What is skeletal dysplasia?
A skeletal dysplasia is a problem with the way bones grow and develop. There are more than 200 types of skeletal dysplasia, affecting 1 in 4,000 births.
The most common types of skeletal dysplasia are achondroplasia, achondrogenesis, tantophoric dysplasia, and osteogenesis imperfecta.
Symptoms of skeletal dysplasia include:
- Short arms and legs
- Short fingers
- A disproportionately large head
- Limited mobility at the elbows
- Short neck
- Short overall stature
Each type of skeletal dysplasia is characterized by a different set of abnormalities.
Prognosis of the condition
In some cases, skeletal dysplasia causes very abnormal bone growth. This prevents the chest and lungs from developing properly, and infants with this condition cannot survive. This condition is known as lethal skeletal dysplasia and occurs in about 1 in 10,000 births.
Non-lethal skeletal dysplasia is a term applied to infants who survive birth and immediately thereafter. Among those with nonlethal skeletal dysplasia, achondroplasia is the most common diagnosis and is often referred to as dwarfism.
In some cases, skeletal dysplasia causes very abnormal bone growth.
How is skeletal dysplasia diagnosed?
Some types of skeletal dysplasia are noticed around 20 weeks of pregnancy during an ultrasound, but other types may not be evident until early childhood. Even when skeletal dysplasia is detected during pregnancy, it can be difficult to diagnose the exact type until after birth.
If skeletal dysplasia is detected during pregnancy, your doctor may consider other tests, such as a computed tomography (CT) scan, in consultation with radiologists and obstetricians.
If you have a young child and have just begun to notice problems with growth, the diagnosis may involve:
- A growth nurse specialist taking action.
- Tests such as x-rays or blood tests
- An evaluation of any other medical conditions your child has experienced.
What causes skeletal dysplasia?
Skeletal dysplasia is usually a genetic condition involving a gene mutation. Most children with skeletal dysplasia do not have parents with the condition.
Treatments for skeletal dysplasia
Skeletal dysplasia can cause a wide range of developmental problems. As a result, the team involved in your child’s care is likely to be diverse and may include:
- Orthopedic surgeons
- Geneticists
- Cardiologists
- Otolaryngologists
- Ophthalmologists
- Neurologists
- Endocrinologists
- Occupational Therapists
Treatment may include:
- Surgery to correct the spine, widen the spinal canal, correct the direction the bones grow, or lengthen the limbs.
- Inserting a shunt to drain excess fluid from the brain
- Physical therapy to strengthen muscles and increase the child’s range of motion
- Occupational therapy to recommend assistive equipment and provide advice on alternative ways to carry out daily tasks
- Counseling and psychological support