Skeletal Dysplasias
Skeletal dysplasias, also known as osteochondrodysplasias, are a class of conditions that encompass more than 400 disorders and affect approximately 1 in every 5,000 babies. Individuals with skeletal dysplasias can have a variety of findings which may include shortened arms and/or legs, smaller chest size, and an abnormal head size and shape.
Skeletal dysplasias can be inherited, can occur due to random genetic changes, or can be due to disruptions in normal skeletal development.
Symptoms will vary depending on the specific disorder your baby has, which include:
- Short arms and legs
- Bowed legs or arms
- Fragile bones that may fracture
- Short, broad hands and feet
- Duplication of fingers or toes
- Club feet
- Missing limbs
- Missing ribs
- Joint issues
- A curvature of the spine known as “scoliosis”
- Developmental delays
- Cognitive impairment
What You Need to Know About Skeletal Dysplasias
Skeletal dysplasias are often suspected before birth. Bone abnormalities and other differences listed above may be visible on a prenatal ultrasound. Once a skeletal dysplasia is suspected, genetic testing is typically offered to try to determine which exact condition a baby may have. In some cases, a low-dose fetal CT scan or X-ray may also be recommended to help make a definitive diagnosis.
Because of the overlapping features between various skeletal dysplasias, it can often be challenging to make a specific diagnosis prenatally. In some cases, a combination of ultrasound evaluation, genetic testing, and other assessments can allow for such a diagnosis to be made before a baby is born. In other cases, the medical team may need to evaluate a baby after birth to make a specific diagnosis. It’s important that the medical team caring for a baby suspected to have a skeletal dysplasia include experts in:
- Genetics
- Neonatology
- Orthopedics
- Maternal-Fetal Medicine
The specialists at SSM Health Cardinal Glennon St. Louis Fetal Care Institute will monitor the baby throughout the pregnancy and assist families with planning for delivery and arranging for postnatal care.
Because of the complex nature of skeletal dysplasias, babies often face medical challenges during delivery and in the newborn period. It’s important for these babies to be delivered at a hospital that can meet their unique medical needs.
Every baby’s situation is different, and the Cardinal Glennon St. Louis Fetal Care Institute works with each family to prepare for their baby’s delivery and care after birth.
The delivery and care plan can include medical interventions or be restricted to comfort measures, depending on the baby’s diagnosis and prognosis and the desires of the family.
The type of skeletal dysplasia and the associated abnormalities a baby has will affect a child’s long-term prognosis. Children who do not have life-threatening or severe forms of skeletal dysplasia can usually lead relatively typical lives.
Children with skeletal dysplasias benefit from the care of a multi-disciplinary medical team, which may include providers from:
- Maternal-Fetal Medicine
- Genetics
- Neonatology
- Orthopedic Surgery
- Endocrinology
- Neurosurgery
- Otolaryngology (ENT)
- Ophthalmology
- Physical Therapy
- Occupational Therapy
Though there is no cure for skeletal dysplasia, there are a wide range of different treatment options depending on type. As your child matures, growth hormone therapy may be appropriate. Orthopedic surgery may also be necessary. Your child’s doctor may recommend other treatments and therapies to help alleviate symptoms, increase independence, and improve your baby’s quality of life.
From your first appointment to your last, our fetal and baby specialists at SSM Health are available to care for you and your baby’s complex needs. Our multidisciplinary team collaborates across our hospital to provide your baby the specialized care they require.