Hypotrichosis With Juvenile Macular Degeneration

Description

Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.

Clinical Features

Top most frequent phenotypes and symptoms related to Hypotrichosis With Juvenile Macular Degeneration

  • Short stature
  • Nystagmus
  • Blindness
  • Abnormality of the dentition
  • Alopecia
  • Hyperkeratosis
  • Reduced visual acuity
  • Skeletal dysplasia
  • Sparse hair
  • Hypotrichosis

And another 15 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

Hypotrichosis With Juvenile Macular Degeneration Is also known as hypotrichosis with juvenile macular dystrophy, hypotrichosis with cone-rod dystrophy, hjmd.

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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Hypotrichosis With Juvenile Macular Degeneration Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Macular Degeneration Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RPGR, TIMP3, BEST1, C1QTNF5, ELOVL4, RP1L1, CDH3, RAX2, IMPG2, HMCN1, CNGB3, CTNNA1, MFSD8, DRAM2, EFEMP1, ABCA4, FBLN5, FSCN2, GUCA1B, IMPG1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
CDH3. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

CDH3
Specificity
100 %
Genes
100 %
Ectodermal dysplasia, ectrodactyly and macular dystrophy (sequence analysis of CDH3 gene).

By CGC Genetics (Portugal).

CDH3
Specificity
100 %
Genes
100 %
Stargardt disease and macular distrophy (NGS panel for 14 genes).

By CGC Genetics (Portugal).

RPGR, TIMP3, BEST1, C1QTNF5, ELOVL4, RP1L1, CDH3, RDH12, CNGB3, ABCA4, FSCN2, IMPG1, PROM1, PRPH2
Specificity
8 %
Genes
100 %
Hypotrichosis, congenital, with juvenile macular dystrophy (sequence analysis of CDH3 gene).

By CGC Genetics (Portugal).

CDH3
Specificity
100 %
Genes
100 %
Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome (deletion/duplication analysis of CDH3 gene).

By CGC Genetics (Portugal).

CDH3
Specificity
100 %
Genes
100 %
Hypotrichosis with juvenile macular degeneration (deletion/duplication analysis of CDH3 gene).

By CGC Genetics (Portugal).

CDH3
Specificity
100 %
Genes
100 %
Hypotrichosis, congenital, with juvenile macular dystrophy (sequence analysis of CDH3 gene).

By CGC Genetics (Portugal).

CDH3
Specificity
100 %
Genes
100 %

We have 34 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Rare Disease Search Engine

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