Short rib-polydactyly syndrome, Saldino-Noonan type

General Information (adopted from Orphanet):

Synonyms, Signs: SRPS, TYPE I
SALDINO-NOONAN SYNDROME
POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE I
SRPS1
Short rib-polydactyly syndrome type 1
Number of Symptoms 13
OrphanetNr: 93270
OMIM Id: 263530
ICD-10: Q77.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Short rib-polydactyly syndrome
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare respiratory disease

Symptom Information: Sort by abundance 

1
 (HPO:0000113) Polycystic kidney dysplasia 75 / 7739
2
 (HPO:0100255) Metaphyseal dysplasia 26 / 7739
3
 (HPO:0000773) Short ribs 70 / 7739
4
 (HPO:0005716) Lethal skeletal dysplasia 6 / 7739
5
 (HPO:0100259) Postaxial polydactyly 85 / 7739
6
 (HPO:0001789) Hydrops fetalis 63 / 7739
7
 (HPO:0002589) Gastrointestinal atresia 3 / 7739
8
 (HPO:0001669) Transposition of the great arteries 36 / 7739
9
 (OMIM) Genitourinary atresia 2 / 7739
10
 (OMIM) Osseous acetabular spurs 1 / 7739
11
 (OMIM) Severe micromelia 5 / 7739
12
 (OMIM) Deficient ossification of calvaria, vertebrae, pelvis, and bones of the hands and feet 1 / 7739
13
 (OMIM) Small ilia 5 / 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. There is ...
Clinical Description OMIM SRPS I, like SRPS II, is a lethal condition in the newborn period. The infant has a hydropic appearance, postaxial polydactyly, severely shortened and flipper-like limbs, and striking metaphyseal dysplasia of tubular bones. Ossification is defective in the ...