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 diaphysis morphology||
Abnormal shape of shaft of long bone
|Abnormal hair morphology||
Abnormality of the hair
Hair abnormality[ more ]
|Abnormal skull morphology||
Abnormality of the skull
|Abnormality of dental morphology||
Abnormality of dental shape
Abnormally shaped teeth
Deformity of teeth
Misshapened teeth[ more ]
|Abnormality of the adrenal glands||
|Aplasia/Hypoplasia of the thymus||
Absent/underdeveloped thymus[ more ]
Short fingers or toes
|Camptodactyly of finger||
Permanent flexion of the finger
|Coarse facial features||
Coarse facial appearance
|Failure to thrive||
Weight faltering[ more ]
Poor feeding[ more ]
|Hyperpigmentation of the skin||
Patchy darkened skin
Decreased immune function
Stiff joints[ more ]
Swelling caused by excess lymph fluid under skin
Increased size of skull
Large head circumference[ more ]
Smaller or shorter than typical limbs
Low or weak muscle tone
Softening of the bones
|Recurrent bacterial infections||
Bacterial infections, recurrent
Frequent bacterial infections
Increased susceptibility to bacterial infections
Recurrent major bacterial infections[ more ]
Increased fracture rate
Multiple spontaneous fractures
Varying degree of multiple fractures[ more ]
Short stature, severe[ more ]
Decreased length of neck
Open skin sore
Fat in feces
Firm lump under the skin
Growth of abnormal tissue under the skin[ more ]
|Telangiectasia of the skin||0100585|
|30%-79% of people have these symptoms|
|Aplasia/Hypoplasia of the skin||
Absent/underdeveloped skin[ more ]
|Death in infancy||
Lethal in infancy[ more ]
|5%-29% of people have these symptoms|
|Abnormality of the gastrointestinal tract||0011024|
Breakdown of bone
|Skeletal muscle atrophy||
Muscle wasting[ more ]
|Percent of people who have these symptoms is not available through HPO|
Worsens with time
Frequent, severe infections
Increased frequency of infection
Predisposition to infections
Susceptibility to infection[ more ]
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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
Juvenile hyaline fibromatosis, Winchester syndrome, lipoid proteinosis (Urbach-Wiethe disease) and mucopolysaccharidosis type II (Hunter's syndrome) should be considered in the differential diagnosis (see these terms).
Visit the Orphanet disease page for more information.
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.
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.