Cornelia de Lange syndrome 2
Overview
very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. Type 2 is not as severe as type 1 with some of the abnormalities not presenting until later in life or absent altogether. The range and severity of symptoms is variable.
Symptoms
* Low anterior hairline * Joined eyebrows * Anteverted nostrils * Protruding upper jaw * Long upper lip groove
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
There is no cure for CdLS, however, therapeutic interventions (early intervention, speech therapy, occupational therapy, and physical therapy) can help the child with CdLS reach his or her full potential. Speech therapy may be especially important since even the mildly affected child can have communication delays. Also, it is suggested that one of the most important treatments you can provide to the child with CdLS, is to treat them as you would any "typical" child.