Cartilage Hair Hypoplasia

Nemours is world-renowned for skeletal dysplasia diagnosis and treatment. We strive to maximize children’s mobility, correct deformity, and prevent future complications. If your child’s been diagnosed with cartilage hair hypoplasia (a type of skeletal dysplasia), we’re here to ease your concerns, answer your questions, and give your child the best possible chance for a healthy future.

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Nemours Children's Hospital, Orlando

6535 Nemours Parkway
Orlando, FL 32827
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For Appointments: (407) 650-7715
Hours: Monday–Friday, 8 a.m. to 5 p.m.

What to Bring
  • photo ID
  • medical and pharmacy insurance cards
  • preferred pharmacy name and phone number
  • names and dosage of all medications, including over-the-counter medication, your child is currently taking
  • guardianship and custody papers, if a legal guardian rather than a parent accompanies your child
New Patients

Bring these forms for your first appointment:

Returning Patients
  • Patient Presents Without Legal Guardian (PDF)
    English | Spanish
    Note: A parent or legal guardian must be with a child for a first visit.
Forms & Resources
New Patient Forms
Returning Patient Forms
  • Patient Presents Without Legal Guardian (PDF)
    English | Spanish
    Note: A parent or legal guardian must be with a child for a first visit.
Resources for Patients & Families

Renowned pediatric orthopedists and geneticists at Nemours Children’s Hospital in Orlando provide comprehensive care for children with cartilage hair dysplasia (CHC, also called metapyseal dysplasia, McKusick type), a form of skeletal dysplasia with developmental differences that causes short stature (dwarfism), short limbs, bowed (or bent) limbs, spinal curvature (scoliosis) and fine, sparse hair. It also affects immunity.

At Nemours, our goal is to help children with all forms of skeletal dysplasia, including cartilage hair dysplasia, achieve the highest level of mobility, function and health possible. Here, you’ll find doctors, surgeons, counselors, nurses and staff who are uniquely qualified and share a strong commitment to your child’s long-term health and wellness. As a team, we work together to manage the physical, emotional and social complexities that come with this condition, and to provide maximum ability and freedom as your child grows and develops.

Learn More About Skeletal Dysplasia Care at Nemours Children’s Hospital »

Expert Care For Children With Cartilage Hair Dysplasia in Central Florida

Cartilage hair dysplasia is a rare condition and only a handful of hospitals in the country treat children with CHH. At Nemours Children’s Hospital, we evaluate children with all types of skeletal dysplasia, including cartilage hair dysplasia, from both a genetic and orthopedic perspective.

Causes of Cartilage Hair Dysplasia

Cartilage hair dysplasia is caused by changes (mutations) in a gene called RMRP that is related to several important processes in the cell. The mutation affects cartilage development and is inherited when both parents are carriers of the mutated gene and pass them on to their child.

Cartilage Hair Dysplasia Symptoms

Cartilage hair dysplasia is prevalent in Amish and Finnish populations. The condition impacts cartilage development near the ends of the long bones, which in turn, affects bone development. In addition to sparse hair, short limbs, short stature and scoliosis, symptoms may also include short and thick hands and feet and possible ankle deformity.

Children with cartilage hair dysplasia may also have anemia (low iron) and mild or severe immune system problems that can lead to recurrent infections.

Learn More About Cartilage Hair Dysplasia and Related Children’s Health Topics From Nemours’ »

Evaluating Cartilage Hair Dysplasia in Infants and Children

Your child’s evaluation for cartilage hair dysplasia at Nemours Children’s Hospital will begin with a diagnostic appointment with one of our pediatric orthopedic experts in skeletal dysplasias. We can often make a diagnosis in our initial evaluation, but, depending on your child’s condition, we may recommend additional diagnostic testing and further evaluation with a geneticist.

Your Child’s First Visit: What to Expect

Because of the complexity involved in making a firm diagnosis in some types of skeletal dysplasias, including cartilage hair dysplasia, a great deal of information is collected at the initial visit, so it may take an hour or two to complete. During your visit, we’ll:

  • obtain your child’s medical history and a three-generation family medical history
  • review your child’s medical records and previously obtained X-rays
  • perform a physical examination, including detailed measurements of your child’s joint motions (how much each joint can move) and the lengths of arm and leg bones
If Your Child Needs Additional Diagnostic Tests

At Nemours Children’s Hospital we provide advanced testing to help us diagnose cartilage hair dysplasia and develop an effective treatment plan based on your child’s specific needs. Tests may include:

  • imaging: X-ray, ultrasound, CT (computed tomography) and MRI (magnetic resonance imaging)
  • biochemical tests: determine levels of critical proteins in a sample of blood, urine or other fluid or tissue
  • molecular tests: determine a child’s genetic makeup and confirm the clinical diagnosis

Treating Cartilage Hair Dysplasia

Skeletal dysplasias, including cartilage hair dysplasia, are often associated with complex medical and surgical needs. At Nemours, we have an experienced team of health professionals in more than 30 major specialties and well-equipped facilities to provide ongoing multispecialty care with convenience and continuity.

While there is no cure or simple treatment for cartilage hair dysplasia, in some cases surgical procedures and therapies can improve mobility and relieve (and prevent) related complications. We’ll work with your family to help you understand the available treatment options.

Learn More About Limb Lengthening and Reconstruction »

Your Child’s Coordinated Cartilage Hair Dysplasia Care

The needs of a child with cartilage hair dysplasia change over time, that’s why your child’s care team is here to anticipate and correct problems along the way. For your convenience, we typically schedule follow-up genetics appointments at six-month intervals until your child is six years old and then move to annual appointments.

Orthopedics appointments are scheduled based on the most recent evaluation, as are other specialist appointments when needed. We understand that arranging travel and managing multiple appointments can be difficult, so we’ll work with you to schedule appointments all on one day. What’s more, some of the very same pediatric specialists your child sees at Nemours Children’s Hospital also provide convenient appointments at our specialty care location in downtown Orlando.

Learn More About Orthopedic Care »
Learn More About How We Treat Genetic Disorders »

Coping & Support for the Entire Family

To help make the experience as comfortable as possible, we also provide emotional and psychosocial support and many other services for your child and family, including:

Learn More About the Support Services and Amenities at Nemours Children’s Hospital »