Rapp-hodgkin Syndrome; Rhs

Clinical Features

Top most frequent phenotypes and symptoms related to Rapp-hodgkin Syndrome; Rhs

  • Short stature
  • Hearing impairment
  • Micrognathia
  • Cleft palate
  • Ptosis
  • Depressed nasal bridge
  • Wide nasal bridge
  • Ventricular septal defect
  • Syndactyly
  • Hypospadias

And another 58 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

Rapp-hodgkin Syndrome; Rhs Is also known as ectodermal dysplasia, anhidrotic, with cleft lip/palate.

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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Rapp-hodgkin Syndrome; Rhs 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.

OMIM ORPHANET Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MUCOPOLYSACCHARIDOSIS, TYPE IVB; MPS4B HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA; HH17 OCULOCUTANEOUS ALBINISM TYPE 6 LETHAL CONGENITAL CONTRACTURE SYNDROME 3; LCCS3 INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E; LGMD1E SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE; SPG74

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