Chondrodysplasia punctata, tibial-metacarpal type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare, non-rhizomelic, chondrodysplasia punctata syndrome characterized, radiologically, by stippled calcifications and disproportionate, short metacarpals and tibiae (with characteristic overshoot of the proximal fibula), clinically manifesting with severe short stature, bilateral shortening of upper and lower limbs, flat midface and nose, in the absence of cataracts and cutaneous anomalies. Neonatal tachypnea, hydrocephalus and mild developmental delay have been seldomly associated. Additional radiologic features include bowed long bones, platyspondyly and/or vertebral clefts.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Chondrodysplasia punctata, tibial-metacarpal type | |
| fr | Chondrodysplasie ponctuée tibio-métacarpienne | |
| de | Chondrodysplasia punctata, tibiametakarpaler Typ | |
| es | Condrodisplasia punctata tipo húmero-metacarpiana | |
| it | Condrodisplasia puntata tipo tibiale-metacarpale | |
| nl | Chondrodysplasia punctata, tibiaal-metacarpaal type | |
| pt | Condrodisplasia pontuada tipo umero-metacárpica | |
| pl | Chondrodysplazja punktowa, typ piszczelowo-śródręczny | |
| cs | Chondrodysplasia punctata, tibiálněmetakarpální typ | |
| uk | Хондродисплазія точкова, великогомілково-пястковий тип | |
| zh | 点状软骨发育不良，胫骨-掌骨型 | |
| tr | Kondrodisplazi punktata, tibial-metakarpal tip |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 118651 | E | validated | |
| ICD-10 | Q77.3 | NTBT | attributed | validated |
| ICD-11 | LD24.04 | NTBT | index | validated |
| MONDO | 0007322 | E | validated | |
| MeSH | C562961 | E | validated | |
| UMLS | C0432224 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:176Non-rhizomelic chondrodysplasia punctata
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | 2248286[PMID]_14699613[PMID]_25602717[PMID]_36820636[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 2248286[PMID]_14699613[PMID]_25602717[PMID]_36820636[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79346
- This record as JSON: /data/d/79346.json