ROBINOW-SORAUF SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: CRANIOSYNOSTOSIS-BIFID HALLUX SYNDROME
ACROCEPHALOSYNDACTYLY, ROBINOW-SORAUF TYPE
Number of Symptoms 13
OrphanetNr:
OMIM Id: 180750
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:0003189) Long nose 20 / 7739
2
(HPO:0001357) Plagiocephaly 106 / 7739
3
(HPO:0000316) Hypertelorism 644 / 7739
4
(HPO:0000272) Malar flattening 277 / 7739
5
(HPO:0000586) Shallow orbits 23 / 7739
6
(HPO:0000460) Narrow nose 14 / 7739
7
(HPO:0000486) Strabismus 576 / 7739
8
(HPO:0010055) Broad hallux 56 / 7739
9
(HPO:0010066) Duplication of phalanx of hallux 9 / 7739
10
(OMIM) Thin, long, pointed nose 2 / 7739
11
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
12
(OMIM) Duplicated great toe distal phalanx 1 / 7739
13
(OMIM) Flat facies 5 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Carter et al. (1982) and Young and Harper (1982) described a distinct acrocephalosyndactyly syndrome that the first group of authors suggested be called the Robinow-Sorauf syndrome in recognition of the priority of description by those authors (Robinow and ...
Molecular genetics OMIM In a proband and his mother affected with Robinow-Sorauf syndrome, Kunz et al. (1999) reported a frameshift mutation in the TWIST gene (601622.0009). The authors considered this mutation to be confirmation that the Saethre-Chotzen and Robinow-Sorauf syndromes are ...