Overview
Metaphyseal acroscyphodysplasia is an extremely rare skeletal disorder that affects bone growth, particularly at the metaphyses — the wide portions near the ends of long bones. The name comes from the Greek word 'scyphos' meaning cup, because the metaphyses develop a distinctive cup-shaped or concave appearance on X-rays. This condition primarily impacts the growth plates of bones in the arms and legs, leading to short stature and limb abnormalities. Children with this condition typically show signs of short stature early in life, with disproportionately short limbs. The hands and feet may also be affected, with short fingers and toes. X-rays reveal characteristic changes at the metaphyses of the long bones, including irregular, widened, and cup-shaped deformities. Some patients may also have mild facial features such as a flat nasal bridge. Because this disease is so rare, with only a handful of cases described in the medical literature, treatment options are limited to supportive and symptomatic care. There is no cure or specific therapy available. Management focuses on orthopedic monitoring, physical therapy to maintain mobility, and addressing any complications that arise from the skeletal abnormalities. Growth hormone therapy has been considered in some cases but its effectiveness for this specific condition is not well established.
Also known as:
Key symptoms:
Short statureDisproportionately short arms and legsShort fingers and toesCup-shaped changes at the ends of long bones seen on X-rayWidened and irregular growth platesBowing of the legsLimited range of motion in jointsFlat nasal bridgeWaddling gaitDelayed bone age on X-ray
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Metaphyseal acroscyphodysplasia.
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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 acroscyphodysplasia.
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 are the skeletal changes in my child, and what can we expect as they grow?,Should we consider growth hormone therapy, and is there any evidence it would help?,How often should we get X-rays or other imaging to monitor bone development?,Are there any physical activities my child should avoid to protect their joints?,Should we pursue genetic testing to confirm the diagnosis or rule out other conditions?,What specialists should be part of our care team?,Are there any clinical trials or research studies we could participate in?
Common questions about Metaphyseal acroscyphodysplasia
What is Metaphyseal acroscyphodysplasia?
Metaphyseal acroscyphodysplasia is an extremely rare skeletal disorder that affects bone growth, particularly at the metaphyses — the wide portions near the ends of long bones. The name comes from the Greek word 'scyphos' meaning cup, because the metaphyses develop a distinctive cup-shaped or concave appearance on X-rays. This condition primarily impacts the growth plates of bones in the arms and legs, leading to short stature and limb abnormalities. Children with this condition typically show signs of short stature early in life, with disproportionately short limbs. The hands and feet may al
How is Metaphyseal acroscyphodysplasia inherited?
Metaphyseal acroscyphodysplasia follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Metaphyseal acroscyphodysplasia typically begin?
Typical onset of Metaphyseal acroscyphodysplasia is childhood. Age of onset can vary across affected individuals.
Which specialists treat Metaphyseal acroscyphodysplasia?
2 specialists and care centers treating Metaphyseal acroscyphodysplasia are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.