1. Mendelian
  2. Rare Diseases
  3. BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD

Brachycephaly, Trichomegaly, And Developmental Delay; Btdd

Table of contents:

Description

BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by Paolini et al., 2017).

Genes related to Brachycephaly, Trichomegaly, And Developmental Delay; Btdd

  • RPS23

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Brachycephaly, Trichomegaly, And Developmental Delay; Btdd

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Cleft palate
  • Low-set ears
  • Anemia
  • High palate

And another 18 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

Brachycephaly, Trichomegaly, And Developmental Delay; Btdd Is also known as macinnes syndrome, mcins.

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.

Brachycephaly, Trichomegaly, And Developmental Delay; Btdd Recommended genes panels

Panel Name, Specifity and genes Tested/covered
RPS23.

By Fulgent Genetics Fulgent Genetics (United States).

RPS23
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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