MULTIPLE SYNOSTOSES SYNDROME 2

General Information (adopted from Orphanet):

Synonyms, Signs: SYNS2
Number of Symptoms 7
OrphanetNr:
OMIM Id: 610017
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:0000445) Wide nose 16532400 IBIS 190 / 7739
2
(HPO:0008368) Tarsal synostosis 16532400 IBIS 21 / 7739
3
(HPO:0002948) Vertebral fusion 16532400 IBIS 28 / 7739
4
(HPO:0009700) Finger symphalangism 16532400 IBIS 55 / 7739
5
(HPO:0003041) Humeroradial synostosis 19 / 7739
6
(HPO:0009702) Carpal synostosis 16532400 IBIS 26 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Akarsu et al. (1999) described a large Iranian family with tarsal-carpal coalition, humeroradial synostosis, brachydactyly, and proximal symphalangism inherited in an autosomal dominant pattern. These findings were considered consistent with the syndrome described by Pearlman (see 186400) but ...
Molecular genetics OMIM By mutation screening of a proband with multiple synostoses syndrome, Akarsu et al. (1999) identified a heterozygous missense mutation in the GDF5 gene (601146.0013).

In a family with multiple synostoses syndrome, Dawson et al. (2006) demonstrated ...