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 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
craniosynostosis with anomalies of the cranial base and digits:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 57 218530
MedGen 42 C1857493
SNOMED-CT via HPO 69 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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 craniosynostosis 32 HP:0001363
2 proximal placement of thumb 32 HP:0009623
3 preaxial foot polydactyly 32 HP:0001841
4 absent thumb 32 HP:0009777
5 absent middle phalanx of 5th finger 32 HP:0009162
6 absent middle phalanx of 2nd finger 32 HP:0009576

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:

41
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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