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