Cataract-aberrant oral frenula-growth delay syndrome
Synonyms: Wellesley-Carman-French syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Childhood
- Status
- active
Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cataract-aberrant oral frenula-growth delay syndrome | Wellesley-Carman-French syndrome |
| fr | Syndrome de cataracte-freins buccaux anormaux-retard de croissance | Syndrome de Wellesley-Carman-French |
| de | Katarakt-aberrante orale Frenula-Wachstumsverzögerung-Syndrom | Wellesley-Carman-French-Syndrom |
| es | Síndrome de catarata-frenillo bucal-retraso del crecimiento | |
| it | Cataratta - frenuli orali - ritardo della crescita | Sindrome di Wellesley-Carman-French |
| nl | Cataract - afwijkend oraal frenulum - groeiachterstand-syndroom | Syndroom van Wellesley-Carman-French |
| pt | Síndrome de catarata-freio oral aberrante-atraso de crescimento | Síndrome Wellesley-Carmen-French |
| pl | Zaćma - nieprawidłowe wędzidełko języka - opóźnienie wzrostu | Zespół Wellesley'a, Carmana i Frencha |
| cs | Syndrom zahrnující kataraktu, aberantní orální frenulum a opožděný růst | Wellesleyové-Carmanův-Frenchův syndrom · Wellesley-Carman-Frenchův syndrom |
| uk | Синдром катаракти - аномальної вуздечки порожнини рота - затримки росту | Синдром Веллеслі-Кармана-Френча |
| zh | 白内障-口腔系带异常-生长迟缓综合征 | Wellesley-Carman-French综合征 |
| tr | Katarakt-anormal oral frenula-büyüme geriliği sendromu | Wellesley-Carman-Fransız sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 115645 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0007277 | E | validated | |
| UMLS | C4274900 | E | validated | |
| GARD | 5554 | 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 (4):
- 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:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic 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 | 3 cases | Worldwide | Case(s) | Validated | 1951441[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1951441[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
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000191 | Accessory oral frenulum | |
| HP:0000518 | Cataract | |
| HP:0001048 | Cavernous hemangioma | |
| HP:0000286 | Epicanthus | |
| HP:0008499 | High hypermetropia | |
| HP:0000023 | Inguinal hernia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000508 | Ptosis | |
| HP:0004322 | Short stature | |
| HP:0001537 | Umbilical hernia | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1373
- This record as JSON: /data/d/1373.json