Seckel syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.1 | Congenital malformation syndromes that are predominantly associated with short stature - Seckel syndrome |
| ICD-10 online (WHO version 2019) | |
The Seckel syndrome (also known as Harper's syndrome and Virchow-Seckel syndrome ) is a rare genetic disease with the clinical picture of a very highly developed form of dwarfism . The disease was named after its discoverers Helmut Paul George Seckel and Rita G. Harper , whose findings were first published in 1967. The exact number of sufferers is not known, but estimates are around two dozen worldwide.
root cause
Due to its extreme rarity, very little research has been carried out into the disease, which means that the causes that lead to the genetic defect have not yet been conclusively clarified. So far, genetic defects on chromosomes 3 , 14 and 18 have been identified that are responsible for the occurrence of the disease. The defect is autosomal - recessive inherited, that is, both parents must carry a chromosome with this disease, so it comes to the disease.
Symptoms
- mental retardation
- Microcephaly
- extremely short stature (usually less than 1 meter when fully grown)
- very low birth weight (1200 to 1500 grams)
- Hip dysplasia
- Tooth formation disorders
- Cryptorchidism
- Hirsutism
Web links
- More detailed information on the clinical picture
- medical publications on the disease (English)
- Article listing publications (English)
Individual evidence
- ↑ Marian (Ed.): Illness, causes and symptoms of illness . 3. Edition. Facultas.wuv, Vienna 2009, ISBN 978-3-7089-0183-1 , p. 106 .
