Trichorhinophalangeal Syndrome Type 1 And 3

Description

Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones.

Clinical Features

Top most frequent phenotypes and symptoms related to Trichorhinophalangeal Syndrome Type 1 And 3

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Micrognathia
  • Muscular hypotonia
  • High palate
  • Brachydactyly
  • Frontal bossing
  • Abnormality of the dentition

And another 40 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

Trichorhinophalangeal Syndrome Type 1 And 3 Is also known as sugio-kajii syndrome.

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.

Trichorhinophalangeal Syndrome Type 1 And 3 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 %

You can get up to 36 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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