Short rib-polydactyly syndrome, Majewski type

General Information (adopted from Orphanet):

Synonyms, Signs: Short rib-polydactyly syndrome type 2
Number of Symptoms 31
OrphanetNr: 93269
OMIM Id: 263520
615087
ICD-10: Q77.2
UMLs:
MeSH:
MedDRA:
Snomed: 72922008

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:0000062) Ambiguous genitalia 74 / 7739
3
 (HPO:0000054) Micropenis rare [HPO:skoehler] 257 / 7739
4
 (HPO:0000175) Cleft palate 349 / 7739
5
 (HPO:0011802) Hamartoma of tongue 4 / 7739
6
 (HPO:0000248) Brachycephaly rare [HPO:skoehler] 222 / 7739
7
 (HPO:0000161) Median cleft lip 27 / 7739
8
 (HPO:0000171) Microglossia rare [HPO:skoehler] 27 / 7739
9
 (HPO:0000888) Horizontal ribs 12 / 7739
10
 (HPO:0006644) Thoracic dysplasia 12 / 7739
11
 (HPO:0005766) Disproportionate shortening of the tibia 2 / 7739
12
 (HPO:0001177) Preaxial hand polydactyly 59 / 7739
13
 (HPO:0000773) Short ribs 70 / 7739
14
 (HPO:0001162) Postaxial hand polydactyly 119 / 7739
15
 (HPO:0000774) Narrow chest 167 / 7739
16
 (HPO:0000895) Lateral clavicle hook 11 / 7739
17
 (HPO:0005873) Polysyndactyly of hallux 2 / 7739
18
 (HPO:0005817) Postaxial polysyndactyly of foot 1 / 7739
19
 (HPO:0001789) Hydrops fetalis 63 / 7739
20
 (HPO:0100732) Pancreatic fibrosis rare [HPO:skoehler] 12 / 7739
21
 (HPO:0001395) Hepatic fibrosis rare [HPO:skoehler] 67 / 7739
22
 (HPO:0002566) Intestinal malrotation rare [HPO:skoehler] 89 / 7739
23
 (HPO:0001631) Atria septal defect rare [HPO:skoehler] 274 / 7739
24
 (HPO:0001629) Ventricular septal defect rare [HPO:skoehler] 316 / 7739
25
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
26
 (HPO:0005349) Hypoplasia of the epiglottis 7 / 7739
27
 (HPO:0001320) Cerebellar vermis hypoplasia rare [HPO:probinson] 57 / 7739
28
 (HPO:0006956) Dilation of lateral ventricles rare [HPO:skoehler] 13 / 7739
29
 (HPO:0010984) Digenic inheritance 4 / 7739
30
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
31
 (HPO:0001302) Pachygyria rare [HPO:probinson] 60 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: