ORPHA:177
Rhizomelic chondrodysplasia punctata
Synonyms: RCDP
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare, primary bone dysplasia characterized by rhizomelic limb shortening, punctate calcifications in cartilage with epiphyseal and metaphyseal abnormalities (chondrodysplasia punctata) and coronal cleft vertebrae associated with profound postnatal growth deficiency, early-onset cataracts, severe intellectual disability and seizures.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rhizomelic chondrodysplasia punctata | RCDP |
| fr | Chondrodysplasie ponctuée rhizomélique | = en |
| de | Chondrodysplasia punctata, rhizomeler Typ | RCDP · Rhizomele Chondrodysplasia punctata |
| es | Condrodisplasia punctata rizomélica | = en |
| it | Condrodisplasia puntata rizomelica | = en |
| nl | Rhizomele chondrodysplasia punctata | = en |
| pt | Condrodisplasia pontuada tipo rizomélico | |
| pl | Rizomeliczna chondrodysplazja punktowa | = en |
| cs | Rhizomelická chondrodysplasia punctata | RCDP · Rhizomelická chondrodysplázie |
| uk | Різомелічна точкова хондродисплазія | = en |
| zh | 肢根型点状软骨发育不良 | = en |
| tr | Rizomelik kondrodisplazi punktata | = en |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 215100 | BTNT | validated | |
| OMIM | 222765 | BTNT | validated | |
| OMIM | 600121 | BTNT | validated | |
| OMIM | 616716 | BTNT | validated | |
| ICD-10 | Q77.3 | NTBT | attributed | validated |
| ICD-11 | LD24.04 | NTBT | index | validated |
| MONDO | 0015776 | E | validated | |
| MeSH | D018902 | E | validated | |
| UMLS | C0282529 | E | validated | |
| GARD | 13160 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:93442Chondrodysplasia punctata
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:3276Disorder of plasmalogens biosynthesis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:98648Musculoskeletal disease with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:225686Peroxisomal disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
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Genes
0 direct · 4 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| PEX5 | ORPHA:468717Rhizomelic chondrodysplasia punctata type 5 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9719 | ENSG00000139197 | 600414 | 12p13.31 | peroxisomal biogenesis factor 5 | 26220973[PMID] |
| AGPS | ORPHA:309803Rhizomelic chondrodysplasia punctata type 3 | Disease-causing germline mutation(s) in | Assessed | HGNC:327 | ENSG00000018510 | 603051 | 2q31.2 | alkylglycerone phosphate synthase | 21990100[PMID] |
| GNPAT | ORPHA:309796Rhizomelic chondrodysplasia punctata type 2 | Disease-causing germline mutation(s) in | Assessed | HGNC:4416 | ENSG00000116906 | 602744 | 1q42.2 | glyceronephosphate O-acyltransferase | 21990100[PMID] |
| PEX7 | ORPHA:309789Rhizomelic chondrodysplasia punctata type 1 | Disease-causing germline mutation(s) in | Assessed | HGNC:8860 | ENSG00000112357 | 601757 | 6q23.3 | peroxisomal biogenesis factor 7 | 21990100[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.7 / 100 000 | Europe | Value and class | Validated | 34229749[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 / 100 000 | United States | Value and class | Validated | 34229749[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | 34229749[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
20 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0000518 | Cataract | |
| HP:0000958 | Dry skin | |
| HP:0000286 | Epicanthus | |
| HP:0010655 | Epiphyseal stippling | |
| HP:0001510 | Growth delay | |
| HP:0008064 | Ichthyosis | |
| HP:0009826 | Limb undergrowth | |
| HP:0000252 | Microcephaly | |
| HP:0008905 | Rhizomelia | |
| HP:0002650 | Scoliosis | |
| HP:0004322 | Short stature | |
| HP:0002231 | Sparse body hair | |
| Frequent (79-30%) | ||
| HP:0012368 | Flat face | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0003298 | Spina bifida occulta | |
| Occasional (29-5%) | ||
| HP:0001596 | Alopecia | |
| HP:0010864 | Intellectual disability, severe | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/177
- This record as JSON: /data/d/177.json