1. Mendelian
  2. Rare Diseases
  3. ATKIN-FLAITZ SYNDROME

Atkin-flaitz Syndrome

Table of contents:

Description

Atkin-Flaitz syndrome is characterised by moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked.

Clinical Features

Top most frequent phenotypes and symptoms related to Atkin-flaitz Syndrome

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Macrocephaly
  • Downslanted palpebral fissures
  • Frontal bossing
  • Anteverted nares
  • Abnormality of the dentition

And another 26 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

Atkin-flaitz Syndrome Is also known as x-linked intellectual disability, atkin type, atkin 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.

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

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