Rapadilino Syndrome

Below you will find more information about Rapadilino Syndrome from Medigest. If you believe that you are suffering from any of the symptoms of Rapadilino Syndrome it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Rapadilino Syndrome and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Rapadilino Syndrome comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

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.

Diagnosis

A mutation screening of patients can lead to a detection of RECQL4 mutations, which are characteristic of 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.

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.

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