SchÖpf-schulz-passarge Syndrome

Description

Schöpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.

Clinical Features

Top most frequent phenotypes and symptoms related to SchÖpf-schulz-passarge Syndrome

  • Neoplasm
  • Alopecia
  • Hyperhidrosis
  • Hyperkeratosis
  • Carcinoma
  • Abnormality of the eye
  • Nail dystrophy
  • Hypotrichosis
  • Palmoplantar keratoderma
  • Hypodontia

And another 21 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

SchÖpf-schulz-passarge Syndrome Is also known as palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome, keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis, eccrine tumors with ectodermal dysplasia, ssps, palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypot.

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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SchÖpf-schulz-passarge Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
WNT10A.

By Institute for Human Genetics University Clinic Freiburg (Germany).

WNT10A
Specificity
100 %
Genes
100 %
WNT10A Gene Sequencing.

By GeneDx (United States).

WNT10A
Specificity
100 %
Genes
100 %
TP63,EDA,EDAR,EDARADD,WNT10A, NextGeneDx.Complete sequencing by NGS.

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

WNT10A, EDARADD, TP63, EDAR, EDA
Specificity
20 %
Genes
100 %
WNT10A. Complete sequencing.

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

WNT10A
Specificity
100 %
Genes
100 %
Odontoonychodermal dysplasia (sequence analysis of WNT10A gene).

By CGC Genetics (Portugal).

WNT10A
Specificity
100 %
Genes
100 %
Ectodermal dysplasia 1, hypohidrotic, X-linked (deletion/duplication analysis of genes EDA, EDAR, EDARADD and WNT10A).

By CGC Genetics (Portugal).

WNT10A, EDARADD, EDAR, EDA
Specificity
25 %
Genes
100 %
Ectodermal Dysplasia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

WNT10A, EDARADD, EDAR, EDA, KRT85, NECTIN1
Specificity
17 %
Genes
100 %
Ectodermal Dysplasia via WNT10A Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

WNT10A
Specificity
100 %
Genes
100 %

We have 39 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Rare Disease Search Engine

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