Koolen–De Vries syndrome

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Koolen–De Vries syndrome
Synonyms	17q21.31 microdeletion syndrome
Pronounce
Specialty	Medical genetics
Symptoms	Developmental delay, intellectual disability, hypotonia, distinctive facial features
Complications	N/A
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks
Diagnosis	Genetic testing
Differential diagnosis	Other genetic syndromes
Prevention
Treatment	Supportive care, therapies
Medication
Prognosis	Variable
Frequency	Rare
Deaths	N/A

Koolen–De Vries syndrome (KdVS), also known as 17q21.31 microdeletion syndrome, is a rare genetic disorder characterized by a variety of physical, neurological, and behavioral symptoms. The syndrome was first described by Dutch researchers David Koolen and Bert De Vries in 2006.

Symptoms and Signs

The symptoms of Koolen–De Vries syndrome can vary widely among affected individuals. Common symptoms include developmental delay, intellectual disability, and distinctive facial features. Other symptoms can include heart defects, seizures, and various other physical abnormalities.

Developmental Delay and Intellectual Disability

Most individuals with Koolen–De Vries syndrome experience some degree of developmental delay and intellectual disability. This can range from mild to severe, and can affect various aspects of development, including motor skills, speech and language development, and social and adaptive skills.

Distinctive Facial Features

Individuals with Koolen–De Vries syndrome often have distinctive facial features. These can include a high forehead, long face, upslanting palpebral fissures (the opening between the eyelids), and a tubular or pear-shaped nose.

Other Symptoms

Other symptoms of Koolen–De Vries syndrome can include heart defects, seizures, and various other physical abnormalities. These can include skeletal abnormalities, kidney abnormalities, and abnormalities of the genitals.

Causes

Koolen–De Vries syndrome is caused by a deletion of genetic material from the long (q) arm of chromosome 17 at a location designated q21.31. This deletion occurs as a new (de novo) mutation, which means it is generally not inherited from the parents.

Diagnosis

Diagnosis of Koolen–De Vries syndrome is based on clinical features and confirmed by genetic testing. This testing can identify the characteristic deletion of genetic material from chromosome 17.

Treatment

There is currently no cure for Koolen–De Vries syndrome. Treatment is symptomatic and supportive, and can include physical therapy, speech therapy, and educational support. Medications may be used to manage seizures and other symptoms.

See Also

• Genetic disorder
• Chromosome 17
• Developmental delay
• Intellectual disability

NIH genetic and rare disease info

• NIH info on Koolen–De Vries syndrome

Koolen–De Vries syndrome is a rare disease.