Cornelia de Lange syndrome

A genetic disorder characterized by distinctive facial features and developmental delays

Cornelia de Lange syndrome
Synonyms	Bushy syndrome, Amsterdam dwarfism
Pronounce	/ˈkɔːrnəliə də ˈlæŋə/
Field	Medical genetics, Pediatrics
Symptoms	Distinctive facial features, limb abnormalities, growth delays, intellectual disability, behavioral problems
Complications	Feeding difficulties, gastroesophageal reflux, hearing loss, seizures, heart defects
Onset	Congenital (present at birth)
Duration	Lifelong
Types	Classic and mild forms
Causes	Mutations in NIPBL, SMC1A, SMC3, RAD21, HDAC8 genes
Risks	Family history (rare autosomal dominant or X-linked inheritance)
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	Fetal alcohol syndrome, Rubinstein–Taybi syndrome, Smith–Lemli–Opitz syndrome
Prevention	None
Treatment	Supportive therapy, developmental support, surgical correction for defects
Medication	Symptomatic treatment (e.g., antacids for reflux, antiepileptics for seizures)
Prognosis	Variable; depends on severity of symptoms and complications
Frequency	1 in 10,000 to 30,000 live births
Deaths	Rare, related to complications such as severe congenital anomalies

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that affects multiple parts of the body. It is characterized by distinctive facial features, growth delays, intellectual disability, and limb abnormalities. The syndrome is named after the Dutch pediatrician Cornelia de Lange, who first described it in 1933.

Signs and symptoms

Individuals with Cornelia de Lange syndrome often present with a range of physical and developmental characteristics. Common features include:

• Distinctive facial features: These may include arched eyebrows that often meet in the middle (synophrys), long eyelashes, low-set ears, a small and upturned nose, and a thin downturned lip.
• Growth delays: Affected individuals typically have low birth weight and experience slow growth, resulting in short stature.
• Intellectual disability: The degree of intellectual disability can vary from mild to severe.
• Limb abnormalities: These can include small hands and feet, and in some cases, missing fingers or toes.
• Behavioral issues: Some individuals may exhibit self-injurious behavior, hyperactivity, or autistic-like behaviors.
• Other health issues: These can include gastrointestinal problems, hearing loss, and heart defects.

Genetics

Cornelia de Lange syndrome is primarily caused by mutations in the NIPBL gene, which is responsible for the majority of cases. Other genes associated with the syndrome include SMC1A, SMC3, RAD21, and HDAC8. These genes are involved in the cohesin complex, which plays a crucial role in chromosome segregation during cell division and in regulating gene expression.

The syndrome is usually inherited in an autosomal dominant manner, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder. However, most cases result from new (de novo) mutations and occur in people with no history of the disorder in their family.

Diagnosis

Diagnosis of Cornelia de Lange syndrome is based on clinical evaluation and the identification of characteristic physical features. Genetic testing can confirm the diagnosis by detecting mutations in the associated genes. Early diagnosis is important for managing the symptoms and providing appropriate interventions.

Management

There is no cure for Cornelia de Lange syndrome, and treatment focuses on managing the symptoms and improving quality of life. This may involve:

• Developmental support: Early intervention programs, special education, and therapies such as speech, occupational, and physical therapy can help address developmental delays.
• Medical management: Regular monitoring and treatment of associated health issues, such as heart defects, hearing loss, and gastrointestinal problems, are essential.
• Behavioral therapy: Behavioral interventions can help manage self-injurious behavior and other behavioral issues.

Prognosis

The prognosis for individuals with Cornelia de Lange syndrome varies depending on the severity of symptoms and associated health issues. With appropriate medical care and support, many individuals can lead fulfilling lives, although they may require lifelong assistance.

Related pages

• Genetic disorder
• Intellectual disability
• Developmental delay
• Autosomal dominant

Classification	ICD-10: Q87.1 (ILDS Q87.170) OMIM: 122470 DiseasesDB: 29651
External resources	eMedicine: ped/482

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