has material basis in germline mutation in RIN2 RIN2 syndrome MONDO:0013115 OMIM:613075 RIN2 syndrome macrocephaly-alopecia-cutis laxa-scoliosis syndrome GARD:0017120 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. UMLS:C2751321 RIN2 deficiency tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome MESH:C567770 tall forehead, sparse hair, skin hyperextensibility, and scoliosis MEDGEN:416526 macrocephaly, alopecia, cutis laxa, and scoliosis MACS syndrome Orphanet:217335 SCTID:723367005 inherited cutis laxa