Brachman-de Lange syndrome
Brachmann-de Lange Syndrome (BdLS), also known as Cornelia de Lange Syndrome (CdLS), is a rare genetic disorder characterized by distinctive facial features, growth delays, intellectual disability, and limb abnormalities. It is named after the Dutch pediatricians Cornelia Catharina de Lange and W. Brachmann, who independently described the condition in the 20th century.
Etiology[edit | edit source]
BdLS is primarily caused by mutations in the NIPBL, SMC1A, SMC3, RAD21, and HDAC8 genes. These genes are involved in the regulation of gene expression, and their mutations lead to the disruption of normal development. The majority of cases are sporadic, meaning they occur in people with no history of the disorder in their family.
Clinical Features[edit | edit source]
Individuals with BdLS typically have distinctive facial features such as synophrys (joined eyebrows), long eyelashes, a short nose, and downturned corners of the mouth. Growth delays are evident from birth, with most affected individuals having low birth weight and experiencing slow growth throughout life. Intellectual disability ranges from moderate to severe, and there may be associated behavioral problems. Limb abnormalities such as small hands and feet, oligodactyly (fewer than normal number of digits), and upper limb reductions are also common.
Diagnosis[edit | edit source]
Diagnosis of BdLS is primarily based on clinical features. Genetic testing can confirm the diagnosis and identify the specific gene mutation. However, a negative genetic test does not rule out the syndrome, as not all causative genes have been identified.
Management and Prognosis[edit | edit source]
Management of BdLS involves a multidisciplinary approach, addressing the various physical, developmental, and behavioral challenges associated with the syndrome. Prognosis varies widely, depending on the severity of symptoms and the presence of associated health problems.
See Also[edit | edit source]
References[edit | edit source]
- OMIM - Online Mendelian Inheritance in Man
- GeneReviews
- Orphanet
NIH genetic and rare disease info[edit source]
Brachman-de Lange syndrome is a rare disease.
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