Overview
Upper limb mesomelic dysplasia, type Fryns, is an extremely rare skeletal condition that primarily affects the bones of the forearms (the middle segment of the upper limbs). The term 'mesomelic' refers to the middle portion of a limb — in this case, the radius and ulna bones between the elbow and wrist. People with this condition typically have noticeably shortened forearms compared to the rest of their arms and body. This condition was first described by Fryns and colleagues, and it is distinguished from other types of mesomelic dysplasia by its specific pattern of skeletal involvement, which is largely limited to the upper limbs. The condition is present from birth, and the shortening of the forearm bones can usually be detected on prenatal ultrasound or noticed at birth. The hands may also show some abnormalities in shape or function. Because this is such a rare condition, with only a handful of cases reported in the medical literature, the full range of features is not completely understood. There is currently no cure for this condition. Treatment focuses on managing symptoms and may include orthopedic interventions, physical therapy, and adaptive devices to help with daily tasks. Genetic counseling is recommended for affected families to understand the chance of the condition occurring in future pregnancies.
Also known as:
Key symptoms:
Shortened forearmsAbnormal shape of the radius bone in the forearmAbnormal shape of the ulna bone in the forearmLimited range of motion at the elbow or wristPossible hand abnormalitiesDisproportionate upper limb lengthDifficulty with fine motor tasks involving the hands and wrists
Clinical phenotype terms (3)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Upper limb mesomelic dysplasia, type Fryns.
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Specialists
View all specialists →No specialists are currently listed for Upper limb mesomelic dysplasia, type Fryns.
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 Upper limb mesomelic dysplasia, type Fryns.
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.How severe is the bone shortening in my child's forearms, and will it change as they grow?,Are there any other bones or body systems affected?,Would limb lengthening surgery be an option, and what are the risks and benefits?,What types of physical or occupational therapy would be most helpful?,Is genetic testing available to confirm the diagnosis or identify the cause?,What is the chance of this condition occurring in future pregnancies?,Are there any clinical studies or registries we should consider joining?
Common questions about Upper limb mesomelic dysplasia, type Fryns
What is Upper limb mesomelic dysplasia, type Fryns?
Upper limb mesomelic dysplasia, type Fryns, is an extremely rare skeletal condition that primarily affects the bones of the forearms (the middle segment of the upper limbs). The term 'mesomelic' refers to the middle portion of a limb — in this case, the radius and ulna bones between the elbow and wrist. People with this condition typically have noticeably shortened forearms compared to the rest of their arms and body. This condition was first described by Fryns and colleagues, and it is distinguished from other types of mesomelic dysplasia by its specific pattern of skeletal involvement, which
How is Upper limb mesomelic dysplasia, type Fryns inherited?
Upper limb mesomelic dysplasia, type Fryns follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Upper limb mesomelic dysplasia, type Fryns typically begin?
Typical onset of Upper limb mesomelic dysplasia, type Fryns is neonatal. Age of onset can vary across affected individuals.