Achondrogenesis Type 2

Description

Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.

Clinical Features

Top most frequent phenotypes and symptoms related to Achondrogenesis Type 2

  • Micrognathia
  • Macrocephaly
  • Frontal bossing
  • Anteverted nares
  • Short neck
  • Short nose
  • Long philtrum
  • Abnormality of cardiovascular system morphology
  • Polyhydramnios
  • Umbilical hernia

And another 14 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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 2 Is also known as achondrogenesis, langer-saldino type.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like YAO SYNDROME; YAOS YOU-HOOVER-FONG SYNDROME; YHFS HYPERTHYROXINEMIA, DYSTRANSTHYRETINEMIC; DTTRH CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE; CRSD AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1; ANFH1 BRONCHOPULMONARY DYSPLASIA

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more