Last updated:
5/7/2025
Years published: 2025
NORD gratefully acknowledges Julia J. An, MD Candidate, Icahn School of Medicine at Mount Sinai and Carlos R. Ferreira, MD, Clinical Tenure-Track Investigator, Eunice Kennedy Shriver National Institute of Child Health and Human Development, for the preparation of this report.
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Summary
Geleophysic dysplasia is a rare genetic condition that affects growth and multiple organs and systems of the body. Signs and symptoms are typically noticeable in the first year of life and may include short stature, stiff joints, heart problems and a distinctive face (described as a “happy face”).1,2
This condition is caused by changes (variants) in one of three genes and can be inherited in different ways depending on which gene is involved.
There is no cure, so treatment focuses on managing symptoms and preventing complications. About one-third of affected children die before age five, but some individuals live into adulthood.1
Introduction
The term “geleophysic” comes from the Greek words for happy (“gelios”) and nature (“physis”) which describe the “happy” facial appearance seen in most affected people.2
Geleophysic dysplasia is a rare genetic condition that affects many parts of the body, especially the skeleton, heart, lungs and joints. Most signs and symptoms appear within the first year of life.
Common features may include:1,2,3,4
Adults continue to have issues with short stature, limited joint movement, thick skin and occasional lung problems such as pulmonary hypertension.
Geleophysic dysplasia can be classified into 3 subtypes according to the gene involved.1
People with all three types of geleophysic dysplasia have similar features, such as short stature, joint stiffness and distinctive facial features.1,5,6
The clinical features of type 1 and type 2 geleophysic dysplasia are indistinguishable. To date, people described with type 3 geleophysic dysplasia have not had heart valve involvement but do have more severe lung issues. The absence of heart valve thickening and more severe lung disease may be a distinctive feature for type 3 geleophysic dysplasia but this has not been confirmed because of the very small number of people described with this condition.1
Lab tests on skin, liver, windpipe (trachea) and heart tissue have shown abnormal storage inside cells that may look like lysosomes (tiny compartments in cells that break down waste). Some people have tested positive with a special stain, suggesting a possible glycoprotein or storage disorder. These are rare conditions where certain substances like sugars attached to proteins build up in cells because the body can’t break them down properly.1
Geleophysic dysplasia is caused by changes (variants) in one of three genes:1,2
These genes help make proteins that are important for the structure of tissues throughout the body. They also control a substance called TGF-beta which helps regulate how cells grow and develop.1,3
Inheritance
Geleophysic dysplasia can be inherited in two different ways:1,2
Geleophysic dysplasia is a rare genetic disorder and about 100 cases have been reported in the medical literature as of 2024.1 It affects males and females equally.
Doctors may suspect geleophysic dysplasia based on signs and symptoms. They can establish the diagnosis in a person who has the characteristic signs and symptoms and features seen on X-rays. Diagnosis can be confirmed by genetic testing identifying variants in the ADAMTSL2, FBN1 or LTBP3 genes.1
A heart ultrasound (echocardiogram) can show the heart valve problems.
There is no cure for geleophysic dysplasia. Treatment focuses on managing symptoms and may include:1,
Growth hormone therapy is generally not effective in geleophysic dysplasia.8
Management requires a team of specialists including geneticists, cardiologists (heart specialists), orthopedists (bone specialists), pulmonologists (lung specialists), ENT (ear, nose and throat doctors) and ophthalmologists (eye specialists) that should work together as a team to care for people with geleophysic dysplasia. Regular check-ups are needed to monitor for complications.
Genetic counseling is recommended for affected individuals and their families.
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For information about clinical trials sponsored by private sources, contact:
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For information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/
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Learn more https://rarediseases.org/patient-assistance-programs/medicalert-assistance-program/Ensuring that patients and caregivers are armed with the tools they need to live their best lives while managing their rare condition is a vital part of NORD’s mission.
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