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RIN2 syndrome

Disease definition

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 (see this term) have also been reported.

ORPHA:217335

Classification level: Disorder
  • Synonym(s):
    • MACS syndrome
    • Macrocephaly-alopecia-cutis laxa-scoliosis syndrome
    • RIN2 deficiency
    • Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q82.8
  • OMIM: 613075
  • UMLS: C2751321
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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