Short-rib thoracic dysplasia 7 with or without polydactyly

General Information (adopted from Orphanet):

Synonyms, Signs: SRPS5
Number of Symptoms 16
OrphanetNr:
OMIM Id: 614091
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000047) Hypospadias 250 / 7739
2
 (HPO:0000107) Renal cyst 21473986 IBIS 126 / 7739
3
 (HPO:0000113) Polycystic kidney dysplasia 75 / 7739
4
 (HPO:0000476) Cystic hygroma 22 / 7739
5
 (HPO:0100259) Postaxial polydactyly 85 / 7739
6
 (HPO:0003026) Short long bone 51 / 7739
7
 (HPO:0006487) Bowing of the long bones 21473986 IBIS 95 / 7739
8
 (HPO:0001159) Syndactyly 21473986 IBIS 140 / 7739
9
 (HPO:0000882) Hypoplastic scapulae 28 / 7739
10
 (HPO:0010442) Polydactyly 21473986 IBIS 69 / 7739
11
 (HPO:0000773) Short ribs 21473986 IBIS 70 / 7739
12
 (HPO:0006644) Thoracic dysplasia 12 / 7739
13
 (HPO:0000774) Narrow chest 21473986 IBIS 167 / 7739
14
 (HPO:0001789) Hydrops fetalis 63 / 7739
15
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
16
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

WDR35;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Mill et al. (2011) reported 2 sibs with a novel severe form of short rib-polydactyly syndrome. The phenotype was most similar to SRPS type III (SRPS3; 263510) but was associated with acromesomelic hypomineralization and campomelia. The sibs exhibited ...
Molecular genetics OMIM In 2 sibs with short rib-polydactyly syndrome V, Mill et al. (2011) identified a homozygous deletion mutation in the WDR35 gene (613602.0005). In an unrelated fetus with SRPS5, they identified compound heterozygosity for a nonsense and a missense ...