CRANIOSYNOSTOSIS WITH OCULAR ABNORMALITIES AND HALLUCAL DEFECTS

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 17
OrphanetNr:
OMIM Id: 608279
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0011220) Prominent forehead 137 / 7739
2
(HPO:0000268) Dolichocephaly 144 / 7739
3
(HPO:0001363) Craniosynostosis 132 / 7739
4
(HPO:0000444) Convex nasal ridge 87 / 7739
5
(HPO:0002007) Frontal bossing 366 / 7739
6
(HPO:0000482) Microcornea 102 / 7739
7
(HPO:0000646) Amblyopia 42 / 7739
8
(HPO:0000508) Ptosis 459 / 7739
9
(HPO:0000518) Cataract 454 / 7739
10
(HPO:0001263) Global developmental delay 853 / 7739
11
(HPO:0000768) Pectus carinatum 136 / 7739
12
(HPO:0012386) Absent hallux 1 / 7739
13
(HPO:0001840) Metatarsus adductus 49 / 7739
14
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
15
(OMIM) Delayed development may occur 1 / 7739
16
(OMIM) Cognitive deficits may occur 1 / 7739
17
(OMIM) Hypoplasia of the halluces 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Passos-Bueno et al. (2002) reported a father and 2 sons with craniosynostosis and ocular and distal limb defects. The father had craniosynostosis of the coronal suture, whereas both sons had involvement of the sagittal suture. The father had ...
Molecular genetics OMIM Passos-Bueno et al. (2002) analyzed the candidate exons of the FGFR1 (136350), FGFR2 (176943), FGFR3 (134934), TWIST1 (601622), and MSX2 (123101) genes, mutations in which have been associated with craniosynostosis, and found no alterations.