Pitt–Rogers–Danks syndrome
Pitt–Rogers–Danks syndrome (PRDS) is a rare genetic disorder characterized by growth retardation, intellectual disability, and distinct facial features. It was first described by Pitt DB, Rogers JG, and Danks DM in 1984. The syndrome is caused by a mutation in the WHSC1 gene, which is located on the short arm of chromosome 4 (4p16.3).
Clinical Features[edit | edit source]
The clinical features of PRDS include growth retardation, both before and after birth. Affected individuals often have distinct facial features, such as a prominent forehead, wide-set eyes (hypertelorism), a small nose with a broad nasal bridge, and a thin upper lip. Other features can include intellectual disability, seizures, and hearing loss.
Genetics[edit | edit source]
PRDS is caused by a mutation in the WHSC1 gene, also known as NSD2. This gene provides instructions for making a protein that is involved in the modification of histones, proteins that package and organize the DNA within cells. Mutations in the WHSC1 gene disrupt the normal function of the protein, leading to the features of PRDS.
Diagnosis[edit | edit source]
Diagnosis of PRDS is based on clinical features and confirmed by genetic testing to identify a mutation in the WHSC1 gene.
Treatment[edit | edit source]
There is currently no cure for PRDS. Treatment is supportive and based on the symptoms present in each individual. This can include physical therapy for motor delays, special education for intellectual disability, and management of seizures with medication.
See Also[edit | edit source]
References[edit | edit source]
NIH genetic and rare disease info[edit source]
Pitt–Rogers–Danks syndrome is a rare disease.
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