What does CLSD mean in DISEASES

The primary features of CLSD include an abnormally shaped head with flat face, broad forehead, and wide-spaced eyes. Additionally, there may be partial fusion of skull bones; cleft lip and/or palate; sloping shoulder; growth delays; curved spine; reduced muscle tone; nail deformities; small hands; low set ears; hearing loss; cardiac defects and vision problems.

CLSD is a recessive genetic disorder caused by mutations in the FBLN2 gene which can be inherited from either parent who has the mutated gene. It is estimated to affect 1 in every 250,000 individuals worldwide.

Diagnosis of CLSD involves physical examination to evaluate facial features, head shape and size as well as neurological exam to assess muscle tone and strength. Other tests such as MRI or CT scans can also help to identify cranial bone abnormalities or skeletal issues. Genetic testing for FBLN2 mutation can confirm diagnosis.

Treatment for patients with CLSD typically focuses on treating the specific symptoms present such as hearing aids for hearing loss, speech therapy for speech impairments due to cleft palate or breathing support due to weakened respiratory muscles. Surgery may be necessary to treat skeletal abnormalities or heart defects.

There are no known ways to prevent this condition as it is caused by an inherited genetic mutation that cannot be prevented. Therefore it is important that individuals with family history of CLSD receive genetic counseling prior to pregnancy so they can make an informed decision regarding their reproductive choices if they wish do so.