Your Child’s Hypochondroplasia Care Team

Care needs to be individualized because hypochondroplasia can affect each child very differently, says Amarilis Sanchez-Valle, MD, a professor of pediatrics and the chief of the division of genetics and metabolism at the University of South Florida in Tampa.

This individualized care can be coordinated among your child’s primary clinician, geneticist, endocrinologist, orthopedist, neurologist or neurosurgeon (if needed), rehabilitation specialist, and psychosocial supports, says Joshua Yang, MD, the chief of pediatric endocrinology at Orlando Health Children's in Florida.

If you can, take your child to a multidisciplinary skeletal dysplasia center, says Reni Pekala, a cofounder and the board director of the Hypochondroplasia Foundation, based in Dublin. “These clinics bring together professionals with experience and an interest in skeletal dysplasias, making care more specialised and coordinated,” she says. Pekala also recommends including your child in decisions about their care team as they grow.

Not every child needs every specialist, says Dr. Sanchez-Valle. But as you add to their care team, they can help you figure out who your child needs to see for the best possible care.

Primary Care: Pediatrician or Family Physician

Your child’s primary care provider (usually a pediatrician) can help you build their hypochondroplasia care team, says Dr. Yang.

“The primary care physician or pediatrician is often the main point of contact for the child and family,” says Pekala. “They provide routine childhood healthcare, monitor growth and development, ask about hearing, sleep, pain, and mobility, and refer to specialists when needed.”

Because hypochondroplasia is rare, your child’s provider may not have previous experience with it, says Pekala. “What matters is that they listen to the child and family, use reliable information, and work with clinicians who understand skeletal dysplasia.”

Growth and Bone Specialists

Pediatric Endocrinologist

Pediatric Orthopedic Surgeon

Therapy and Daily Development Specialists

Physical Therapist

Occupational Therapist

ENT (Otolaryngologist) and Pulmonologist

Clinical Geneticist

• Establish or confirm the diagnosis
• Explain the genetic cause
• Provide counseling to the family
• Guide appropriate monitoring

Neurologist or Neurosurgeon

Developmental Pediatrician

Emotional and Social Support

Care Coordinator or Pediatric Social Worker

“Care coordinators and social workers can help families with appointments, insurance coverage, and special accommodations,” says Yang.

Counselor or Other Mental Health Professional

“Mental health professionals can help children and parents navigate anxiety, identity, unwanted attention, bullying, or difficult medical experiences,” says Pekala.

Remember, you know your child best, which makes you their most important advocate. If you think your child could benefit from mental health care, you can ask their pediatrician for a referral.