CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: CAASDS
Number of Symptoms 8
OrphanetNr:
OMIM Id: 614195
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:0007035) Anterior encephalocele 2 / 7739
2
(HPO:0007291) Posterior fossa cyst 10 / 7739
3
(HPO:0000316) Hypertelorism 644 / 7739
4
(HPO:0011488) Abnormality of corneal endothelium 1 / 7739
5
(HPO:0000512) Abnormal electroretinogram 61 / 7739
6
(HPO:0000356) Abnormality of the outer ear 85 / 7739
7
(HPO:0000238) Hydrocephalus 278 / 7739
8
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Mintz-Hittner et al. (2004) studied 7 members of a 3-generation African American family, 4 of whom had abnormal craniofacial features and anterior segment developmental anomalies. Clinical features demonstrated extremely variable expressivity, but all affected individuals had wide interpupillary ...
Molecular genetics OMIM In affected members of an African American family with abnormal craniofacial features and anterior segment developmental anomalies, Mintz-Hittner et al. (2004) found a heterozygous G-to-T transversion at codon 256 in the CVC domain of the VSX1 protein that ...