This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Abnormal palate morphology||
Abnormality of the palate
Abnormality of the roof of the mouth[ more ]
|Aplasia/Hypoplasia of the abdominal wall musculature||
Absent/small abdominal wall muscles
Absent/underdeveloped abdominal wall muscles[ more ]
Loss of developmental milestones
Mental deterioration in childhood[ more ]
Tiredness[ more ]
|Feeding difficulties in infancy||0008872|
Stretchable skin[ more ]
|Hypopigmentation of hair||
Loss of hair color
Bleeding within the skull
Joints move beyond expected range of motion
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference[ more ]
Low or weak muscle tone
Involuntary muscle stiffness, contraction, or spasm
Wider than typical opening or gap
|30%-79% of people have these symptoms|
|Abnormal carotid artery morphology||0005344|
|Abnormality of the metaphysis||
Abnormality of the wide portion of a long bone
Narrowing of an artery
|Atypical scarring of skin||
Psychiatric disturbances[ more ]
Formation of new noncancerous bone on top of existing bone
Increased size of cheeks
Large cheeks[ more ]
Mental retardation, nonspecific
Mental-retardation[ more ]
Lack of facial expression
Mask-like facial appearance[ more ]
Little lower jaw
Small lower jaw[ more ]
Low chest circumference
Narrow shoulders[ more ]
|Nausea and vomiting||0002017|
Prolonged yellowing of skin in newborn
Prominent back of the skull
Prominent posterior skull[ more ]
Poorly functioning veins
Extra bones within cranial sutures
|5%-29% of people have these symptoms|
|Bowing of the long bones||
Bowed long bones
Bowing of long bones[ more ]
Calcium deposits in joints
Low blood sugar
Abnormally low body temperature
|Intrauterine growth retardation||
Prenatal growth deficiency
Prenatal growth retardation[ more ]
Increased fracture rate
Multiple spontaneous fractures
Varying degree of multiple fractures[ more ]
Infection in blood stream
Fused ankle bones
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of the face||
Facial abnormality[ more ]
Short and broad skull
Loose and inelastic skin
|Death in childhood||0003819|
Decreased muscle tone
Low muscle tone[ more ]
|Hypopigmentation of the skin||
Patchy lightened skin
Loosejointedness[ more ]
Broad wide portion of long bone
Decreased body height
Small stature[ more ]
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes Ehlers-Danlos syndrome, Marfan syndrome, cutis laxa, mitochondrial disorders, osteogenesis imperfecta (see these terms) and child abuse.
Visit the Orphanet disease page for more information.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.