RHIZOMELIC DYSPLASIA, SCOLIOSIS, AND RETINITIS PIGMENTOSA

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 26
OrphanetNr:
OMIM Id: 610319
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:0000705) Amelogenesis imperfecta 25 / 7739
2
 (HPO:0000470) Short neck 345 / 7739
3
 (HPO:0000613) Photophobia 158 / 7739
4
 (HPO:0007663) Reduced visual acuity 100 / 7739
5
 (HPO:0000510) Rod-cone dystrophy 266 / 7739
6
 (HPO:0000486) Strabismus 576 / 7739
7
 (HPO:0000505) Visual impairment 297 / 7739
8
 (HPO:0005792) Short humerus 34 / 7739
9
 (HPO:0000773) Short ribs 70 / 7739
10
 (HPO:0003890) Prominent deltoid tuberosities 1 / 7739
11
 (HPO:0004586) Biconcave vertebral bodies 15 / 7739
12
 (HPO:0002650) Scoliosis 705 / 7739
13
 (HPO:0008905) Rhizomelia 85 / 7739
14
 (HPO:0100864) Short femoral neck 36 / 7739
15
 (HPO:0000885) Broad ribs 21 / 7739
16
 (HPO:0000894) Short clavicles 30 / 7739
17
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
18
 (OMIM) Sloping epiphyses of the radii 1 / 7739
19
 (OMIM) Narrowed lumbar canal 1 / 7739
20
 (OMIM) Scoliosis, severe 3 / 7739
21
 (OMIM) Normal bone age 4 / 7739
22
 (OMIM) Short distal ulnae 1 / 7739
23
 (OMIM) Wide clavicles 3 / 7739
24
 (OMIM) Irregular sacro-iliac joints 1 / 7739
25
 (OMIM) Rhizomelic shortening of the long bones, particularly the upper limbs 1 / 7739
26
 (OMIM) Postnatal short stature 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: