Short-rib thoracic dysplasia 6 with or without polydactyly

General Information (adopted from Orphanet):

Synonyms, Signs: SRPS2A
Polydactyly with neonatal chondrodystrophy, type II
Majewski syndrome
Short rib-polydactyly syndrome, type II
SRPS, type II
Number of Symptoms 24
OrphanetNr:
OMIM Id: 263520
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:0000062) Ambiguous genitalia 74 / 7739
2
(HPO:0000113) Polycystic kidney dysplasia 75 / 7739
3
(HPO:0000161) Median cleft lip 27 / 7739
4
(HPO:0100259) Postaxial polydactyly 85 / 7739
5
(HPO:0100258) Preaxial polydactyly 39 / 7739
6
(HPO:0000773) Short ribs 70 / 7739
7
(HPO:0002983) Micromelia 130 / 7739
8
(HPO:0005766) Disproportionate shortening of the tibia 2 / 7739
9
(HPO:0100255) Metaphyseal dysplasia 26 / 7739
10
(HPO:0001789) Hydrops fetalis 63 / 7739
11
(HPO:0002589) Gastrointestinal atresia 3 / 7739
12
(HPO:0002089) Pulmonary hypoplasia 80 / 7739
13
(HPO:0005349) Hypoplasia of the epiglottis 7 / 7739
14
(OMIM) Hallucal and postaxial polysyndactyly 1 / 7739
15
(HPO:0001320) Cerebellar vermis hypoplasia 57 / 7739
16
(OMIM) Genitourinary atresia 2 / 7739
17
(OMIM) Dwarfism, identifiable at birth 2 / 7739
18
(HPO:0001302) Pachygyria 60 / 7739
19
(OMIM) Normal pelvis 3 / 7739
20
(OMIM) Glomerular and renal tubular cysts 1 / 7739
21
(OMIM) Deficient vertebral ossification 1 / 7739
22
(OMIM) Cleft-plate 1 / 7739
23
(OMIM) Markedly stunted and disorganized endochondral ossification 1 / 7739
24
(OMIM) Malformed larynx 1 / 7739

Associated genes:

NEK1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The diagnostic criteria for short rib-polydactyly type II (Majewski syndrome) include short and narrow thorax, horizontally oriented ribs, short tubular bones with smooth ends, ovoid tibiae that are shorter than the fibulae or tibial agenesis, and pre- and/or ...
Clinical Description OMIM Majewski et al. (1971) reported 4 personal cases of SRPS and 32 nearly identical or similar cases from the literature. Death occurred perinatally in all. Malformations included median cleft lip, pre- and postaxial polysyndactyly, short ribs and limbs, ...
Genotype-Phenotype Correlations OMIM El Hokayem et al. (2012) reviewed the clinical features of 11 unrelated cases of SRPS type II, 4 of which were due to mutations in the NEK1 gene and 4 due to mutations in the DYNC2H1 gene; in ...
Molecular genetics OMIM Thiel et al. (2011) considered the NEK1 gene, located within the SRPS type II locus region, as a likely candidate for the disorder because mutant mice homozygous for the orthologous gene show polycystic kidney disease, craniofacial anomalies, and ...