FBN1-related geleophysic and acromelic dysplasia

Any skeletal dysplasia in which the cause of the disease is a variation in the FBN1 gene. This condition is characterized by short stature, delayed bone age, stiff joints, acromegaly, hip dysplasia, respiratory issues (including sleep apnea and asthma), short hands/feet, and facial anomalies (such as a long philtrum, bulbous nose, broad/depressed nasal bridge, thick lips, and elongation of the eyelashes).