Rapadilino Syndrome
Rapadilino Syndrome Causes
Rapadilino syndrome is caused by germ-line alterations in the RECQL4 helicase gene (a member of the RECQL gene family), which are also mutated in some Rothmund-Thomson syndrome (RTS) patients.
Rapadilino Syndrome Definition
Rapadilino syndrome is a rare genetic disorder, inherited via autosomal recessive trait, characterized by short stature, radial and patellar aplasia, cleft or arched palate, limb malformation, radial ray defects, and dislocated joints.
Rapadilino Syndrome Diagnosis
A mutation screening of patients can lead to a detection of RECQL4 mutations, which are characteristic of Rapadilino syndrome.
Rapadilino Syndrome Symptoms and Signs
Patients with Rapadilino syndrome exhibit craniofacial anomalies, more commonly in the form of a long face, long slender nose, narrow palpebral fissures, unusual ears, small chin, cleft palate, high arched palate, and hearing defects. Other known symptoms include patellar aplasia/hypoplasia, thumb agenesis (or the absence of thumbs), radial aplasia/hypoplasia, dislocation of the joints, still interphalangeal joints, infantile diarrhea, and mottled or stippled pigmentation. Inflicted patients are commonly small in stature and have normal intelligence.