Perlman syndrome

Perlman syndrome
Synonyms	Renal hamartomas, Nephroblastomatosis, Fetal gigantism
Pronounce	N/A
Specialty	N/A
Symptoms	Macrosomia, Hypotonia, Renal abnormalities, Wilms' tumor
Complications	N/A
Onset	Prenatal
Duration	Lifelong
Types	N/A
Causes	Genetic mutation in the DIS3L2 gene
Risks	Increased risk of Wilms' tumor
Diagnosis	Genetic testing, Ultrasound, MRI
Differential diagnosis	Beckwith-Wiedemann syndrome, Sotos syndrome
Prevention	N/A
Treatment	Symptomatic and supportive care
Medication	N/A
Prognosis	Poor, with high neonatal mortality
Frequency	Rare
Deaths	N/A

Perlman syndrome is a rare genetic disorder characterized by overgrowth, distinctive facial features, and an increased risk of developing Wilms tumor, a type of kidney cancer. It is also known as renal hamartomas, nephroblastomatosis, and fetal gigantism.

Presentation

Individuals with Perlman syndrome typically present with prenatal overgrowth, which can be detected via ultrasound during pregnancy. After birth, affected individuals may exhibit macrosomia (excessive birth weight), macrocephaly (large head size), and distinctive facial features such as deep-set eyes, epicanthal folds, a broad nasal bridge, and macroglossia (enlarged tongue). Other common features include nephromegaly (enlarged kidneys), nephroblastomatosis (abnormal kidney tissue), and cryptorchidism (undescended testes) in males.

Genetics

Perlman syndrome is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected. The specific gene or genes responsible for Perlman syndrome have not been definitively identified, but it is believed to involve mutations in genes that regulate cell growth and development.

Diagnosis

Diagnosis of Perlman syndrome is based on clinical features and may be confirmed through genetic testing. Prenatal diagnosis may be possible through ultrasound findings and genetic testing if there is a known family history of the disorder.

Management

Management of Perlman syndrome involves regular monitoring for the development of Wilms tumor and other potential complications. This may include regular abdominal ultrasounds and urinalysis. Supportive care to address feeding difficulties, respiratory issues, and developmental delays may also be necessary.

Prognosis

The prognosis for individuals with Perlman syndrome varies. Some affected individuals may have a shortened lifespan due to complications such as Wilms tumor or severe nephroblastomatosis. Early detection and management of complications can improve outcomes.

See also

• Beckwith-Wiedemann syndrome
• Sotos syndrome
• Simpson-Golabi-Behmel syndrome
• Overgrowth syndrome

External links

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