Cornelia de Lange syndrome: Year of the Zebra
Cornelia de Lange syndrome, or CdLS for short, is a rare genetic disorder that causes distinctive facial features, restricted and delayed growth, malformations of the hands and feet, and intellectual and developmental delays.
It’s caused by mutations in genes that regulate the expression of cohesin, one of the protein complexes involved in maintaining the structure of chromosomes during cell division.
The severity of the condition varies greatly depending on the type of mutation and affected gene. More than half of individuals have mutations in the NIPBL gene, which is also associated with more severe disease.
Cornelia de Lange syndrome can be inherited in an autosomal dominant or X-linked pattern. However, most cases result from new mutations and occur in people with no family history of the disease.Cornelia de Lange syndrome has many distinct facial features that are characteristic to the disorder including a small head size; a short nose with concave bridge and upturned nostrils; thin, downturned lips; and thick eyebrows that grow together at the base of the nose.
Other clinical manifestations of Cornelia de Lange syndrome represent a spectrum of disease rather than a fixed set of signs and symptoms.
Affected individuals present with growth delays that alter development before and after birth, which is why most infants have a low birth weight and fail to gain weight or grow at the expected rate during infancy.
Many infants have feeding difficulties and gastrointestinal problems, including gastroesophageal reflux and increased risk of bowel obstruction.
Other possible signs and symptoms include breathing difficulties, increased risk of respiratory and ear infections, congenital heart defects or murmurs, hearing loss, visual impairment, and a low-pitched “growling” cry.
They may also exhibit hypertrichosis, or excessive body hair.In most infants, the hands and feet are smaller than usual and limbs may be shortened.
Additionally, they may have fifth fingers that are short and curved towards the ring finger, webbing of certain toes and, in some cases, fusion or absence of one or more fingers.
Finally, children with Cornelia de Lange syndrome experience intellectual disabilities and developmental delays, as well as behavioral issues, which may include aggressive or self-harming behaviors like head-banging, self-biting, or hitting themselves; repetitive behaviors; and speech or communication delays.Cornelia de Lange syndrome is usually diagnosed at birth or during infancy upon identification of the characteristic clinical features.
For a definitive diagnosis, genetic testing can be done to confirm mutations in NIPBL and other associated genes. There is no single treatment for Cornelia de Lange syndrome; rather each problem is addressed individually.
For example, gastroesophageal reflux may be treated with medications to reduce stomach acid production. On the other hand, heart defects and bowel abnormalities may require surgical treatment.
Various orthopedic interventions may be used to help treat limb deformities. All individuals with Cornelia de Lange syndrome may benefit from early interventions such as physical therapy, speech therapy, and occupational therapy to promote development.
It’s often diagnosed at birth or early infancy due to its characteristic clinical features, and diagnosis is confirmed by genetic testing to look for mutations in genes associated with the disease.
Unfortunately, there is no specific treatment to cure the disease, so management involves addressing each problem individually.
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