Lambert syndrome
historical
Synonyms: Branchial dysplasia-intellectual disability-inguinal hernia syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Neonatal
- Status
- historical
A rare multiple congenital anomalies/dysmorphic syndrome characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit. There have been no further descriptions in the literature since 1990.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lambert syndrome | Branchial dysplasia-intellectual disability-inguinal hernia syndrome |
| fr | Syndrome de Lambert | Syndrome de dysplasie branchiale-déficience intellectuelle-hernie |
| de | Lambert-Syndrom | Bronchiale Dysplasie - Intelligenzminderung - Inguinalhernie |
| es | Síndrome de Lambert | |
| it | Displasia branchiale - ritardo mentale - ernia | Sindrome di Lambert |
| nl | Syndroom van Lambert | Branchiale dysplasie - intellectuele achterstand - hernia inguinalis-syndroom |
| pt | Síndrome Lambert | Displasia branquial-perturbação do desenvolvimento intelectual-hérnia inguinal |
| pl | Zespół Lamberta | Dysplazja skrzelowa - niepełnosprawność intelektualna - przepuklina pachwinowa |
| cs | Lambertův syndrom | Syndrom zahrnující dysplázii žaberních oblouků, mentální retardaci a inguinální hernii |
| uk | Синдром Ламберта | Синдром дисплазії гілок - інтелектуальної недостатності - пахової грижі |
| zh | Lambert综合征 | 鳃发育不良-智力障碍-腹股沟疝综合征 |
| tr | Lambert sendromu | Branşiyal displazi-zihinsel yetersizlik-kasık fıtığı sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 245550 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0009507 | E | validated | |
| MeSH | C538396 | E | validated | |
| UMLS | C1855551 | E | validated | |
| GARD | 3169 | 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 (5):
- ORPHA:139036Branchial arch or oral-acral syndrome
rare developmental anomalies during embryogenesis - ORPHA:183576Genetic branchial arch or oral-acral syndrome
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:156202Otomandibular dysplasia associated with monogenic syndromes
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone 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 | 4 cases | Worldwide | Case(s) | Validated | 2352262[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2352262[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
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001531 | Failure to thrive in infancy | |
| HP:0000023 | Inguinal hernia | |
| HP:0001249 | Intellectual disability | |
| HP:0005248 | Intrahepatic biliary atresia | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000272 | Malar flattening | |
| HP:0000154 | Wide mouth | |
| Frequent (79-30%) | ||
| HP:0009794 | Branchial anomaly | |
| HP:0001396 | Cholestasis | |
| HP:0004313 | Decreased circulating antibody level | |
| HP:0000047 | Hypospadias | |
| HP:0000952 | Jaundice | |
| HP:0000384 | Preauricular skin tag | |
| HP:0001629 | Ventricular septal defect | |
| Occasional (29-5%) | ||
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| HP:0001252 | Hypotonia | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1296
- This record as JSON: /data/d/1296.json