Trichorhinophalangeal Syndrome, Type I; Trps1

Description

Trichorhinophalangeal syndrome type I is a malformation syndrome characterized by distinctive craniofacial and skeletal abnormalities and is inherited as an autosomal dominant (Momeni et al., 2000). TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature.

Clinical Features

Top most frequent phenotypes and symptoms related to Trichorhinophalangeal Syndrome, Type I; Trps1

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Micrognathia
  • Pain
  • Dysarthria
  • Brachydactyly
  • Abnormality of the skeletal system

And another 58 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.)
— The onset for some of the known clinical features related to this disease may vary, including late onset, late onset, and late onset .

Alternative names

Trichorhinophalangeal Syndrome, Type I; Trps1 Is also known as trps i.

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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Trichorhinophalangeal Syndrome, Type I; Trps1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
TRPS1 mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).

TRPS1
Specificity
100 %
Genes
100 %
TRPS1. Complete sequencing.

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

TRPS1
Specificity
100 %
Genes
100 %
TRPS1. Detection of large deletions and/or duplications by MLPA.

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

TRPS1
Specificity
100 %
Genes
100 %
Trichorhinophalangeal Syndrome Type II [Langer-Giedion Syndrome].

By CGC Genetics (Portugal).

TRPS1, EXT1
Specificity
50 %
Genes
100 %
Trichorhinophalangeal syndrome types 1 and 3 (deletion/duplication analysis of TRPS1 gene).

By CGC Genetics (Portugal).

TRPS1
Specificity
100 %
Genes
100 %
Trichorhinophalangeal syndrome type I (sequence analysis of TRPS1 gene).

By CGC Genetics (Portugal).

TRPS1
Specificity
100 %
Genes
100 %
Tricho-Rhino-Phalangeal Syndrome Types I & III via TRPS1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

TRPS1
Specificity
100 %
Genes
100 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RMRP, ROR2, RUNX2, SALL1, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, FBXW4, SHH, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, SQSTM1, TBX15 , (...)

View the complete list with 236 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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