ORPHA:35173
X-linked dominant chondrodysplasia punctata
Synonyms: CDPX2 · CDPXD · CPXD · Chondrodystrophia calcificans congenita · Conradi-Hünermann-Happle syndrome · X-linked chondrodysplasia punctata type 2
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare genodermatosis disease with great phenotypic variation and characterized most commonly by ichthyosis following the lines of Blaschko, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked dominant chondrodysplasia punctata | CDPX2 · CDPXD · CPXD · Chondrodystrophia calcificans congenita · Conradi-Hünermann-Happle syndrome · X-linked chondrodysplasia punctata type 2 |
| fr | Chondrodysplasie ponctuée dominante liée à l'X | CDPX2 · CDPXD · CPXD · Chondrodysplasie ponctuée liée à X type 2 · Chondrodystrophie congénitale calcifiante · Syndrome de Conradi-Hünermann-Happle |
| de | Chondrodysplasia punctata, X-chromosomal-dominante | CDPX2 · CDPXD · CPXD · Chondrodystrophia calcificans congenita · Conradi-Hünermann-Happle-Syndrom · X-chromosomale Chondrodysplasia punctata Typ 2 |
| es | Condrodisplasia punctata dominante ligada al cromosoma X | CDPX2 · CDPXD · CPXD · Condrodisplasia punctata ligada al cromosoma X tipo 2 · Condrodistrofia congénita calcificante · Síndrome de Conradi-Hünermann-Happle |
| it | Condrodisplasia puntata dominante legata all'X | CDPX2 · CDPXD · CPXD · Condrodisplasia puntata legata all'X, tipo 2 · Condrodistrofia calcificante congenita · Sindrome di Conradi-Hünermann-Happle |
| nl | X-gebonden dominante chondrodysplasia punctata | CDPX2 · CDPXD · CPXD · Chondrodystrophia calcificans congenita · Syndroom van Conradi-Hünermann-Happle · X-gebonden chondrodysplasia punctata type 2 |
| pt | Condrodisplasia pontuada ligada ao X dominante | CDPX2 · CDPXD · CPXD · Condrodisplasia pontuada ligada ao X tipo 2 · Condrodistrofia calcificante congénita · Síndrome Conradi-Hünermann-Happle |
| pl | Dominująca chondrodysplazja punktowa sprzężona z chromosomem X | CDPX2 · CDPXD · Chondrodysplazja punktowa typu 2 sprzężona z chromosomem X · Chondrodystrofia wrodzona ze zwapnieniami · CPXD · Zespół Conradiego, Hünermanna i Happle'a |
| cs | X-vázaná dominantní chondrodysplasia punctata | CDPX2 · CDPXD · CPXD · Chondrodystrophia calcificans congenita · X-vázaná chondrodysplasia punctata, typ 2 · Conradiho-Hünermannův-Happleův syndrom · Conradi-Hünermann-Happleův syndrom |
| uk | Х-зчеплена домінантна точкова хондродисплазія | CDPX2 · CDPXD · Вроджена кальцієва хондродистрофія · Синдром Конраді-Гюнермана-Хеппла · CPXD · Х-зчеплена точкова хондродисплазія 2 типу |
| zh | X-连锁显性点状软骨发育不良 | X-连锁遗传点状软骨发育不良2型 |
| tr | X'e bağlı dominant kondrodisplazi punktata | CPXD · CDPX2 · CDPXD · Conradi-Hünermann-Happle sendromu · Kondrodistrofi kalsifikans konjenita · X'e bağlı kondrodisplazi punktata tip 2 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 302960 | E | validated | |
| ICD-10 | Q77.3 | NTBT | attributed | validated |
| ICD-11 | LD24.04 | NTBT | index | validated |
| MONDO | 0020603 | E | validated | |
| UMLS | C0282102 | E | validated | |
| GARD | 6189 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:98648Musculoskeletal disease with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:176Non-rhizomelic chondrodysplasia punctata
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:79195Sterol biosynthesis disorder
rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare genetic diseases - ORPHA:281210X-linked ichthyosis syndrome
rare genetic diseases; rare skin diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EBP | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3133 | ENSG00000147155 | 300205 | Xp11.23 | EBP cholestenol delta-isomerase | 21634086[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.25 / 100 000 | Europe | Value and class | Validated | 21634086[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Not yet 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.
6
HPO phenotypes
46 annotations · validated 2021-10-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000951 | Abnormality of the skin | |
| HP:0010655 | Epiphyseal stippling | |
| Frequent (79-30%) | ||
| HP:0000929 | Abnormal skull morphology | |
| HP:0100569 | Abnormally ossified vertebrae | |
| HP:0004468 | Anomalous tracheal cartilage | |
| HP:0006619 | Anterior rib punctate calcifications | |
| HP:0000518 | Cataract | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0025474 | Erythematous plaque | |
| HP:0001019 | Erythroderma | |
| HP:0000324 | Facial asymmetry | |
| HP:0002007 | Frontal bossing | |
| HP:0008064 | Ichthyosis | |
| HP:0100559 | Lower limb asymmetry | |
| HP:0040189 | Scaling skin | |
| HP:0004322 | Short stature | |
| HP:0100560 | Upper limb asymmetry | |
| Occasional (29-5%) | ||
| HP:0010720 | Abnormal hair pattern | |
| HP:0002088 | Abnormal lung morphology | |
| HP:0001597 | Abnormal nail morphology | |
| HP:0001197 | Abnormality of prenatal development or birth | |
| HP:0002208 | Coarse hair | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0001371 | Flexion contracture | |
| HP:0000218 | High palate | |
| HP:0002827 | Hip dislocation | |
| HP:0000316 | Hypertelorism | |
| HP:0008434 | Hypoplastic cervical vertebrae | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0000369 | Low-set ears | |
| HP:0000482 | Microcornea | |
| HP:0000568 | Microphthalmia | |
| HP:0005756 | Neonatal epiphyseal stippling | |
| HP:0001998 | Neonatal hypoglycemia | |
| HP:0002232 | Patchy alopecia | |
| HP:0002999 | Patellar dislocation | |
| HP:0004552 | Scarring alopecia of scalp | |
| HP:0008850 | Severe postnatal growth retardation | |
| HP:0045075 | Sparse eyebrow | |
| HP:0000653 | Sparse eyelashes | |
| HP:0008443 | Spinal deformities | |
| HP:0001762 | Talipes equinovarus | |
| Very rare (<4-1%) | ||
| HP:0000377 | Abnormal pinna morphology | |
| HP:0100702 | Arachnoid cyst | |
| HP:0000126 | Hydronephrosis | |
| HP:0000407 | Sensorineural hearing impairment | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 21634086[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/35173
- This record as JSON: /data/d/35173.json