Schinzel-Giedion syndrome is a genetically determined syndrome of birth defects. The Schinzel-Giedion syndrome is characterized by, inter alia, severe mental retardation, characteristic facial features, and a higher risk of cancerous tumors. Due to serious he alth problems, most of those affected do not survive their childhood. What are the causes and other symptoms of Schinzel-Giedion syndrome? What is the treatment?

Schinzel-Giedion syndromeis a group of birth defects that belongs to the group of rare or ultra-rare diseases (less than 1/50000). The disease was described in 1978 and little is known about it.

In Poland, two children are struggling with this disease. There are 70 known cases in the world (data from 2022).

Contents:

  1. Schinzel-Giedion syndrome - causes
  2. Schinzel-Giedion syndrome - symptoms
  3. Schinzel-Giedion syndrome - diagnostics
  4. Schinzel-Giedion syndrome - treatment
  5. Schinzel-Giedion syndrome - prognosis

Schinzel-Giedion syndrome - causes

Schinzel-Giedion syndrome is genetically determined. The reason is a de novo mutation in the SETBP1 gene on chromosome 18q12.

Scientists are still working to understand how mutations in the SETBP1 gene cause symptoms of Schinzel-Giedion syndrome.

The disease is inherited in an autosomal dominant fashion. This means that a person inherits one correct copy and one altered copy of the gene. However, the altered copy of the gene dominates or becomes more important than the working copy. This leaves them with a genetic condition.

Schinzel-Giedion syndrome - symptoms

Characteristic features of the face:

  • chubby facial features
  • high forehead
  • facial hypoplasia
  • low set ears
  • ocular hypertelorism
  • protrusion of the eyeballs due to the shallowness of the orbits
  • nostril forward
  • short, snub nose
  • wide mouth with a big tongue (macroglossia)

Besides, the following appear:

  • reluctance to suck in infancy
  • postnatal growth deficiency
  • wide cranial sutures and large fontanel
  • short neck
  • excessivehair
  • mental retardation
  • epileptic seizures
  • visual or hearing impairment

There are also abnormalities of internal organs, such as:

  • heart (heart defects, e.g. septum defects, patent ductus arteriosus)
  • kidneys (most children with Schönzl-Giedion syndrome collect urine in the kidneys (hydronephrosis), which may be present in one or both kidneys)
  • genital organs (underdevelopment of the genital organs, e.g. hypospadias in boys).

Abnormalities in the skeletal system are also characteristic. The bones at the base of the skull are often extremely hard or thick. In addition, affected individuals may have wide ribs, abnormal collarbones (collarbones), or shortened bones at the tips of their fingers (underdeveloped distal phalanges).

There is also an increased risk of cancer development.

Hania was born with Schinzel-Giedion syndrome

Source: x-news.pl/NOTE! TVN

Schinzel-Giedion syndrome -diagnostics

Diagnosis is made by symptoms and genetic testing.

Schinzel-Giedion syndrome -treatment

Due to the fact that it is a genetic disease, there is no possibility of causal treatment. There is only symptomatic treatment.

The child requires the care of specialists in various fields, including:

  • genetics
  • pediatricians
  • cardiologist
  • ophthalmologist

Schinzel-Giedion syndrome - prognosis

Most children die in childhood or early childhood from progressive neurodegeneration, recurrent infections, and respiratory failure.

Source:

1. SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME, http://omim.org/entry/269150

2. Schinzel-Giedion syndrome, https://ghr.nlm.nih.gov/condition/schinzel-giedion-syndromegenes

3. Schinzel Giedion syndrome, https://rarediseases.info.nih.gov/diseases/117/schinzel-giedion-syndrome

Category:

Genetic diseases