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 |
---|---|---|
1%-4% of people have these symptoms | ||
Darkened and thickened skin
|
0000956 | |
Arrhythmia |
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ]
|
0011675 |
Arthralgia |
Joint pain
|
0002829 |
Basal ganglia calcification | 0002135 | |
Bone pain | 0002653 | |
Childhood onset |
Symptoms begin in childhood
|
0011463 |
Chronic constipation |
Infrequent bowel movements
|
0012450 |
Conjunctivitis |
Pink eye
|
0000509 |
Death in adolescence | 0011421 | |
Decreased HDL cholesterol concentration |
Decreased circulating high-density lipoprotein cholesterol
Decreased HDL cholesterol
Low HDL-cholesterol
[ more ]
|
0003233 |
Elevated C-reactive |
0011227 | |
Elevated |
High ESR
|
0003565 |
Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
Epididymitis | 0000031 | |
Episcleritis |
Inflammation of the thin layer on top of the white part of eye
|
0100534 |
Erythema nodosum | 0012219 | |
Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
Finger swelling | 0025131 | |
Flexion |
0012785 | |
Enlarged male breast
|
0000771 | |
Hallux valgus |
Bunion
|
0001822 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Hypertrichosis | 0000998 | |
Hypertriglyceridemia |
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides
[ more ]
|
0002155 |
Hypoplastic scapulae |
Small shoulder blade
|
0000882 |
Increased circulating IgA level | 0003261 | |
Increased circulating IgG level | 0003237 | |
Increased circulating interleukin 6 | 0030783 | |
Increased circulating interleukin 8 | 0033178 | |
Increased serum |
0030356 | |
Increased thyroid-stimulating |
0002925 | |
Infantile onset |
Onset in first year of life
Onset in infancy
[ more ]
|
0003593 |
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
|
0001256 | |
Irregular menstruation |
Menstrual irregularity
|
0000858 |
Lipodystrophy |
Inability to make and keep healthy fat tissue
|
0009125 |
Lymphadenopathy |
Swollen lymph nodes
|
0002716 |
Macroglossia |
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ]
|
0000158 |
Microcytic |
0001935 | |
Parotitis | 0011850 | |
Premature graying of hair |
Early graying
Premature graying
Premature greying
Premature hair graying
[ more ]
|
0002216 |
Progeroid facial appearance |
Premature aged appearance
|
0005328 |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
Protuberant abdomen |
Belly sticks out
Extended belly
[ more ]
|
0001538 |
Punctate opacification of the cornea | 0007856 | |
Recurrent fever |
Episodic fever
Increased body temperature, episodic
Intermittent fever
[ more ]
|
0001954 |
Recurrent otitis media |
Recurrent middle ear infection
|
0000403 |
Recurrent sinusitis | 0011108 | |
Reduced tendon reflexes | 0001315 | |
0001250 | ||
Decreased body height
Small stature
[ more ]
|
0004322 | |
Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ]
|
0003202 |
Skin plaque | 0200035 | |
Sparse axillary hair |
Limited armpit hair
Little underarm hair
[ more ]
|
0002215 |
Splenomegaly |
Increased spleen size
|
0001744 |
Low platelet count
|
0001873 | |
Percent of people who have these symptoms is not available through HPO | ||
Adipose |
Loss of fat tissue
|
0008887 |
0000007 | ||
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
Cardiomegaly |
Enlarged heart
Increased heart size
[ more ]
|
0001640 |
Clubbing of fingers |
Clubbed fingers
Clubbing (hands)
Finger clubbing
[ more ]
|
0100759 |
Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ]
|
0001635 |
Elbow flexion contracture |
Contractures of elbows
Elbow contracture
Elbow contractures
[ more ]
|
0002987 |
Erythema | 0010783 | |
Flexion contracture of toe | 0005830 | |
Growth abnormality |
Abnormal growth
Growth issue
[ more ]
|
0001507 |
Hyperpigmentation of the skin |
Patchy darkened skin
|
0000953 |
Impaired glucose tolerance | 0040270 | |
Long fingers | 0100807 | |
Loss of facial adipose tissue |
Decreased amount of facial fat
Loss of facial fat
[ more ]
|
0000292 |
Macrotia |
Large ears
|
0000400 |
Muscle weakness |
Muscular weakness
|
0001324 |
Panniculitis |
Inflammation of fat tissue
|
0012490 |
Prominent nose |
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ]
|
0000448 |
Stiff skin | 0030053 | |
Thick lower lip vermilion |
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ]
|
0000179 |
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.
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.