SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIB

General Information (adopted from Orphanet):

Synonyms, Signs: SRPS2B
MAJEWSKI SYNDROME
SRPS, TYPE IIB
Number of Symptoms 33
OrphanetNr:
OMIM Id: 615087
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:0000105) Enlarged kidneys 30 / 7739
2
(HPO:0000054) Micropenis 257 / 7739
3
(HPO:0000113) Polycystic kidney dysplasia 75 / 7739
4
(HPO:0000110) Renal dysplasia 44 / 7739
5
(HPO:0000278) Retrognathia 100 / 7739
6
(HPO:0010297) Bifid tongue 17 / 7739
7
(HPO:0000175) Cleft palate 349 / 7739
8
(HPO:0000316) Hypertelorism 644 / 7739
9
(HPO:0000204) Cleft upper lip 193 / 7739
10
(HPO:0000248) Brachycephaly 222 / 7739
11
(HPO:0010621) Cutaneous syndactyly of toes 36 / 7739
12
(HPO:0000774) Narrow chest 167 / 7739
13
(HPO:0003022) Hypoplasia of the ulna 40 / 7739
14
(HPO:0003038) Fibular hypoplasia 30 / 7739
15
(HPO:0000773) Short ribs 70 / 7739
16
(HPO:0100259) Postaxial polydactyly 85 / 7739
17
(HPO:0001762) Talipes equinovarus 309 / 7739
18
(HPO:0009700) Finger symphalangism 55 / 7739
19
(HPO:0010306) Short thorax 10 / 7739
20
(HPO:0002566) Intestinal malrotation 89 / 7739
21
(HPO:0002023) Anal atresia 135 / 7739
22
(OMIM) Heart defect 2 / 7739
23
(OMIM) Horizontally oriented ribs 1 / 7739
24
(OMIM) Ovoid tibia 1 / 7739
25
(OMIM) Cystic pancreas 1 / 7739
26
(OMIM) Abnormal lung lobulation 2 / 7739
27
(HPO:0002350) Cerebellar cyst 14 / 7739
28
(HPO:0001274) Agenesis of corpus callosum 142 / 7739
29
(OMIM) Tibial agenesis 1 / 7739
30
(OMIM) Tibia shorter than the fibula 1 / 7739
31
(OMIM) Short tubular bones with smooth ends 1 / 7739
32
(OMIM) Lingual hamartoma 1 / 7739
33
(OMIM) Biliary dysplasia 1 / 7739

Associated genes:

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 ...
Molecular genetics OMIM In a proband from a nonconsanguineous family with short-rib polydactyly type II, Thiel et al. (2011) identified heterozygosity for a missense mutation in the DYNC2H1 gene (603297.0016) and heterozygosity for a missense mutation in the NEK1 gene (604588.0003). ...