Wolf-Hirschhorn syndrome What we need to know

Wolff-Hirschhorn syndrome (WHS) is a genetic disorder resulting from a missing portion of the short arm of chromosome 4 (deletion or monosomy).

The syndrome affects many parts of the body. The main characteristic features are a distinctive facial appearance, growth and development delay, mental retardation, low muscle tone (hypotonia) and seizures.

Synonyms of Wolf-Hirschhorn syndrome:

  • 4p deletion syndrome
  • 4p – syndrome
  • Chromosome 4p deletion syndrome
  • Chromosome 4p is monosomy
  • del(4p) syndrome
  • Monosomy 4p
  • Partial monosomy 4p
  • WHS
  • Peet-Rogers-Danks syndrome – A condition called Peet-Rogers-Danks syndrome has features that overlap with Wolff-Hirschhorn syndrome. Researchers recognize that the two conditions are actually part of the same syndrome, with slightly different signs and symptoms.

Etiology

In most cases, Wolff-Hirschhorn syndrome is not hereditary. It results from a chromosomal deletion that occurs as a random event during the formation of germ cells (egg or sperm) or during the early stages of fetal development.

The specific cause of the syndrome is the loss of several genes on the short arm of chromosome 4. NSD2, LETM1 and MSX1 are genes that are deleted in people with typical signs and symptoms of the disease.

Each missing gene causes a separate set of symptoms for the condition. For example, one is associated with facial abnormalities, and the other appears to cause seizures, which affect nearly all children with Wolff-Hirschhorn. This chromosomal change is sometimes referred to as a 4p- (deletion). Studies show that the larger the deletion, the more severe the mental retardation and physical impairment.

prevalence

The prevalence of Wolff-Hirschhorn syndrome is estimated to be 50000 in 1 births. However, this may be an underestimate because some people with WHS syndrome are never diagnosed.

For unknown reasons, Wolff-Hirschhorn syndrome occurs in about twice as many women as men.

Symptoms

Symptoms of Wolff-Hirschhorn syndrome (WHS) include:

  • skeletal anomalies;
  • Convulsions;
  • congenital heart defects;
  • Hearing impairment;
  • Malformations of the urinary tract;
  • brain structural abnormalities;
  • wide eye placement;
  • reduced distance between nose and upper lip;
  • small chin (micrognathia);
  • asymmetric features of the face;
  • delayed growth and development;
  • Babies have problems with feeding and gaining weight;
  • delayed motor skills such as sitting, standing and walking;
  • low height;
  • blackness of the eyelids;
  • cleft lip or palate;
  • downcast face;
  • scoliosis;
  • kidney problems;
  • Dolichocephaly (increased anterior-posterior dimensions of the skull. Cephalic index less than 76%) / microcephaly.

Learn more about Wolff-Hirschhorn symptoms → (https://rarediseases.info.nih.gov/diseases/7896/wolf-hirschhorn-syndrome)

Diagnosis

Nowadays, diagnostics of Wolff-Hirshhorn deletion syndrome is not difficult. It is mainly based on laboratory data. Chromosome defect is detected by genetic test, and this test is conducted and evaluated based on clinical signs.

Consultation with a geneticist is also recommended during pregnancy (prenatal period). There are two main types of tests available to screen for fetal syndromes: screening tests and diagnostic tests. Screening and diagnostic tests determine whether a fetus has a low or high chance of developing various syndromes. If screening tests show that you have a high risk of having a child with Wolff-Hirschhorn syndrome, it is recommended that you also have a diagnostic test to determine if the fetus has the genetic disorder.

1. Screening Tests – A prenatal screening test can determine if your baby is more or less likely to have birth defects, many of which are genetic disorders. These tests include blood tests, specific ultrasounds, and prenatal cell-free DNA screening.

2. Diagnostic tests – after the screening test, the final answer is given by the diagnostic test, which checks the genetic material of the fetus and therefore can also find out whether the fetus has a genetic disorder. Invasive and non-invasive prenatal diagnostic tests ((NIPT) Verasity, Veragen) are the only, safe and effective way to confirm the diagnostics. Be aware that some diagnostic tests, such as chorionic villus sampling and amniocentesis, carry a small risk of miscarriage.

Learn more about prenatal diagnostics → (https://synevo.ge/prenatal-screening/)

Treatment

There is no cure for Wolff-Hirschhorn syndrome, each patient is unique, so treatment plans are tailored to manage symptoms. Treatment and intervention for WHS must be tailored to the needs of the individual. Patients with a suspected diagnostics should first undergo a comprehensive evaluation by an experienced geneticist.

Most patients may also require the care of several highly trained specialists. Depending on the severity of symptoms, individuals with WHS may be prescribed comprehensive developmental and rehabilitation courses, including nutrition, supportive communication, speech therapy, physical therapy, occupational therapy, cognitive and various academic supports.

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