SHORT RIB-POLYDACTYLY SYNDROME, TYPE III

General Information (adopted from Orphanet):

Synonyms, Signs: VERMA-NAUMOFF SYNDROME
POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE III
SRPS, TYPE III
SRPS3
Number of Symptoms 11
OrphanetNr:
OMIM Id: 263510
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000062) Ambiguous genitalia 74 / 7739
2
(HPO:0011220) Prominent forehead 137 / 7739
3
(HPO:0005280) Depressed nasal bridge 381 / 7739
4
(HPO:0005469) Flat occiput 30 / 7739
5
(HPO:0000774) Narrow chest 167 / 7739
6
(HPO:0000773) Short ribs 70 / 7739
7
(OMIM) Distinct corticomedullary demarcation of long tubular bones, widened metaphyses, and marked longitudinal spurs 1 / 7739
8
(OMIM) PAS-positive and diastase-resistant cytoplasmic inclusion bodies 1 / 7739
9
(MedDRA:10028923) Neonatal asphyxia 1 / 7739
10
(OMIM) Short cranial base 1 / 7739
11
(OMIM) Rarely cloacal developmental abnormalities 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The short rib-polydactyly syndromes (SRPS) are a group of autosomal recessive lethal skeletal dysplasias characterized by markedly short ribs, short limbs, polydactyly, and multiple anomalies of major organs, including heart, intestines, genitalia, kidney, liver, and pancreas. Five types ...
Clinical Description OMIM Naumoff et al. (1977) suggested that a third type of short rib-polydactyly syndrome exists. They described 3 cases dying perinatally of asphyxia due to thoracic narrowing and found 3 possibly identical cases in the literature. Their cases 1 ...
Molecular genetics OMIM Merrill et al. (2009) and Dagoneau et al. (2009) identified homozygosity or compound heterozygosity for missense or nonsense mutations in the DYNC2H1 gene (603297) in families segregating short rib-polydactyly type III. Dagoneau et al. (2009) also identified DYNC2H1 ...