CHROMOSOME 2q31.1 DUPLICATION SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: MESOMELIC DYSPLASIA, 2q31.1 DUPLICATION-RELATED
Number of Symptoms 14
OrphanetNr:
OMIM Id: 613681
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:0012043) Pendular nystagmus rare [HPO:skoehler] 11 / 7739
2
(HPO:0001761) Pes cavus 225 / 7739
3
(HPO:0004684) Talipes valgus 28 / 7739
4
(HPO:0001762) Talipes equinovarus rare [HPO:skoehler] 309 / 7739
5
(HPO:0004696) Talipes cavus equinovarus 13 / 7739
6
(HPO:0001840) Metatarsus adductus 49 / 7739
7
(HPO:0004322) Short stature 1232 / 7739
8
(OMIM) Tibial shortening 1 / 7739
9
(OMIM) Fibula shortening 3 / 7739
10
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
11
(OMIM) Triphalangeal thumb, hypoplastic (in 1 patient) 1 / 7739
12
(OMIM) Radial shortening 2 / 7739
13
(OMIM) Hand anomalies, complex (in some patients) 1 / 7739
14
(OMIM) Ulnar shortening 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Cho et al. (2010) described a 3-generation Korean family segregating autosomal dominant mesomelic dysplasia and a 2q31.1 duplication (see MOLECULAR GENETICS). A brother and sister and their mother and maternal grandmother all had short stature and distinctively short ...