What is Achondrogenesis?

Achondrogenesis is a rare and severe genetic disorder that affects bone and cartilage development. It results in extremely short limbs, underdeveloped bones, and respiratory complications. This condition is often fatal before or shortly after birth due to severe skeletal abnormalities and lung underdevelopment.

What Causes Achondrogenesis?

Achondrogenesis is caused by genetic mutations affecting bone growth. There are two main types of the condition:

• Achondrogenesis Type 1A and 1B – Caused by mutations in the TRIP11 or SLC26A2 genes.
• Achondrogenesis Type 2 – Caused by mutations in the COL2A1 gene, affecting collagen production.

These mutations disrupt cartilage and bone formation, leading to severe skeletal abnormalities. The condition follows an autosomal recessive or dominant inheritance pattern, depending on the type.

What Are the Symptoms of Achondrogenesis?

The condition is characterized by severe skeletal malformations, including:

• Extremely short limbs and underdeveloped bones
• Small chest cavity – Leading to severe breathing difficulties
• Flattened facial features – Including a small jaw and depressed nasal bridge
• Large head (macrocephaly) – With soft skull bones
• Severe joint and spinal abnormalities
• Fluid accumulation (hydrops fetalis) – A life-threatening condition

How Is Achondrogenesis Diagnosed?

Diagnosis is usually made before birth through:

• Prenatal ultrasound – Detects short limbs, abnormal bone development, and small chest size
• Genetic testing – Confirms mutations in TRIP11, SLC26A2, or COL2A1 genes
• X-rays – Show severe skeletal abnormalities
• Amniocentesis or chorionic villus sampling (CVS) – For genetic analysis during pregnancy

What Are the Treatment Options for Achondrogenesis?

There is no cure or effective treatment for Achondrogenesis, and the condition is usually fatal. Management focuses on comfort care for affected newborns.

Supportive Care

• Palliative care – Provides comfort and symptom management
• Respiratory support – Helps with breathing difficulties if the baby survives birth
• Genetic counseling – For parents to understand risks in future pregnancies

Can Achondrogenesis Be Prevented?

Since it is a genetic disorder, it cannot be prevented, but genetic testing can help families understand the risks. If there is a history of Achondrogenesis, carrier screening and prenatal genetic testing can help in family planning.