PARC syndrome
historical
Synonyms: Poikiloderma-alopecia-retrognathism-cleft palate syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- historical
PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | PARC syndrome | Poikiloderma-alopecia-retrognathism-cleft palate syndrome |
| fr | Syndrome PARC | Syndrome de poïkilodermie-alopécie-rétrognathie-fente palatine |
| de | PARC-Syndrom | Poikilodermie, Alopezie, Retrognathie, Gaumenspalte |
| es | Síndrome PARC | Síndrome de poiquilodermia-alopecia-retrognatia-paladar hendido |
| it | Sindrome PARC | Poichilodermia - alopecia - retrognazia - palatoschisi |
| nl | PARC-syndroom | Poikilodermie - alopecie - retrognathie - gespleten verhemelte-syndroom |
| pt | Síndrome PARC | Síndrome de poiquilodermia-alopecia-retrognatia-fenda palatina |
| pl | Zespół PARC | Poikilodermia - łysienie - retrognatyzm - rozszczep podniebienia |
| cs | PARC syndrom | Syndrom zahrnující poikilodermii, alopecii, retrognatii a rozštěp patra |
| uk | Синдром PARC | Синдром пойкилодермії - алопеції - ретрогнатії - розщілини піднебіння |
| zh | PARC综合征 | 皮肤异色-脱发-下颌后缩-腭裂综合征 |
| tr | PARC sendromu | Poikiloderma-alopesi-retrognatizm-yarık damak sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600331 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0010867 | E | validated | |
| MeSH | C537174 | E | validated | |
| UMLS | C1838256 | E | validated | |
| GARD | 4223 | 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 (3):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial 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 | 2 cases | Worldwide | Case(s) | Validated | 2242783[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2242783[PMID] |
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/2825
- This record as JSON: /data/d/2825.json