Overview
Metaphyseal dysplasia without hypotrichosis is an extremely rare inherited bone disorder that primarily affects the growing ends (metaphyses) of long bones. The name distinguishes it from a related condition called metaphyseal dysplasia with hypotrichosis (McKusick type or cartilage-hair hypoplasia), because in this form, patients do not have the thin or sparse hair (hypotrichosis) that is seen in the related condition. The condition affects how bones grow and develop during childhood, leading to abnormalities visible on X-rays at the metaphyses — the flared portions of long bones near the growth plates. Patients may experience short stature, bowing of the legs, a waddling gait, and joint problems. The severity can vary from mild skeletal changes found incidentally on X-rays to more noticeable limb shortening and deformity. Because this condition is so rare, the treatment landscape is limited and primarily supportive. There is no cure, and management focuses on orthopedic care, physical therapy, and monitoring growth. Surgical correction may be considered for significant limb deformities. Regular follow-up with specialists is important to track bone development and address complications as they arise.
Key symptoms:
Short statureBowing of the legsWaddling gaitWidened or irregular ends of long bones on X-rayJoint stiffness or limited range of motionLimb shorteningKnock knees or bow legsMild to moderate skeletal deformityNormal hair growth (distinguishing it from related conditions)Possible mild joint pain
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Metaphyseal dysplasia without hypotrichosis.
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Specialists
View all specialists →No specialists are currently listed for Metaphyseal dysplasia without hypotrichosis.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Metaphyseal dysplasia without hypotrichosis.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my child's bone involvement, and what changes should I watch for?,Will my child need surgery for leg bowing or other bone deformities?,How will this condition affect my child's final adult height?,Should we pursue genetic testing, and what would the results mean for our family?,What physical activities are safe, and are there any that should be avoided?,How often should we schedule follow-up X-rays and orthopedic visits?,Is there a risk that other family members could be affected?
Common questions about Metaphyseal dysplasia without hypotrichosis
What is Metaphyseal dysplasia without hypotrichosis?
Metaphyseal dysplasia without hypotrichosis is an extremely rare inherited bone disorder that primarily affects the growing ends (metaphyses) of long bones. The name distinguishes it from a related condition called metaphyseal dysplasia with hypotrichosis (McKusick type or cartilage-hair hypoplasia), because in this form, patients do not have the thin or sparse hair (hypotrichosis) that is seen in the related condition. The condition affects how bones grow and develop during childhood, leading to abnormalities visible on X-rays at the metaphyses — the flared portions of long bones near the gro
How is Metaphyseal dysplasia without hypotrichosis inherited?
Metaphyseal dysplasia without hypotrichosis follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Metaphyseal dysplasia without hypotrichosis typically begin?
Typical onset of Metaphyseal dysplasia without hypotrichosis is childhood. Age of onset can vary across affected individuals.