MCID: CRN301
MIFTS: 10

Craniosynostosis with Ocular Abnormalities and Hallucal Defects

Aliases & Classifications for Craniosynostosis with Ocular Abnormalities and Hallucal Defects

MalaCards integrated aliases for Craniosynostosis with Ocular Abnormalities and Hallucal Defects:

Name: Craniosynostosis with Ocular Abnormalities and Hallucal Defects 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
intrafamilial variability


HPO:

32
craniosynostosis with ocular abnormalities and hallucal defects:
Inheritance autosomal dominant inheritance


Summaries for Craniosynostosis with Ocular Abnormalities and Hallucal Defects

MalaCards based summary : Craniosynostosis with Ocular Abnormalities and Hallucal Defects Related phenotypes are frontal bossing and ptosis

Description from OMIM: 608279

Related Diseases for Craniosynostosis with Ocular Abnormalities and Hallucal Defects

Symptoms & Phenotypes for Craniosynostosis with Ocular Abnormalities and Hallucal Defects

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
amblyopia
microcornea
cataracts

Head And Neck Face:
prominent forehead

Skeletal Feet:
metatarsus adductus
hypoplasia of the halluces
agenesis of the halluces

Head And Neck Nose:
beaked nose

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum

Head And Neck Head:
dolichocephaly

Skeletal Skull:
craniosynostosis

Neurologic Central Nervous System:
delayed development may occur
cognitive deficits may occur


Clinical features from OMIM:

608279

Human phenotypes related to Craniosynostosis with Ocular Abnormalities and Hallucal Defects:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 frontal bossing 32 HP:0002007
2 ptosis 32 HP:0000508
3 cataract 32 HP:0000518
4 global developmental delay 32 HP:0001263
5 pectus carinatum 32 HP:0000768
6 prominent forehead 32 HP:0011220
7 dolichocephaly 32 HP:0000268
8 metatarsus adductus 32 HP:0001840
9 amblyopia 32 HP:0000646
10 convex nasal ridge 32 HP:0000444
11 craniosynostosis 32 HP:0001363
12 absent toe 32 HP:0010760
13 microcornea 32 HP:0000482
14 absent hallux 32 HP:0012386

Drugs & Therapeutics for Craniosynostosis with Ocular Abnormalities and Hallucal Defects

Search Clinical Trials , NIH Clinical Center for Craniosynostosis with Ocular Abnormalities and Hallucal Defects

Genetic Tests for Craniosynostosis with Ocular Abnormalities and Hallucal Defects

Anatomical Context for Craniosynostosis with Ocular Abnormalities and Hallucal Defects

Publications for Craniosynostosis with Ocular Abnormalities and Hallucal Defects

Variations for Craniosynostosis with Ocular Abnormalities and Hallucal Defects

Expression for Craniosynostosis with Ocular Abnormalities and Hallucal Defects

Search GEO for disease gene expression data for Craniosynostosis with Ocular Abnormalities and Hallucal Defects.

Pathways for Craniosynostosis with Ocular Abnormalities and Hallucal Defects

GO Terms for Craniosynostosis with Ocular Abnormalities and Hallucal Defects

Sources for Craniosynostosis with Ocular Abnormalities and Hallucal Defects

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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