RIN2 syndrome

RIN2 syndrome is a very rare inherited connective tissue disorder. It is characterized by features such as an abnormally large head (macrocephaly), sparse scalp hair, soft and hyperextensible skin, and joint hypermobility. Other physical features include progressive facial coarsening with downslanted eye openings, fullness of the upper eyelids, and abnormalities involving the teeth and gums. People with RIN2 syndrome may also experience scoliosis (curvature of the spine) and, in some cases, other rarer features such as an abnormal high-pitched voice, lung complications like bronchiectasis, hormonal imbalances, and shortened fingers (brachydactyly).

Common signs of RIN2 syndrome include a large head, sparse hair, very soft and stretchy skin, and joint hypermobility. There is also a typical appearance of the face with downslanted eye openings, thick and everted lips, gum overgrowth, and unusual tooth positioning. Scoliosis is another key feature reported in people with this condition.

RIN2 syndrome is caused by changes in the RIN2 gene. It is an inherited condition, meaning that it is passed down through families. The alterations in this gene affect connective tissue in the body, which can explain the physical characteristics seen in affected individuals.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.