Cornelia de Lange syndrome

willbelysy

@willbelysy1672679627 · 11 Apr 2022

Cornelia de Lange syndrome

#health Cornelia de Lange syndrome (sCDL) is a multiple congenital malformative disease characterized by being predominantly inherited and causing an alteration in the child's development.

This syndrome manifests itself through a very characteristic facial phenotype, a delay in growth both prenatal and postnatal, and by a disorder of intellectual development or cognitive deficits that can occur to varying degrees.

In addition, on many occasions people who suffer from Cornelia de Lange Syndrome also suffer from some type of abnormality or malformation in their upper extremities.

Clinical characteristics

Among the distinctive physical features of this disease we find a weight below the usual birth weight, being below 22 kg. approximately. As well as slow growth development, short stature and presence of microcephaly.

Other common signs of Cornelia de Lange syndrome are:

- Hirsutism.
- and small feet.
- Partial fusion of the second and third toes on the feet.
- Curved little fingers.
- Esophageal reflux.
- Seizures.
- Cardiac abnormalities.
- Cleft palate.
- Intestinal abnormalities.
- Hearing and vision loss.

According to different studies, the prevalence of this syndrome is one affected person in between 45,000 and 62,000 births. However, most cases of Cornelia de Lange occur in families with dominant inheritance patterns.

Finally, estimating life expectancy is a very complicated task, since it can vary from person to person depending on the severity of the syndrome and the associated pathologies.