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 | Learn More: HPO ID |
---|---|---|
80%-99% of people have these symptoms | ||
Absence of subcutaneous fat |
Absent fat below the skin
Lack of fatty tissue below the skin
[ more ]
|
0007485 |
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ]
|
0000405 |
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
Narrow mouth |
Small mouth
|
0000160 |
Premature skin wrinkling | 0100678 | |
Prominent superficial blood vessels |
Prominent superficial vasculature
|
0007394 |
Prominent umbilicus |
Prominent belly button
Prominent navel
[ more ]
|
0001544 |
Pubertal developmental failure in females | 0008647 | |
Severe failure to thrive |
Severe faltering weight
Severe weight faltering
[ more ]
|
0001525 |
Thin vermilion border |
Decreased volume of lip
Thin lips
[ more ]
|
0000233 |
Weight loss | 0001824 | |
30%-79% of people have these symptoms | ||
Alopecia totalis | 0007418 | |
Ankyloglossia |
Tongue tied
|
0010296 |
Atherosclerosis |
Narrowing and hardening of arteries
|
0002621 |
Coxa valga | 0002673 | |
Craniofacial disproportion | 0005461 | |
Decreased serum leptin | 0003292 | |
Delayed menarche |
Delayed start of first period
|
0012569 |
Dystrophic fingernails |
Poor fingernail formation
|
0008391 |
Dystrophic toenail |
Poor toenail formation
|
0001810 |
Exertional dyspnea | 0002875 | |
Female |
0000134 | |
High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
High pitched voice | 0001620 | |
Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ]
|
0002827 |
Hypoplastic male external genitalia |
Small male external genitalia
Underdeveloped male genitalia
[ more ]
|
0000050 |
Insulin resistance |
Body fails to respond to insulin
|
0000855 |
Lack of skin elasticity | 0100679 | |
Left ventricular diastolic dysfunction | 0025168 | |
Low-frequency sensorineural hearing impairment | 0008573 | |
Narrow nasal ridge |
Decreased width of nasal ridge
Pinched nose
Thin nasal ridge
[ more ]
|
0000418 |
Narrow nasal tip |
Narrow tip of nose
Nasal tip, narrow
Nasal tip, pinched
Pinched nasal tip
Pinched tip of nose
Thin nasal tip
Thin tip of nose
[ more ]
|
0011832 |
Patchy alopecia |
Patchy baldness
|
0002232 |
Relative macrocephaly |
Relatively large head
|
0004482 |
Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ]
|
0000278 |
Shallow orbits |
Decreased depth of eye sockets
Shallow eye sockets
[ more ]
|
0000586 |
Short lingual frenulum | 0000200 | |
Shuffling gait |
Shuffled walk
|
0002362 |
5%-29% of people have these symptoms | ||
Absent eyebrow |
Failure of development of eyebrows
|
0002223 |
Aortic regurgitation | 0001659 | |
Aortic valve calcification | 0004380 | |
Aortic valve stenosis |
Narrowing of aortic valve
|
0001650 |
Avascular necrosis |
Death of bone due to decreased blood supply
|
0010885 |
Carotid artery occlusion |
Obstructed carotid artery
|
0012474 |
Convex nasal ridge |
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity
[ more ]
|
0000444 |
Corneal opacity | 0007957 | |
Cyanosis |
Blue discoloration of the skin
|
0000961 |
Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ]
|
0000684 |
Dental crowding |
Crowded teeth
Dental overcrowding
Overcrowding of teeth
[ more ]
|
0000678 |
Dermal atrophy |
Skin degeneration
|
0004334 |
High-frequency sensorineural hearing impairment | 0001757 | |
Hip pain | 0030838 | |
Hypermelanotic macule |
Hyperpigmented spots
|
0001034 |
0000822 | ||
Hypodontia |
Failure of development of between one and six teeth
|
0000668 |
Impacted tooth | 0011079 | |
Intracranial hemorrhage |
Bleeding within the skull
|
0002170 |
Joint stiffness |
Stiff joint
Stiff joints
[ more ]
|
0001387 |
Limitation of movement at ankles | 0010505 | |
Limited hip movement | 0008800 | |
Limited shoulder movement | 0006467 | |
Limited wrist movement |
Limited movement of the wrist
|
0006248 |
Loss of eyelashes |
Eyelashes fell out
Missing eyelashes
[ more ]
|
0011457 |
Mitral regurgitation | 0001653 | |
Mitral stenosis | 0001718 | |
Mitral valve calcification | 0004382 | |
Myocardial infarction |
Heart attack
|
0001658 |
Nocturnal lagophthalmos |
Eyelids stay open at night
Inability to close the eyelids at night
[ more ]
|
0030002 |
Osteoarthritis |
Degenerative joint disease
|
0002758 |
Osteolytic defects of the distal phalanges of the hand | 0009839 | |
Papule | 0200034 | |
Persistence of primary teeth |
Delayed loss of baby teeth
Failure to lose baby teeth
Retained baby teeth
[ more ]
|
0006335 |
Progressive clavicular acroosteolysis | 0000905 | |
Prominent ear helix | 0009904 | |
Raynaud phenomenon | 0030880 | |
Reduced bone mineral density |
Low solidness and mass of the bones
|
0004349 |
Short chin |
Decreased height of chin
Short lower third of face
[ more ]
|
0000331 |
Short clavicles |
Short collarbone
|
0000894 |
Transient ischemic attack |
Mini stroke
|
0002326 |
Upper airway obstruction | 0002781 | |
Ventricular hypertrophy | 0001714 | |
1%-4% of people have these symptoms | ||
Angina pectoris | 0001681 | |
Corneal ulceration | 0012804 | |
Left ventricular systolic dysfunction | 0025169 | |
Pulmonary arterial hypertension |
Increased blood pressure in blood vessels of lungs
|
0002092 |
Percent of people who have these symptoms is not available through HPO | ||
Alopecia |
Hair loss
|
0001596 |
0000006 | ||
0000007 | ||
Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ]
|
0001635 |
Generalized osteoporosis | 0040160 | |
Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ]
|
0001510 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
Osteolysis |
Breakdown of bone
|
0002797 |
Precocious atherosclerosis | 0004416 | |
Premature coronary artery atherosclerosis |
Premature coronary artery disease
|
0005181 |
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.
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.
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