218530

Related Diseases for Craniosynostosis with Anomalies of the Cranial Base and Digits

Symptoms & Phenotypes for Craniosynostosis with Anomalies of the Cranial Base and Digits

Human phenotypes related to Craniosynostosis with Anomalies of the Cranial Base and Digits:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 craniosynostosis 33 HP:0001363
2 proximal placement of thumb 33 HP:0009623
3 preaxial foot polydactyly 33 HP:0001841
4 absent thumb 33 HP:0009777
5 absent middle phalanx of 5th finger 33 HP:0009162
6 absent middle phalanx of 2nd finger 33 HP:0009576

Symptoms via clinical synopsis from OMIM:

58
Limbs:
absent thumbs
absent middle phalanges of fingers 2 and 5
proximally placed halluces

H E E N T:
premature craniosynostosis
synchondrosis of basal skull bones

Clinical features from OMIM:

218530

Drugs & Therapeutics for Craniosynostosis with Anomalies of the Cranial Base and Digits

Search Clinical Trials , NIH Clinical Center for Craniosynostosis with Anomalies of the Cranial Base and Digits

Genetic Tests for Craniosynostosis with Anomalies of the Cranial Base and Digits

Anatomical Context for Craniosynostosis with Anomalies of the Cranial Base and Digits

MalaCards organs/tissues related to Craniosynostosis with Anomalies of the Cranial Base and Digits:

42
Bone

Publications for Craniosynostosis with Anomalies of the Cranial Base and Digits

Variations for Craniosynostosis with Anomalies of the Cranial Base and Digits

Expression for Craniosynostosis with Anomalies of the Cranial Base and Digits

Search GEO for disease gene expression data for Craniosynostosis with Anomalies of the Cranial Base and Digits.

Pathways for Craniosynostosis with Anomalies of the Cranial Base and Digits

GO Terms for Craniosynostosis with Anomalies of the Cranial Base and Digits

Sources for Craniosynostosis with Anomalies of the Cranial Base and Digits

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....