coffin-siris syndrome

Nicolaides-Baraitser Syndrome: Causes, Symptoms & Treatment

Nicolaides-Baraitser syndrome is a disease that affects only a small number of individuals. Nicolaides-Baraitser syndrome represents a congenital disorder that consequently exists in affected individuals from birth. Some symptoms only become apparent with increasing age. The leading symptoms of Nicolaides-Baraitser syndrome include abnormalities of the fingers, short stature, and disturbances in the hairiness of the … Nicolaides-Baraitser Syndrome: Causes, Symptoms & Treatment

Nail Hypoplasia: Causes, Treatment & Help

Nail hypoplasia is an underdevelopment of one or more finger or toe nails and occurs mainly in syndromes and embryopathies. Minor nail hypoplasia does not have to be of disease value and does not require therapy. Disruptive nail hypoplasia can be corrected with nail bed grafts. What is nail hypoplasia? Hypoplasias are malformations that can … Nail Hypoplasia: Causes, Treatment & Help

Coffin-Siris Syndrome: Causes, Symptoms & Treatment

Coffin-Siris syndrome is a congenital malformation syndrome with the leading symptom of short stature. The syndrome is caused by a genetic mutation that usually occurs sporadically. Therapy focuses on treating the epilepsy. What is Coffin-Siris syndrome? Several subgroups exist of the so-called malformation syndromes. For example, some malformation syndromes are predominantly associated with short stature. … Coffin-Siris Syndrome: Causes, Symptoms & Treatment