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 autonomic nervous system physiology||0012332|
|Abnormality of vision||
Abnormality of sight
Vision issue[ more ]
|Camptodactyly of finger||
Permanent flexion of the finger
Increased body temperature, episodic
Intermittent fever[ more ]
|Feeding difficulties in infancy||0008872|
Sweating, increased[ more ]
Decreased ability to sweat
Sweating, decreased[ more ]
Broad wide portion of long bone
Smaller or shorter than typical limbs
Pins and needles feeling
Tingling[ more ]
Decreased body height
Small stature[ more ]
|Thickened cortex of long bones||0000935|
|30%-79% of people have these symptoms|
Contractures of elbows
Elbow contractures[ more ]
|Impaired pain sensation||
Decreased pain sensation
|Intrauterine growth retardation||
Prenatal growth deficiency
Prenatal growth retardation[ more ]
|Knee flexion contracture||0006380|
Abnormality of tear production
Low levels of amniotic fluid
Increased fracture rate
Multiple spontaneous fractures
Varying degree of multiple fractures[ more ]
Difficulty breathing[ more ]
Abnormal curving of the spine
Smooth surface of tongue
Clubfoot[ more ]
|5%-29% of people have these symptoms|
|Abnormality of the dentition||
Dental abnormality[ more ]
|Absent patellar reflexes||
Absent knee jerk reflex
|Decreased corneal reflex||0008000|
Abnormal thryoid location
Low or weak muscle tone
|Percent of people who have these symptoms is not available through HPO|
|Abnormal metaphyseal trabeculation||0005089|
|Abnormality of dental enamel||
Abnormal tooth enamel
Enamel abnormality[ more ]
Inward turned thumb
|Blotching pigmentation of the skin||0007610|
|Contracture of the proximal interphalangeal joint of the 5th finger||0009185|
Swallowing difficulty[ more ]
Poor feeding[ more ]
Flared wide portion of long bone
|Flexion contracture of toe||0005830|
Decreased muscle tone
Low muscle tone[ more ]
Husky voice[ more ]
|Hypoplastic iliac body||0008824|
Low set ears
Lowset ears[ more ]
Little lower jaw
Small lower jaw[ more ]
Decreased size of midface
Underdevelopment of midface[ more ]
|Opacification of the corneal stroma||0007759|
Increased blood pressure in blood vessels of lungs
|Pulmonary arterial medial hypertrophy||0004964|
Underdeveloped lung[ more ]
Tightly closed lips
Decreased length of neck
Decreased length of nose
Shortened nose[ more ]
|Short palpebral fissure||
Short opening between the eyelids
|Short phalanx of finger||
Short finger bones
Short skankbone[ more ]
|Single transverse palmar crease||0000954|
Square facial shape
Bowed shinbone[ more ]
|Ulnar deviation of finger||
Finger bends toward pinky
|Wide nasal base||
Broad base of nose
Broad nasal base
Increased width of base of nose
Increased width of nasal base
Wide base of nose[ 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.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your 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
Differential diagnosis includes Crisponi syndrome (cold-induced sweating syndrome) and other skeletal dysplasias, such as Ehlers-Danlos syndrome type IX, Campomelic dysplasia and autosomal dominant Larsen syndrome (see these terms).
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.
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.