Corneodermatoosseous syndrome
historical
Synonyms: CDO syndrome · Stern-Lubinsky-Durrie syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare, genetic, ectodermal dysplasia syndrome characterized by corneal epithelial changes (ranging from roughening to nodular irregularities), diffuse palmoplantar hyperkeratosis with thickened, erythematous, scaly lesions affecting the elbows, knees and knuckles, distal onycholysis, brachydactyly accompanied by a single transverse palmar crease, short stature, premature birth, and increased susceptibility to tooth decay. Ocular symptoms include photophobia, reduced night vision, burning and watery eyes, and varying visual acuity. There have been no further descriptions in the literature since 1984.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Corneodermatoosseous syndrome | CDO syndrome · Stern-Lubinsky-Durrie syndrome |
| fr | Syndrome cornéodermatoosseux | Syndrome CDO · Syndrome de Stern-Lubinsky-Durrie |
| de | Korneo-dermato-ossäres-Syndrom | CDO-Syndrom · Stern-Lubinsky-Durrie-Syndrom |
| es | Síndrome corneo-dermato-óseo | Síndrome CDO · Síndrome de Stern-Lubinsky-Durrie |
| it | Sindrome corneo-dermo-ossea | Sindrome di Stern-Lubinsky-Durrie |
| nl | Corneodermato-ossaal syndroom | CDO-syndroom · Syndroom van Stern-Lubinsky-Durrie |
| pt | Síndrome corneo-dermato-ósseo | Síndrome CDO · Síndrome Stern-Lubinsky-Durrie |
| pl | Zespół Sterna, Lubinsky'ego i Durrie | Zespół rogówkowo-skórno-kostny |
| cs | Sternův-Lubinského-Durrieův syndrom | Korneodermatooseální syndrom · Stern-Lubinsky-Durrieův syndrom |
| uk | Корнеодерматооссальний синдром | Синдром CDO · Синдром Штерна-Любінського-Дуррі |
| zh | 角膜皮肤骨综合征 | Stern-Lubinsky-Durrie综合征 |
| tr | Korneodermatoosseöz sendrom | CDO sendromu · Stern-Lubinsky-Durrie sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 122440 | E | validated | |
| ICD-10 | H18.5 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0007383 | E | validated | |
| MeSH | C536444 | E | validated | |
| UMLS | C1852542 | E | validated | |
| GARD | 1531 | 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 (2):
- ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:98628Syndromic corneal dystrophy
rare genetic diseases; rare ophthalmic disorders
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 | 7 cases | Worldwide | Case(s) | Validated | 6234802[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6234802[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
20 annotations · validated 2017-09-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000682 | Abnormality of dental enamel | |
| HP:0001817 | Absent fingernail | |
| HP:0001156 | Brachydactyly | |
| HP:0000670 | Carious teeth | |
| HP:0001131 | Corneal dystrophy | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0000613 | Photophobia | |
| HP:0003510 | Severe short stature | |
| HP:0004279 | Short palm | |
| HP:0001072 | Thickened skin | |
| Frequent (79-30%) | ||
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0001167 | Abnormality of finger | |
| HP:0001155 | Abnormality of the hand | |
| HP:0010783 | Erythema | |
| HP:0000230 | Gingivitis | |
| HP:0001622 | Premature birth | |
| Occasional (29-5%) | ||
| HP:0000365 | Hearing impairment | |
| HP:0012047 | Hemeralopia | |
| HP:0000662 | Nyctalopia | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3194
- This record as JSON: /data/d/3194.json