ORPHA:140
Campomelic dysplasia
Synonyms: Campomelic dwarfism
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare skeletal dysplasia characterized by peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible in individuals with a male karyotype.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Campomelic dysplasia | Campomelic dwarfism |
| fr | Dysplasie campomélique | Nanisme campomélique |
| de | Dysplasie, kampomele | |
| es | Displasia campomélica | Enanismo campomélico |
| it | Displasia campomelica | Nanismo campomelico |
| nl | Campomele dysplasie | Campomele dwerggroei |
| pt | Displasia campomélica | Nanismo campomélico |
| pl | Dysplazja kampomeliczna | Karłowatość kampomeliczna |
| cs | Kampomelická dysplázie | Kampomelické trpaslictví |
| uk | Кампомелічна дисплазія | Кампомелійна карликовість |
| zh | 躯干发育异常 | 弯肢性侏儒 |
| tr | Kampomelik displazi | Kampomelik cücelik |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 114290 | E | validated | |
| OMIM | 211990 | BTNT | validated | |
| OMIM | 602196 | BTNT | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD2A.Y | NTBT | index | validated |
| MONDO | 0007251 | E | validated | |
| MeSH | D055036 | E | validated | |
| UMLS | C1861922 | E | validated | |
| GARD | 10027 | 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 (5):
- ORPHA:93439Campomelic dysplasia and related disorders
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:98087Syndrome with 46,XY difference of sex development
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases - ORPHA:325638Syndrome with difference of sex development of gynecological interest
rare genetic diseases; rare gynecological and obstetric diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SOX9 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11204 | ENSG00000125398 | 608160 | 17q24.3 | SRY-box transcription factor 9 | 22051515[PMID]_20301724[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | 0.0003 / 100 000 | Worldwide | Value and class | Validated | [https://www.ncbi.nlm.nih.gov/books/NBK1760/]_ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 1.875 / 100 000 | Worldwide | Value and class | [https://www.ncbi.nlm.nih.gov/books/NBK1760/]_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
38 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000878 | 11 pairs of ribs | |
| HP:0006487 | Bowing of the long bones | |
| HP:0000175 | Cleft palate | |
| HP:0003038 | Fibular hypoplasia | |
| HP:0012368 | Flat face | |
| HP:0002827 | Hip dislocation | |
| HP:0008821 | Hypoplastic inferior ilia | |
| HP:0001601 | Laryngomalacia | |
| HP:0000256 | Macrocephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000774 | Narrow chest | |
| HP:0008477 | Poorly ossified cervical vertebrae | |
| HP:0002757 | Recurrent fractures | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0002650 | Scoliosis | |
| HP:0003026 | Short long bone | |
| HP:0000470 | Short neck | |
| HP:0006584 | Small abnormally formed scapulae | |
| HP:0002982 | Tibial bowing | |
| HP:0002786 | Tracheobronchomalacia | |
| HP:0002779 | Tracheomalacia | |
| Frequent (79-30%) | ||
| HP:0000062 | Ambiguous genitalia | |
| HP:0002980 | Femoral bowing | |
| HP:0000316 | Hypertelorism | |
| HP:0000369 | Low-set ears | |
| HP:0000037 | Male pseudohermaphroditism | |
| HP:0000520 | Proptosis | |
| HP:0004322 | Short stature | |
| HP:0010781 | Skin dimple | |
| HP:0001762 | Talipes equinovarus | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0004408 | Abnormality of the sense of smell | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000365 | Hearing impairment | |
| HP:0000126 | Hydronephrosis | |
| HP:0007036 | Hypoplasia of olfactory tract | |
| HP:0002808 | Kyphosis | |
| HP:0002119 | Ventriculomegaly | |
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/140
- This record as JSON: /data/d/140.json