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GTR Home > Conditions/Phenotypes > Cutis laxa, autosomal recessive, type 2E

Cutis laxa, autosomal recessive, type 2E

Synonyms
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE

Summary

Autosomal recessive cutis laxa type IIE (ARCL2E) is characterized by connective tissue features, including generalized cutis laxa and inguinal hernia, craniofacial dysmorphology, variable mild heart defects, and prominent skeletal features, including craniosynostosis, short stature, brachydactyly, clinodactyly, and syndactyly (Pottie et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: ARCL2E, LTBP1
    Summary: latent transforming growth factor beta binding protein 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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