Autosomal Recessive Cutis Laxa Type 2b

Description

Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.

Clinical Features

Top most frequent phenotypes and symptoms related to Autosomal Recessive Cutis Laxa Type 2b

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Micrognathia
  • Abnormal facial shape
  • Epicanthus

And another 39 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

Autosomal Recessive Cutis Laxa Type 2b Is also known as autosomal recessive cutis laxa type 2, progeroid type, cutis laxa with progeroid features, arcl2, progeroid type, arcl2b.

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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Autosomal Recessive Cutis Laxa Type 2b Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
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 %
Cutis laxa type IIIB, AR (sequence analysis of PYCR1 gene).

By CGC Genetics (Portugal).

PYCR1
Specificity
100 %
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 %
Cutis Laxa via PYCR1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

PYCR1
Specificity
100 %
Genes
100 %
Cutis laxa Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

ATP6V0A2, EFEMP2, ELN, FBLN5, LTBP4, ATP6V1A, ATP6V1E1, PYCR1, ALDH18A1
Specificity
12 %
Genes
100 %
Cutis laxa NGS panel.

By Connective Tissue Gene Tests (United States).

ATP6V0A2, EFEMP2, ELN, FBLN5, LTBP4, ATP6V1A, ATP6V1E1, PYCR1, ALDH18A1
Specificity
12 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Search Engine

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