RIN2 syndrome
Findings
No curated finding names RIN2 syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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 have also been reported.
Definition from the Mondo Disease Ontology (MONDO:0013115), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
49 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Bruising susceptibilityHPOHP:0000978
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Coarse facial featuresHPOHP:0000280
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Diffuse white matter abnormalitiesHPOHP:0007204
- 1 of 1 reported patient
- Dilation of Virchow-Robin spacesHPOHP:0012520
- 1 of 1 reported patient
- Downslanted palpebral fissuresHPOHP:0000494
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- RIN2HGNC:18750
- Definitive · ClinGen · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: RIN2 syndrome
- Also called
- macrocephaly-alopecia-cutis laxa-scoliosis syndromeMACS syndromeRIN2 deficiencytall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome