Limb-mammary Syndrome

Description

Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias.

Clinical Features

Top most frequent phenotypes and symptoms related to Limb-mammary Syndrome

  • Cleft palate
  • Syndactyly
  • Hypogonadism
  • Camptodactyly
  • Hypodontia
  • Bifid uvula
  • Ectodermal dysplasia
  • Nail dysplasia
  • Amenorrhea
  • Primary amenorrhea

And another 10 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.

Researches and researchers

Doctors, researchs, and experts related to Limb-mammary Syndrome extracted from public data.

Limb-mammary Syndrome Experts map



Current Researchs and researchers

  • KÖLN — Dr Hans Christian HENNIES

    Responsible for diagnostic tests - Investigator of research project - Manager of registry - Coordinator of research network - Director of laboratory

    • Institution/s:
      — Cologne Center for Genomics (CCG) der Universität zu Köln
    • Research area/topic::

      SkinDev: In vitro and in vivo models of congenital rare skin diseases for molecular characterization and drug screening



Mendelian

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Limb-mammary Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
P63-related disorders.

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

TP63
Specificity
100 %
Genes
100 %
TP63 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

TP63
Specificity
100 %
Genes
100 %
Hypospadias Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SALL1, BMP4, SOX2, SRD5A2, HNF1B, MED12, WNT7A, WT1, FBXL4, ZEB2, SETBP1, TP63, PCNT, UBR1, FIG4, CDKN1C, ARX, GRIP1, FRAS1, EVC2 , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %
TP63.

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

TP63
Specificity
100 %
Genes
100 %
TP63. Complete sequencing.

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

TP63
Specificity
100 %
Genes
100 %
TP63. Sequencing of the exon 3.

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

TP63
Specificity
100 %
Genes
100 %
TP63. Sequencing of the exons 13 and 14.

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

TP63
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 %

We have 73 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Genetic Syndrome Finder

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