Cornelia de Lange syndrome 1
Overview
Cornelia de Lange Syndrome aka CdLS is a little known genetic disorder that can lead to severe developmental anomalies. It affects both the physical and intellectual development of a child. Exact incidence is unknown, but is estimated at 1 in 10,000 to 30,000.
Symptoms
Low birth weight (usually under 5 pounds / 2.5 kilograms) Delayed growth and small stature Developmental delay Limb differences (missing limbs or portions of limbs) Small head size (microcephaly) Thick eyebrows, which typically meet at midline (synophrys) Long eyelashes* Short upturned nose and thin downturned lips Long philtrum Excessive body hair Small hands and feet
Causes
gene responsible for CdLS—NIPBL on Chromosome 5—was discovered in 2004 by researchers at Children’s Hospital of Philadelphia. In 2006, a second gene—SMC1A on the X chromosome—was found by Italian scientists. A third gene discovery was announced in 2007. The gene SMC3 is on chromosome 10 and was also discovered by the research team in Philadelphia. The latter two genes seem to correlate with a milder form of the syndrome.
Diagnosis
The diagnosis of CdLS is primarily a clinical one based on signs and symptoms (see below) observed through an evaluation by a physician, including a medical history, physical examination, and laboratory tests. Since 2006, testing for NIPBL and SMC1A has been available through the University of Chicago. This is best accomplished through a referral to a genetics specialist or clinic.
Treatment
Often, an interdisciplinary approach to therapy and treatment of any medical issues that arise is recommended. A team for promotion of the child's well being often includes speech, occupational and physical therapists, teachers, physicians, and most importantly the parent(s).