MCID: CRN301
MIFTS: 9

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 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
intrafamilial variability


HPO:

33
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

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

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 frontal bossing 33 HP:0002007
2 ptosis 33 HP:0000508
3 cataract 33 HP:0000518
4 global developmental delay 33 HP:0001263
5 pectus carinatum 33 HP:0000768
6 prominent forehead 33 HP:0011220
7 dolichocephaly 33 HP:0000268
8 metatarsus adductus 33 HP:0001840
9 amblyopia 33 HP:0000646
10 convex nasal ridge 33 HP:0000444
11 craniosynostosis 33 HP:0001363
12 absent toe 33 HP:0010760
13 microcornea 33 HP:0000482
14 absent hallux 33 HP:0012386

Symptoms via clinical synopsis from OMIM:

58
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

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 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....