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GTR Home > Conditions/Phenotypes > Congenital hypotrichosis with juvenile macular dystrophy

Congenital hypotrichosis with juvenile macular dystrophy

Synonyms
HYPOTRICHOSIS WITH CONE-ROD DYSTROPHY; Juvenile macular degeneration and hypotrichosis; Juvenile macular dystrophy and congenital hypotrichosis
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Congenital hypotrichosis with juvenile macular dystrophy (HJMD) is an autosomal recessive disorder characterized by hair loss followed by progressive macular degeneration and early blindness. Scalp hair is lost during the first months of life, with onset of retinal degeneration and vision loss a few years to 2 decades later (summary by Sprecher et al., 2001 and Indelman et al., 2002). [from OMIM]

Available tests

25 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (25 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDHP, HJMD, PCAD, CDH3
    Summary: cadherin 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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