Cutis Laxa, Autosomal Recessive, Type Iid; Arcl2d

Description

Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Cutis Laxa, Autosomal Recessive, Type Iid; Arcl2d

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Failure to thrive
  • Strabismus
  • Cataract
  • Cryptorchidism
  • Low-set ears
  • Flexion contracture

And another 41 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.

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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Cutis Laxa, Autosomal Recessive, Type Iid; Arcl2d Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 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 %
Cutis laxa Comprehensive panel.

By Connective Tissue Gene Tests (United States).

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

By Fulgent Genetics Fulgent Genetics (United States).

ATP6V1A
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

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