Short rib-polydactyly syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 54
OrphanetNr: 1505
OMIM Id:
ICD-10: Q77.2
UMLs: C0036996
MeSH: D012779
MedDRA:
Snomed: 205484001

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Short rib dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Thoracic malformation
 -Rare respiratory disease

Symptom Information: Sort by abundance 

1
(HPO:0000107) Renal cyst Occasional [Orphanet] 126 / 7739
2
(HPO:0000079) Abnormality of the urinary system Occasional [Orphanet] 88 / 7739
3
(HPO:0000047) Hypospadias Very frequent [Orphanet] 250 / 7739
4
(HPO:0000037) Male pseudohermaphroditism Occasional [Orphanet] 25 / 7739
5
(HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
6
(HPO:0000130) Abnormality of the uterus Frequent [Orphanet] 86 / 7739
7
(HPO:0000078) Abnormality of the genital system Very frequent [Orphanet] 33 / 7739
8
(HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
9
(HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
10
(HPO:0000194) Open mouth Frequent [Orphanet] 70 / 7739
11
(HPO:0100736) Abnormality of the soft palate Very frequent [Orphanet] 6 / 7739
12
(HPO:0000457) Depressed nasal ridge Very frequent [Orphanet] 85 / 7739
13
(HPO:0000248) Brachycephaly Very frequent [Orphanet] 222 / 7739
14
(HPO:0000311) Round face Very frequent [Orphanet] 104 / 7739
15
(HPO:0001362) Calvarial skull defect Frequent [Orphanet] 22 / 7739
16
(HPO:0000268) Dolichocephaly Very frequent [Orphanet] 144 / 7739
17
(HPO:0004331) Decreased skull ossification Very frequent [Orphanet] 31 / 7739
18
(HPO:0000204) Cleft upper lip Very frequent [Orphanet] 193 / 7739
19
(HPO:0000158) Macroglossia Frequent [Orphanet] 119 / 7739
20
(HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
21
(HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
22
(HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
23
(HPO:0009738) Abnormality of the antihelix Frequent [Orphanet] 37 / 7739
24
(HPO:0011867) Abnormality of the wing of the ilium Frequent [Orphanet] 123 / 7739
25
(HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
26
(HPO:0003100) Slender long bone Very frequent [Orphanet] 45 / 7739
27
(HPO:0000772) Abnormality of the ribs Very frequent [Orphanet] 146 / 7739
28
(HPO:0006660) Aplastic clavicles Frequent [Orphanet] 70 / 7739
29
(HPO:0008905) Rhizomelia Very frequent [Orphanet] 85 / 7739
30
(HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
31
(HPO:0005616) Accelerated skeletal maturation Very frequent [Orphanet] 46 / 7739
32
(HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
33
(HPO:0001177) Preaxial hand polydactyly Very frequent [Orphanet] 59 / 7739
34
(HPO:0001162) Postaxial hand polydactyly Very frequent [Orphanet] 119 / 7739
35
(HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
36
(HPO:0000954) Single transverse palmar crease Frequent [Orphanet] 162 / 7739
37
(HPO:0003312) Abnormal form of the vertebral bodies Frequent [Orphanet] 172 / 7739
38
(HPO:0006101) Finger syndactyly Frequent [Orphanet] 198 / 7739
39
(HPO:0005257) Thoracic hypoplasia Very frequent [Orphanet] 79 / 7739
40
(HPO:0001561) Polyhydramnios Frequent [Orphanet] 191 / 7739
41
(HPO:0100867) Duodenal stenosis Frequent [Orphanet] 29 / 7739
42
(HPO:0003363) Abdominal situs inversus Very frequent [Orphanet] 19 / 7739
43
(HPO:0002566) Intestinal malrotation Frequent [Orphanet] 89 / 7739
44
(HPO:0012090) Abnormality of pancreas morphology Occasional [Orphanet] 31 / 7739
45
(HPO:0002244) Abnormality of the small intestine Very frequent [Orphanet] 12 / 7739
46
(HPO:0001669) Transposition of the great arteries Frequent [Orphanet] 36 / 7739
47
(HPO:0004383) Hypoplastic left heart Very frequent [Orphanet] 29 / 7739
48
(HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
49
(HPO:0006703) Aplasia/Hypoplasia of the lungs Frequent [Orphanet] 79 / 7739
50
(HPO:0001601) Laryngomalacia Occasional [Orphanet] 61 / 7739
51
(HPO:0000238) Hydrocephalus Frequent [Orphanet] 278 / 7739
52
(HPO:0002120) Cerebral cortical atrophy Frequent [Orphanet] 187 / 7739
53
(HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Frequent [Orphanet] 180 / 7739
54
(HPO:0011420) Death Very frequent [Orphanet] 184 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: