Warkany Syndrome is A well-described chromosomal abnormality with an average incidence of roughly 1: 25000 to 1: 50000 births is Warkany syndrome 2 or Trisomy 8 mosaicism (T8M). Total trisomy 8 is normally fatal, occurring in 0.8% of spontaneous pregnancy deaths, but T8M has a highly complex phenotype varying from normal to extreme degree of malformation.
Abnormal facies, diminished joint strength, numerous vertebral and costal abnormalities, eye anomalies, pamprodactyly and deep plantar, and palmar creases are found throughout the phenotype. The high characteristics of Trisomy 8 mosaicism are deep plantar creases.
Symptoms of Warkany Syndrome
Skull deformation (scaphocephaly), high forehead, broad-spaced pupils, closely set eyes, wide upturned nose, and micrognathia are characteristic facial characteristics.
- Brain malformations, such as corpus callosum agenesis.
- Extremely arched or cleft tongue
- Shortened neck with folds of excess skin
- A long, thin body with a narrow chest, pelvis, and shoulders
- Cardiac and kidney disorders
- Camptodactylia and rigid joints
- Absent of malformed kneecap
- Malformations of the vertebrum such as scoliosis
- Eye abnormalities
Treatment of Warkany Syndrome
There is no treatment for T8mS, although it may treat certain symptoms of the disease. Based on signs and severity, care can differ. It can be difficult to treat signs with no associated health issues, such as facial deformities, which may require surgery. Heart surgery is also recommended in some cases.