Achondrogenesis Type 1B

What is Achondrogenesis Type 1B?

Achondrogenesis Type 1B is one of a group of congenital disorders that affect the development of cartilage and bone.

Achondrogenesis has at least two other types besides Type 1B. There is also type 1A and type 2. The types are distinguished by pattern of inheritance, signs, symptoms and the results of radiological studies, genetic testing and analysis of tissue samples.

What are the symptoms of Achondrogenesis Type 1B?

Common symptoms of Achondrogenesis Type 1B include the following:

• Abnormal enchondral ossification
• Lungs may be absent or small and underdeveloped
• Flat facial shape
• Lethal dwarfism identifiable at birth
• Large head circumference
• Small lower jaw
• Narrow shoulders
• Shortened nose
• Severe Sshort stature

What causes Achondrogenesis Type 1B?

Achondrogenesis Type 1B is inherited in an autosomal recessive Œpattern. An autosomal recessive pattern of inheritance Œmeans that the patient received a mutated gene from each parent. The parents are carriers and don’t have the disorder. The carriers have a recessive mutated gene and a dominant normal gene. Type 1B may be caused by mutations in the SLC26A2Œ gene.

How is Achondrogenesis Type 1B diagnosed?

Achondrogenesis Type 1B is diagnosed bygenetic testing, radiological studies, symptoms and analysis of tissue samples.

What are the treatments for Achondrogenesis Type 1B?

No treatments are available. Symptom management is selected for each individual based on their needs.

Where can I find out more about Achondrogenesis Type 1B?

• NIH
• NORD
• Genetics Home Reference