ORPHA:163966
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Synonyms: X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked dominant chondrodysplasia, Chassaing-Lacombe type | X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome |
| fr | Chondrodysplasie dominante liée à l'X type Chassaing-Lacombe | Syndrome de chondrodysplasie dominante lié à l'X-hydrocéphalie-microphtalmie |
| de | Chondrodysplasie, X-chromosomal-dominante, Typ Chassaing-Lacombe | |
| es | Condrodisplasia dominante ligada al cromosoma X tipo Chassaing-Lacombe | Condrodisplasia dominante ligada al cromosoma X-hidrocefalia-microftalmia |
| it | Condrodisplasia dominante legata all'X, tipo Chassaing-Lacombe | Condrodisplasia dominante legata all'X - idrocefalia - microftalmia |
| nl | X-gebonden dominante chondrodysplasie, Chassaing-Lacombe-type | X-gebonden dominante chondrodysplasie - hydrocefalie - microftalmie-syndroom |
| pt | Condrodisplasia dominante ligada ao X, tipo Chassaing-Lacombe | Síndrome de condrodisplasia dominante ligada ao X-hidrocefalia-microftalmia |
| pl | Dominująca chondrodysplazja sprzężona z chromosomem X, typ Chassainga i Lacombe'a | Dominująca chondrodysplazja sprzężona z chromosomem X - wodogłowie - małoocze |
| cs | X-vázaná dominantní chondrodysplázie, Chassaingův-Lacombův typ | Syndrom zahrnující X-vázanou dominantní chondrodysplázii, hydrocefalus a mikroftalmii · X-vázaná dominantní chondrodysplázie, Chassaing-Lacombův typ |
| uk | Х-зчеплена домінантна хондродисплазія, тип Шассена-Лакомба | Х-зчеплений домінантний синдром хондродисплазії-гідроцефалії-мікрофтальмії |
| zh | Chassaing-Lacombe型X连锁显性软骨发育不良 | X连锁显性遗传软骨发育不良-脑积水-小眼畸形综合征 |
| tr | X'e bağlı dominant kondrodisplazi, Chassaing-Lacombe tipi | X'e bağlı baskın kondrodisplazi-hidrosefali-mikroftalmi sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300863 | E | validated | |
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD24.A | NTBT | attributed | validated |
| MONDO | 0010463 | E | validated | |
| UMLS | C4304401 | 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 (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:93438Mesomelic and rhizo-mesomelic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HDAC6 | Disease-causing germline mutation(s) in | Assessed | HGNC:14064 | ENSG00000094631 | 300272 | Xp11.23 | histone deacetylase 6 | 20181727[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 16001442[PMID]_[EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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
24 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000457 | Depressed nasal ridge | |
| HP:0002007 | Frontal bossing | |
| HP:0000238 | Hydrocephalus | |
| HP:0002866 | Hypoplastic iliac wing | |
| HP:0000369 | Low-set ears | |
| HP:0005871 | Metaphyseal chondrodysplasia | |
| HP:0006028 | Metaphyseal cupping of metacarpals | |
| HP:0000568 | Microphthalmia | |
| HP:0000926 | Platyspondyly | |
| HP:0008905 | Rhizomelia | |
| HP:0001773 | Short foot | |
| HP:0003196 | Short nose | |
| HP:0004279 | Short palm | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0008364 | Abnormality of the calcaneus | |
| HP:0001522 | Death in infancy | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000883 | Thin ribs | |
| Occasional (29-5%) | ||
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0000962 | Hyperkeratosis | |
| HP:0000347 | Micrognathia | |
| HP:0000322 | Short philtrum | |
| HP:0000154 | Wide mouth | |
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/163966
- This record as JSON: /data/d/163966.json