ORPHA:79345
Brachytelephalangic chondrodysplasia punctata
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of non-rhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, as well as mild and non-rhizomelic shortness of the long bones.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Brachytelephalangic chondrodysplasia punctata | |
| fr | Chondrodysplasie ponctuée avec brachytéléphalangie | |
| de | Chondrodysplasia punctata, brachytelephalangealer Typ | |
| es | Condrodisplasia punctata braquitelefalángica | |
| it | Condrodisplasia puntata brachitelefalangica | |
| nl | Brachytelefalangeale chondrodysplasia punctata | BCDP |
| pt | Condrodisplasia pontuada braquitelefalângica | |
| pl | Chondrodysplazja punktowa ze skróceniem paliczków dystalnych | |
| cs | Brachytelefalangická chondrodysplasia punctata | |
| uk | Брахітелефалангова точкова хондродисплазія | |
| zh | 末节指骨短小点状软骨发育不良 | |
| tr | Brakitelefalanjik kondrodisplazi punktata |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 302950 | E | validated | |
| OMIM | 602497 | BTNT | validated | |
| ICD-10 | Q77.3 | NTBT | attributed | validated |
| ICD-11 | LD24.04 | NTBT | index | validated |
| MONDO | 0010555 | E | validated | |
| MONDO | 10555 | E | validated | |
| MeSH | C000705207 | E | validated | |
| UMLS | C1844853 | E | validated | |
| GARD | 1296 | 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 (2):
- ORPHA:176Non-rhizomelic chondrodysplasia punctata
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:91088Other metabolic disease
rare inborn errors of metabolism; rare genetic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:79344OBSOLETE: Chondrodysplasia punctata, Sheffield type referred to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ARSL | Disease-causing germline mutation(s) in | Assessed | HGNC:719 | ENSG00000157399 | 300180 | Xp22.33 | arylsulfatase L | 20301713[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_Dr BAUJAT Geneviève[EXPERT] |
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
56 annotations · validated 2021-02-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0003196 | Short nose | |
| Frequent (79-30%) | ||
| HP:0000925 | Abnormality of the vertebral column | |
| HP:0000455 | Broad nasal tip | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0010655 | Epiphyseal stippling | |
| HP:0010666 | Hypoplasia of the anterior nasal spine | |
| HP:0000410 | Mixed hearing impairment | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0003508 | Proportionate short stature | |
| HP:0008420 | Punctate vertebral calcifications | |
| HP:0002000 | Short columella | |
| HP:0001857 | Short distal phalanx of toe | |
| Occasional (29-5%) | ||
| HP:0025426 | Abnormal bronchus morphology | |
| HP:0009107 | Abnormal ossification involving the femoral head and neck | |
| HP:3000052 | Abnormality of hyoid bone | |
| HP:0000919 | Abnormality of the costochondral junction | |
| HP:0002099 | Asthma | |
| HP:0003467 | Atlantoaxial instability | |
| HP:0003316 | Butterfly vertebrae | |
| HP:0003320 | C1-C2 subluxation | |
| HP:0004695 | Calcaneal epiphyseal stippling | |
| HP:0002871 | Central apnea | |
| HP:0002341 | Cervical cord compression | |
| HP:0002947 | Cervical kyphosis | |
| HP:0008445 | Cervical spinal canal stenosis | |
| HP:0010646 | Cervical spine instability | |
| HP:0008469 | Cervical vertebral dysplasia | |
| HP:0003417 | Coronal cleft vertebrae | |
| HP:0010171 | Epiphyseal stippling of toe phalanges | |
| HP:0001263 | Global developmental delay | |
| HP:0008434 | Hypoplastic cervical vertebrae | |
| HP:0008754 | Laryngeal calcification | |
| HP:0001742 | Nasal congestion | |
| HP:0002643 | Neonatal respiratory distress | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0004887 | Respiratory failure requiring assisted ventilation | |
| HP:0003416 | Spinal canal stenosis | |
| HP:0010255 | Stippling of the epiphyses of the distal phalanges of the hand | |
| HP:0002789 | Tachypnea | |
| HP:0009928 | Thick nasal alae | |
| HP:0002787 | Tracheal calcification | |
| HP:0002777 | Tracheal stenosis | |
| HP:0008417 | Vertebral hypoplasia | |
| Very rare (<4-1%) | ||
| HP:0001631 | Atrial septal defect | |
| HP:0000518 | Cataract | |
| HP:0011968 | Feeding difficulties | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0007766 | Optic disc hypoplasia | |
| HP:0000609 | Optic nerve hypoplasia | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0004415 | Pulmonary artery stenosis | |
| HP:0001629 | Ventricular septal defect | |
| Excluded (0%) | ||
| HP:0010880 | Increased nuchal translucency | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 24712475[PMID]_20301713[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79345
- This record as JSON: /data/d/79345.json