1. Mendelian
  2. Rare Diseases
  3. THAUVIN-ROBINET-FAIVRE SYNDROME; TROFAS

Tall Stature-intellectual Disability-renal Anomalies Syndrome

Table of contents:

Description

Thauvin-Robinet-Faivre syndrome is an autosomal recessive disorder characterized by generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties. More variable features may include congenital heart defects, kidney abnormalities, and skeletal defects. Patients may have an increased risk for Wilms tumor (summary by Akawi et al., 2016).

Genes related to Tall Stature-intellectual Disability-renal Anomalies Syndrome

  • FIBP

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Tall Stature-intellectual Disability-renal Anomalies Syndrome

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Neoplasm
  • Strabismus
  • Sensorineural hearing impairment
  • Abnormal facial shape
  • Epicanthus
  • Macrocephaly

And another 39 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

Tall Stature-intellectual Disability-renal Anomalies Syndrome Is also known as thauvin-robinet-faivre 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.

Tall Stature-intellectual Disability-renal Anomalies Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
FIBP.

By Fulgent Genetics Fulgent Genetics (United States).

FIBP
Specificity
100 %
Genes
100 %

You can get up to -7 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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