CRANIOSYNOSTOSIS, ADELAIDE TYPE

General Information (adopted from Orphanet):

Synonyms, Signs: CRSA
Number of Symptoms 9
OrphanetNr:
OMIM Id: 600593
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001363) Craniosynostosis 132 / 7739
2
(HPO:0010164) Cone-shaped epiphyses of the toes 1 / 7739
3
(HPO:0006110) Shortening of all middle phalanges of the fingers 7 / 7739
4
(HPO:0006118) Shortening of all distal phalanges of the fingers 3 / 7739
5
(HPO:0010230) Cone-shaped epiphyses of the phalanges of the hand 34 / 7739
6
(HPO:0005776) Carpal bone malsegmentation 1 / 7739
7
(HPO:0001822) Hallux valgus 70 / 7739
8
(OMIM) Coned epiphyses of hands and feet 1 / 7739
9
(OMIM) Phalangeal, tarsonavicular and calcaneonavicular foot fusions 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ades et al. (1994) described a southern Australian kindred with a form of craniosynostosis initially thought to represent the Jackson-Weiss syndrome (123150). They found in the hands coned epiphyses, distal and middle phalangeal hypoplasia, and carpal bone malsegmentation ...