Wolf–Hirschhorn syndrome

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Obesity, Sleep & Internal medicine
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Wolf–Hirschhorn syndrome
Synonyms	4p deletion syndrome, Pitt-Rogers-Danks syndrome, Pitt syndrome
Pronounce
Specialty	Medical genetics
Symptoms	Growth delay, intellectual disability, seizures, distinct facial features
Complications	N/A
Onset	Prenatal
Duration	Lifelong
Types	N/A
Causes	Genetic mutation (deletion of part of chromosome 4)
Risks
Diagnosis	Genetic testing, karyotype
Differential diagnosis	Cri du chat syndrome, Angelman syndrome, Rett syndrome
Prevention
Treatment	Supportive care, seizure management, physical therapy
Medication	Anticonvulsants
Prognosis	Variable
Frequency	1 in 50,000 births
Deaths

Wolf–Hirschhorn syndrome (WHS) is a genetic disorder characterized by a distinctive facial appearance, delayed growth and development, intellectual disability, and seizures. It is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 4 (4p16.3).

Genetics

Wolf–Hirschhorn syndrome is a result of a chromosomal deletion on the short arm of chromosome 4. The size of the deletion varies among affected individuals, and larger deletions tend to result in more severe symptoms. The critical region for WHS is located at 4p16.3, which includes several genes that are important for normal development.

Clinical Features

Individuals with Wolf–Hirschhorn syndrome often have a characteristic "Greek warrior helmet" facial appearance, which includes a broad, flat nasal bridge and a high forehead. Other common features include:

• Microcephaly
• Hypertelorism (widely spaced eyes)
• Epicanthal folds
• Micrognathia (small jaw)
• Cleft lip and/or palate

Developmental and Intellectual Disabilities

Children with WHS typically experience significant developmental delays and intellectual disabilities. Motor skills such as sitting, standing, and walking are often delayed, and speech development is usually limited. Early intervention and special education programs can help improve outcomes for these children.

Seizures

Seizures are a common feature of Wolf–Hirschhorn syndrome, occurring in a majority of affected individuals. These seizures can vary in type and severity, and they often begin in infancy or early childhood. Management of seizures typically involves antiepileptic drugs and regular monitoring by a healthcare professional.

Diagnosis

Diagnosis of Wolf–Hirschhorn syndrome is based on clinical features and confirmed by genetic testing. Karyotyping and fluorescence in situ hybridization (FISH) can be used to detect the chromosomal deletion. More recently, microarray analysis has become a common method for diagnosing WHS, as it can detect smaller deletions that may not be visible with traditional karyotyping.

Management

There is no cure for Wolf–Hirschhorn syndrome, and treatment focuses on managing symptoms and improving quality of life. This may include:

• Physical therapy to improve motor skills
• Speech therapy to enhance communication abilities
• Occupational therapy to assist with daily living skills
• Anticonvulsant medications to control seizures

Prognosis

The prognosis for individuals with Wolf–Hirschhorn syndrome varies depending on the severity of the condition and the presence of associated health issues. With appropriate medical care and support, many individuals with WHS can lead fulfilling lives.

See also

• Chromosomal deletion
• Genetic disorder
• Intellectual disability
• Seizure disorder