CHROMOSOME 17p13.3, TELOMERIC, DUPLICATION SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 3
SHFLD3
Number of Symptoms 16
OrphanetNr:
OMIM Id: 612576
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:0012165) Oligodactyly 18 / 7739
2
(HPO:0100257) Ectrodactyly 27 / 7739
3
(HPO:0200054) Foot monodactyly 6 / 7739
4
(HPO:0001171) Split hand 72 / 7739
5
(HPO:0001762) Talipes equinovarus 309 / 7739
6
(HPO:0001156) Brachydactyly syndrome 180 / 7739
7
(HPO:0004058) Hand monodactyly 8 / 7739
8
(OMIM) Absent halluces 2 / 7739
9
(OMIM) Toe hypoplasia or aplasia 1 / 7739
10
(OMIM) Distal femoral bifurcation (rare) 1 / 7739
11
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
12
(OMIM) Camptodactyly, third and fourth digits (in some patients) 1 / 7739
13
(OMIM) Pes varus 3 / 7739
14
(OMIM) Syndactyly, third and fourth digits (in some patients) 1 / 7739
15
(MedDRA:10072883) Brachydactyly 153 / 7739
16
(OMIM) Tibial aplasia and/or hypoplasia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Richieri-Costa et al. (1987) reported a Brazilian family in which 8 members were affected with various limb abnormalities, including 2 sisters, offspring of consanguineous parents, who had different limb anomalies: the tibial aplasia-ectrodactyly syndrome was present in one ...
Molecular genetics OMIM On the basis of segregation analysis and multipoint lod scores in a 4-generation Brazilian family with SHFLD3, Lezirovitz et al. (2008) defined a 3-cM candidate region between markers D17S1529 and D17S831, encompassing 18 known genes. Sequencing of candidate ...