Lambert syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
BRANCHIAL DYSPLASIA, CLUBFOOT, INGUINAL HERNIA, AND BILIARY ATRESIA Branchial dysplasia - intellectual deficit - inguinal hernia |
| Number of Symptoms | 26 |
| OrphanetNr: | 1296 |
| OMIM Id: |
245550
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| ICD-10: |
Q87.8 |
| UMLs: |
C1855551 |
| MeSH: |
C538396 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Branchial arch or oral-acral syndrome
-Rare developmental defect during embryogenesis Genetic branchial arch or oral-acral syndrome -Rare genetic disease Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit -Rare developmental defect during embryogenesis -Rare genetic disease Otomandibular dysplasia associated with monogenic syndromes -Rare developmental defect during embryogenesis -Rare genetic disease -Rare maxillo-facial surgical disease -Rare otorhinolaryngologic disease |
Symptom Information:
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(HPO:0000047) | Hypospadias | Frequent [Orphanet] | 250 / 7739 | |||
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(HPO:0000154) | Wide mouth | Very frequent [Orphanet] | 137 / 7739 | |||
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(HPO:0009796) | Branchial cyst | Frequent [Orphanet] | 32 / 7739 | |||
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(HPO:0000272) | Malar flattening | Very frequent [Orphanet] | 277 / 7739 | |||
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(HPO:0000372) | Abnormality of the auditory canal | Frequent [Orphanet] | 49 / 7739 | |||
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(HPO:0008772) | Aplasia/Hypoplasia of the external ear | Occasional [Orphanet] | 67 / 7739 | |||
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(HPO:0000384) | Preauricular skin tag | Frequent [Orphanet] | 62 / 7739 | |||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001762) | Talipes equinovarus | 309 / 7739 | ||||
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(HPO:0001396) | Cholestasis | Frequent [Orphanet] | 136 / 7739 | |||
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(HPO:0001080) | Biliary tract abnormality | Very frequent [Orphanet] | 26 / 7739 | |||
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(HPO:0005248) | Intrahepatic biliary atresia | 6 / 7739 | ||||
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(HPO:0004299) | Hernia of the abdominal wall | Very frequent [Orphanet] | 176 / 7739 | |||
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(HPO:0000952) | Jaundice | 105 / 7739 | ||||
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(HPO:0000023) | Inguinal hernia | 181 / 7739 | ||||
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(HPO:0004325) | Decreased body weight | Very frequent [Orphanet] | 492 / 7739 | |||
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(HPO:0001511) | Intrauterine growth retardation | Very frequent [Orphanet] | 358 / 7739 | |||
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(HPO:0001629) | Ventricular septal defect | Frequent [Orphanet] | 316 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Occasional [Orphanet] | 990 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(OMIM) | Auricular meatal atresia | 1 / 7739 | ||||
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(OMIM) | Branchial dysplasia | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Interlobular bile duct deficiency | 1 / 7739 | ||||
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(HPO:0002334) | Abnormality of the cerebellar vermis | Occasional [Orphanet] | 137 / 7739 | |||
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(MedDRA:10023129) | Jaundice cholestatic | 3 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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