Fragile X syndrome
Symptoms include macrocephaly, a long narrow face with prominent ears and a large jaw and forehead, high-arched palate, flat feet, hyperflexible fingers, macroorchidism postpuberty, anxiety, stereotyped movements, and hypotonia.
Adult carriers may have fragile X-associated tremor ataxia syndrome or fragile X-related primary ovarian insufficiency. They also have higher rates of anxiety, depression, hypertension, migraine, and sleep apnea.
Q99.2 – Fragile X chromosome
613003 – Fragile X Syndrome
Differential Diagnosis & Pitfalls