RIN2 syndrome
RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported.
MONDO:0100237
inherited cutis laxa
is_a
MACS syndrome
exact
RIN2 deficiency
exact
RIN2 syndrome
exact
macrocephaly-alopecia-cutis laxa-scoliosis syndrome
exact
tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome
exact