Zlotogora-ogur Syndrome

Description

Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.

Clinical Features

Top most frequent phenotypes and symptoms related to Zlotogora-ogur Syndrome

  • Intellectual disability
  • Seizures
  • Micrognathia
  • Cleft palate
  • Wide nasal bridge
  • Downslanted palpebral fissures
  • Abnormality of the dentition
  • Malar flattening
  • Syndactyly
  • Midface retrusion

And another 52 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

Zlotogora-ogur Syndrome Is also known as cleft lip/palate-ectodermal dysplasia syndrome, clped1, ed4, syndactyly-ectodermal dysplasia-cleft/lip palate, cleft lip/palate-syndactyly-pili torti syndrome, ectodermal dysplasia, margarita island type, ectodermal dysplasia, cleft lip and palate, mental retar.

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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Zlotogora-ogur Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 NECTIN1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

NECTIN1
Specificity
100 %
Genes
100 %
Cleft lip, cleft palate and related disorders NGS panel.

By Connective Tissue Gene Tests (United States).

BMP4, TBX22, SUMO1, TP63, TGDS, SATB2, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, GRHL3, FOXE1, IRF6, MSX1, NECTIN1
Specificity
7 %
Genes
100 %
Cleft lip, cleft palate and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

BMP4, TBX22, SUMO1, TP63, TGDS, SATB2, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, GRHL3, FOXE1, IRF6, MSX1, NECTIN1
Specificity
7 %
Genes
100 %
Cleft lip, cleft palate and related disorders Comprehensive panel.

By Connective Tissue Gene Tests (United States).

BMP4, TBX22, SUMO1, TP63, TGDS, SATB2, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, GRHL3, FOXE1, IRF6, MSX1, NECTIN1
Specificity
7 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)

View the complete list with 845 more genes
Specificity
1 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company (Germany).

BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1 , (...)

View the complete list with 1177 more genes
Specificity
1 %
Genes
100 %
Orofacial cleft type 7.

By Centogene AG - the Rare Disease Company (Germany).

NECTIN1
Specificity
100 %
Genes
100 %

We have 6 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like HYPERGLYCINURIA NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1; FAME1 LHERMITTE-DUCLOS DISEASE C1q DEFICIENCY; C1QD

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