Tetraamelia Syndrome 2; Tetams2

Description

Tetraamelia syndrome-2 (TETAMS2) is characterized by rudimentary appendages or complete absence of the limbs, usually symmetric, as well as bilateral agenesis of the lungs. There are abnormalities of the pulmonary vasculature and dysmorphic features, including bilateral cleft lip/palate, ankyloglossia, mandibular hypoplasia, microretrognathia, and labioscrotal fold aplasia (Szenker-Ravi et al., 2018).For a discussion of genetic heterogeneity of TETAMS, see {273395}.

Clinical Features

Top most frequent phenotypes and symptoms related to Tetraamelia Syndrome 2; Tetams2

  • Micrognathia
  • Low-set ears
  • Ventricular septal defect
  • Cleft lip
  • Oral cleft
  • Pulmonary hypoplasia
  • Microretrognathia
  • Bilateral cleft lip
  • Ankyloglossia
  • Bilateral lung agenesis

And another 2 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

Tetraamelia Syndrome 2; Tetams2 Is also known as tetraamelia syndrome 2 with pulmonary agenesis.

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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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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