Macrocephaly alopecia cutis laxa and scoliosis (MACS) syndrome
Evidence-based neurology checklist on macrocephaly alopecia cutis laxa and scoliosis (macs) syndrome: Genetics This is caused by mutations in the RIN2 gene on chromosome 20p The transmission is autosomal recessive The mutations causes fibulin-5 deficiency Dysmorphic features Dermatological…
Genetics
- This is caused by mutations in the RIN2 gene on chromosome 20p
- The transmission is autosomal recessive
- The mutations causes fibulin-5 deficiency
Dysmorphic features
Dermatological features
Skeletal features
Dental features
Other features
Synonym
References
- Rosato S, Syx D, Ivanovski I, et al. RIN2 syndrome: expanding the clinical phenotype. Am J Med Genet A 2016; 170:2408-2415.
- Basel-Vanagaite L, Sarig O, Hershkovitz D, et al. RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. Am J Hum Genet 2009; 85:254-263.
- Aslanger AD, Altunoglu U, Aslanger E, Satkın BN, Uyguner ZO, Kayserili H. Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2. Am J Med Genet A 2014; 164A:484-489.
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