Rin2 Syndrome

Description

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.

Clinical Features

Top most frequent phenotypes and symptoms related to Rin2 Syndrome

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Muscular hypotonia
  • Cryptorchidism
  • Cognitive impairment
  • High palate
  • Brachydactyly
  • Macrocephaly
  • Downslanted palpebral fissures

And another 47 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Rin2 Syndrome Is also known as rin2 deficiency, tall forehead, sparse hair, skin hyperextensibility, and scoliosis, tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome, macrocephaly-alopecia-cutis laxa-scoliosis syndrome, macs syndrome, macrocephaly, alopecia, cutis laxa, a.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Rin2 Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Macrocephaly Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

MED12, NSD1, RAB39B, BRWD3, SETD2, RIN2, UPF3B, TBC1D7, RNF125, RNF135, CUL4B, OFD1, HEPACAM, EZH2, GLI3, GPC3, HERC1, KPTN, NFIA, NFIX , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Macrocephaly Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

MED12, NSD1, RAB39B, BRWD3, SETD2, RIN2, UPF3B, TBC1D7, RNF125, RNF135, CUL4B, OFD1, HEPACAM, EZH2, GLI3, GPC3, HERC1, KPTN, NFIA, NFIX , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Connective Tissue Disorders Panel.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States).

BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, TNXB, C1R, C1S, ACTA2, ADAMTS10, SLC2A10, ADAMTSL2, CBS, TAB2, B3GALT6, ATP6V0A2, FKBP14, RIN2 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
Cutis Laxa Panel.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States).

ATP6V0A2, RIN2, GORAB, EFEMP2, ELN, FBLN5, LTBP4, PTDSS1, PYCR1, ALDH18A1
Specificity
10 %
Genes
100 %
Hereditary ichthyosis (NGS panel of 53 genes).

By CGC Genetics (Portugal).

SLC27A4, SNAP29, ST14, STIM1, STS, TGM1, TGM5, SHOC2, SPINK5, SLURP1, RIN2, PSAT1, POMP, VIPAS39, SUMF1, PNPLA1, SRD5A3, PIGL
Specificity
6 %
Genes
100 %
Hereditary ichthyosis (NGS panel of 53 genes).

By CGC Genetics (Portugal).

SLC27A4, SNAP29, ST14, STIM1, STS, TGM1, TGM5, SHOC2, SPINK5, SLURP1, RIN2, PSAT1, POMP, VIPAS39, SUMF1, PNPLA1, SRD5A3, PIGL
Specificity
6 %
Genes
100 %
Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SPARC, TGFBR1, TGFBR2, TNFRSF1A, TNXB, C1R, C1S, LZTS1, ADAMTSL2, B3GALT6, ATP6V0A2, FKBP14, RIN2, CHST3, SLC39A13, DSE, ADAMTS2, COL12A1, COL1A2, COL3A1 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Macrocephaly, Alopecia, Cutis Laxa and Scoliosis (MACS) Syndrome via RIN2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RIN2
Specificity
100 %
Genes
100 %

We have 12 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Genetic Syndrome Finder

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