Skeletal dysplasia, also referred to as dwarfism, is the common medical term for a broad category of genetic disorders that affect normal growth of bones and joints. Abnormally formed bones in the head, spine, arms and legs are the main indicators of skeletal dysplasia. To date, there are more than 300 types of skeletal dysplasia, but the disorder only occurs approximately in one out of every 4,000 births.
To learn more about fetal diagnosis of skeletal dysplasia Click here » .
Contact Us Schedule Appointment Online
Causes of Skeletal Dysplasia
Skeletal dysplasia is caused by genetic mutations or defective genes inherited from a parent.
Skeletal dysplasia is often first diagnosed at birth, but many symptoms do not display until early childhood. Some common symptoms include:
- Short stature
- Slow growth rate
- Disproportionately large head
- Disproportionately short upper arms or thighs
- Short fingers and toes
- Joint stiffness, pain or arthritis
- Curved bones (bowlegs or scoliosis)
- Cleft palate or crowded teeth
- Developmental delays
- Mental retardation
Imaging & diagnostics
To confirm a diagnosis of skeletal dysplasia, physicians will utilize several methods:
- X-rays to identify abnormal bone structure
- Diagnostic imaging (MRI or CT scans) to examine bones more closely
- Prenatal diagnostic imaging (ultrasound) to detect shortened bones
- Pre- and postnatal genetic testing (amniocentesis)
Treatment Options for Skeletal Dysplasia
Our team of affiliated specialists reviews each individual case of skeletal dysplasia before determining the appropriate treatment plan. Several treatments are available to address any ongoing orthopedic or medical problems as a result of skeletal dysplasia.
Therapeutic treatments include:
- Growth hormone therapy
- Physical therapy to improve range of motion
- Back braces to address spine curvature or bowing
- Orthodontic treatments
Surgical treatment varies, depending on the type of skeletal dysplasia. Surgical treatment options may include one or more of the following:
- Inserting tubes in the middle ear to prevent long-term hearing loss due to recurrent ear infections
- Tracheotomy or tonsillectomy to improve breathing
- Widening the spinal canal to relieve excess pressure
- Correction of physical deformities (cleft palate, clubfoot or bowlegs)
- Draining excess fluid from the brain to relieve excess pressure
If you have any questions, use the online tool below to help us connect with you. To schedule an appointment, please contact our clinic using the information below.