Achondrogenesis, Type Ii; Acg2

Description

Achondrogenesis type II is characterized by severe micromelic dwarfism with small chest and prominent abdomen, incomplete ossification of the vertebral bodies, and disorganization of the costochondral junction. This form is an autosomal dominant trait occurring mostly as new mutations. However, somatic and germline mosaicism have been reported (summary by Comstock et al., 2010).

Clinical Features

Top most frequent phenotypes and symptoms related to Achondrogenesis, Type Ii; Acg2

  • Micrognathia
  • Cleft palate
  • Abnormality of the skeletal system
  • Edema
  • Abnormality of cardiovascular system morphology
  • Severe short stature
  • Prominent forehead
  • Polydactyly
  • Polyhydramnios
  • Skeletal dysplasia

And another 24 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

Achondrogenesis, Type Ii; Acg2 Is also known as achondrogenesis, langer-saldino type, achondrogenesis, type ib, formerly, chondrogenesis imperfecta.

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 Symptoms Checker

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