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Skeletal Dysplasia in Children

Graphic of a physician referring to an image of skeletal dysplasia

A diagnosis of skeletal dysplasia for your child can be overwhelming and confusing.

Skeletal dysplasia is the umbrella medical term for a group of about 400 conditions that affect bone development, neurological function and cartilage growth. This can be a hard diagnosis to digest at first and even then there are often more questions than answers.

What does this mean for your child? Your family? The future? 

Whether your baby has been diagnosed with a skeletal dysplasia condition in utero, at birth, or after, once you have a diagnosis, you can act on it and move forward — and we’re here to provide the world-class care and support you’re looking for. 

Use this resource to learn more about skeletal dysplasia, including treatment and the long-term outlook. 

What Is Skeletal Dysplasia?  

Skeletal dysplasias are a category of rare genetic disorders that cause abnormal development of a baby’s joints, cartilage and bones while still in utero.  

While skeletal dysplasia affects different parts of the body in different children, the areas impacted most often include their legs and arms, skull, ribcage and spine.  

Skeletal dysplasias affect how a baby’s skeletal system develops inside the womb; they’re generally the result of spontaneous or inherited genetic mutations. 

What Are the Symptoms of Skeletal Dysplasia? 

Some of the typical symptoms associated with skeletal dysplasia can include: 

  •  Long trunk, shorter arms and legs 
  •  Leg bowing, club foot 
  •  Short stature 
  •  Duplication of fingers or toes 
  •  Irregular, thickened or thin bones 
  •  Demineralization  
  •  Large head with a prominent forehead 
  •  Brittle teeth and bones 
  •  Hearing loss 
  •  Cleft palate 
  •  Vision problems

What Causes Skeletal Dysplasia?  

Skeletal dysplasias can be the result of an inherited or spontaneous genetic mutation. It can be caused by a variety of different genetic mutations, which a child inherits from their parents.  

While skeletal dysplasia does run in families, you can potentially pass the condition to biological children even if you don’t have a known family history of it.

How Is Skeletal Dysplasia Diagnosed? 

Skeletal dysplasias are often suspected before birth. Your child’s bone abnormalities and other differences listed above may be visible on a prenatal ultrasound. Once your doctor suspects a skeletal dysplasia, genetic testing can try to determine which exact condition your baby may have.  

In some scenarios, a low-dose fetal CT scan or X-ray may be recommended to help the doctor provide the most appropriate diagnosis.

Skeletal Dysplasia Types 

There are hundreds of different skeletal dysplasias that can affect your child. Some of these include: 

  • Osteogenesis imperfecta, which refers to bones that break very easily 
  • Campomelic dysplasia, which can threaten a baby’s life because of cartilage problems in the airway 
  • Thanatophoric dysplasia, which can cause very short limbs and severe breathing problems 
  • Achondroplasia, which is the most common form of dwarfism

Jon-Erik Chamberlain, 15, is a triple threat performer as he can act, dance and sing. He also has Osteogenesis Imperfecta (OI) and has been treated at Gillette throughout much of his life. 

Skeletal Dysplasia Treatment 

There are a variety of nonsurgical treatment options for your child if they’re diagnosed with skeletal dysplasia. The treatment options depend on the type of dysplasia your baby has and the effect it’s having on their body functions.  

Treatment options can include bracing, medications, growth hormone therapy and physical therapy.  

In some cases, your child may need surgery to correct deformed bones and improve their comfort and quality of life as they grow.

Long-Term Outlook for Skeletal Dysplasia 

The long-term outlook for a child born with skeletal dysplasia depends on the type of dysplasia and whether other medical problems are present.  

While nearly half of fetuses diagnosed with skeletal dysplasia are stillborn or die within the first six weeks of life, not all children with dysplasias have severe medical issues. Most skeletal dysplasias cause short stature or dwarfism.

Most children born with achondroplasia, one of the most common types of skeletal dysplasia, lead full, happy lives.  

Orthopedic Care at Gillette Children’s  

Our skeletal dysplasia experts have the experience and training to diagnose and manage even the rarest types of skeletal dysplasia.  

At Gillette Children’s, we offer families answers, management plans and the opportunity to participate in ongoing clinical research. Our care team includes complex care pediatricians, genetic counselors, nurse practitioners, pediatric orthopedists, anesthesiologists, physical therapists, neurosurgeons and others, all working together to create a personalized treatment plan for your child.  

When your family and child become a part of the Gillette family, you’ll benefit from expertise gained from more than 125 years of providing orthopedic care and pediatric orthopedic surgery. 

We’re here to answer any questions you have and we’re excited to connect with you as we work together to give your child incredible care. 

Learn more about the world-class orthopedic care at Gillette Children’s