PRADER-LABHART-WILLI FANCONE SYNDROME

Overview and Facts

Prader-labhart-willi fancone syndrome is an uncommon genetic condition that impacts babies. It affects men and women identically, and individuals of all ages and nationalities are affected. It’s also the most prevalent genetic cause of fatal pediatric obesity, according to research.

Alexis Labhart, Andrea Prader, and Heinrich Willi, Swiss physicians, initially defined Prader-labhart-willi fancone syndrome in 1956 predicated on the clinical features of nine kids they investigated. Small feet and hands, unusual development and body composition at childbirth, compulsive hunger, severe obesity, and intellectual impairment were among the features listed in the preliminary report.

An absence of active genetic material in a specific area on chromosome 15 causes the condition. Individuals typically receive one form of chromosome 15 from their parents.

Types and Symptoms

SYMPTOMS

The symptoms of Prader-labhart-willi fancone syndrome are most likely caused by a malfunction of the hypothalamus, a part of the brain. It is a tiny endocrine organ located near the bottom of the brain that is involved in a variety of body activities.

This condition’s symptoms evolve over time. Among the signs and symptoms are:

Early Life

  • Poor muscular tone
  • Poor sucking flex
  • Growth problems
  • Unable to breastfeed

Childhood to Adulthood

  • uncontrollable hunger
  • impulsive food intake
  • Rapid weight gain
  • cognitive difficulties

Other issues that may arise include:

  • lack of growth hormone
  • small stature
  • sleep disturbances
  • Scoliosis
  • speech apraxia
  • infertility

This disease is a spectrum disease, meaning that the intensity of signs varies from one person to another.

Diagnosis & Medications

DIAGNOSIS

The symptoms and medical history of the patient are used to diagnose Prader-labhart-willi fancone syndrome.

Other tests needed are the following:

  • Methylation analysis. This is a blood test that looks for genetic anomalies.
  • FISH test. This test detects PWS by deletion; however, it does not detect other types of PWS.

TREATMENT

There is currently no treatment for Prader-labhart-willi fancone syndrome, and the majority of studies have focused on addressing specific symptoms. The absence of the most problematic features of the condition, such as insatiable hunger and obesity, would constitute a considerable change in the quality of life and capacity to live freely for many people affected by it.

Related Articles

TETRALOGY OF FALLOT

Overview and FactsTypes and SymptomsDiagnosis & MedicationsOverview and Facts Tetralogy of Fallot is a congenital heart defect that affects the [...]

TRICHINOSIS

Overview and FactsTypes and SymptomsDiagnosis & MedicationsOverview and Facts Trichinosis, also known as trichinellosis, is a parasitic infection caused by [...]

TRIGEMINAL NEURALGIA

Overview and FactsTypes and SymptomsDiagnosis & MedicationsOverview and Facts Trigeminal neuralgia is a neurological condition characterized by severe facial pain. [...]