Rhizomelic chondrodysplasia punctata

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 43
OrphanetNr: 177
OMIM Id: 215100
222765
600121
ICD-10: Q77.3
UMLs: C0282529
MeSH: D018902
MedDRA:
Snomed: 56692003

Prevalence, inheritance and age of onset:

Prevalence: 1 of 100 000 [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Chondrodysplasia punctata
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Metabolic disease with cataract
 -Rare eye disease
 -Rare genetic disease
Musculoskeletal disease with cataract
 -Rare eye disease
 -Rare genetic disease
Neurometabolic disease
 -Rare genetic disease
 -Rare neurologic disease
Peroxisomal disease
 -Rare genetic disease
Peroxisomal disease with epilepsy
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000347) Micrognathia 426 / 7739
2
 (HPO:0000286) Epicanthus Very frequent [Orphanet] 371 / 7739
3
 (HPO:0000175) Cleft palate 349 / 7739
4
 (HPO:0000582) Upslanted palpebral fissure 185 / 7739
5
 (HPO:0005280) Depressed nasal bridge 381 / 7739
6
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
7
 (HPO:0012368) Flat face Frequent [Orphanet] 106 / 7739
8
 (HPO:0000272) Malar flattening 277 / 7739
9
 (HPO:0002007) Frontal bossing 366 / 7739
10
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
11
 (HPO:0000518) Cataract Very frequent [Orphanet] 454 / 7739
12
 (HPO:0000519) Congenital cataract 73 / 7739
13
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
14
 (HPO:0001257) Spasticity 251 / 7739
15
 (HPO:0001250) Seizures 1245 / 7739
16
 (HPO:0001249) Intellectual disability 1089 / 7739
17
 (HPO:0003417) Coronal cleft vertebrae 14 / 7739
18
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
19
 (HPO:0003015) Flared metaphysis 44 / 7739
20
 (HPO:0002751) Kyphoscoliosis 131 / 7739
21
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
22
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
23
 (HPO:0005841) Calcific stippling of infantile cartilaginous skeleton 2 / 7739
24
 (HPO:0008905) Rhizomelia Very frequent [Orphanet] 85 / 7739
25
 (HPO:0001371) Flexion contracture 220 / 7739
26
 (HPO:0010655) Epiphyseal stippling Very frequent [Orphanet] 32 / 7739
27
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
28
 (HPO:0003298) Spina bifida occulta Frequent [Orphanet] 67 / 7739
29
 (HPO:0003510) Severe short stature 90 / 7739
30
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
31
 (HPO:0001525) Severe failure to thrive 13 / 7739
32
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
33
 (HPO:0008064) Ichthyosis Very frequent [Orphanet] 108 / 7739
34
 (HPO:0001596) Alopecia 162 / 7739
35
 (HPO:0002225) Sparse pubic hair Very frequent [Orphanet] 76 / 7739
36
 (HPO:0000958) Dry skin Very frequent [Orphanet] 152 / 7739
37
 (HPO:0001006) Hypotrichosis Occasional [Orphanet] 219 / 7739
38
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
39
 (HPO:0002093) Respiratory insufficiency 410 / 7739
40
 (HPO:0002120) Cerebral cortical atrophy 187 / 7739
41
 (HPO:0002188) Delayed CNS myelination 16 / 7739
42
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
43
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: