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 | ||
| Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
| Biparietal narrowing | 0004422 | |
| Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ]
|
0005280 |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
| Female pseudohermaphroditism | 0010458 | |
| Gingival overgrowth |
Gum enlargement
|
0000212 |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| Hypoplasia of the ear cartilage |
Underdeveloped ear cartilage
|
0100720 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Long philtrum | 0000343 | |
| Low-set, posteriorly rotated ears | 0000368 | |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Short neck |
Decreased length of neck
|
0000470 |
| Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
| Smooth philtrum | 0000319 | |
| Trigonocephaly |
Triangular skull shape
Wedge shaped skull
[ more ]
|
0000243 |
| Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
| 30%-79% of people have these symptoms | ||
| Abnormality of cardiovascular system morphology | 0030680 | |
| Abnormality of |
0010978 | |
| Abnormality of the anus | 0004378 | |
| Accessory oral frenulum | 0000191 | |
| Bilateral single transverse palmar creases | 0007598 | |
| Dislocated radial head | 0003083 | |
| Failure to thrive in infancy |
Faltering weight in infancy
Weight faltering in infancy
[ more ]
|
0001531 |
| Limitation of joint mobility |
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ]
|
0001376 |
| Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
| Midline facial capillary hemangioma | 0007601 | |
| Muscular |
Low or weak muscle tone
|
0001252 |
| Pectus excavatum |
Funnel chest
|
0000767 |
| Redundant skin |
Loose redundant skin
Redundant skin folds
Sagging, redundant skin
[ more ]
|
0001582 |
| Sacral dimple |
Spinal dimple
|
0000960 |
| 0001250 | ||
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Talipes | 0001883 | |
| Thin vermilion border |
Decreased volume of lip
Thin lips
[ more ]
|
0000233 |
| 5%-29% of people have these symptoms | ||
| Abnormal hair pattern |
Abnormal distribution of hair
|
0010720 |
| Aplasia/Hypoplasia of the abdominal wall musculature |
Absent/small abdominal wall muscles
Absent/underdeveloped abdominal wall muscles
[ more ]
|
0010318 |
| Aplasia/Hypoplasia of the |
0007370 | |
|
Cleft roof of mouth
|
0000175 | |
| 0000776 | ||
| Constipation | 0002019 | |
| Death in infancy |
Infantile death
Lethal in infancy
[ more ]
|
0001522 |
| Hand |
Extra finger
|
0001161 |
| Horseshoe kidney |
Horseshoe kidneys
|
0000085 |
| Multicystic kidney dysplasia | 0000003 | |
| Omphalocele | 0001539 | |
| Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
| Renal hypoplasia/aplasia |
Absent/small kidney
Absent/underdeveloped kidney
[ more ]
|
0008678 |
| Toe |
Fused toes
Webbed toes
[ more ]
|
0001770 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000006 | ||
| 0000007 | ||
| Clinodactyly |
Permanent curving of the finger
|
0030084 |
| Clitoral hypertrophy |
Enlarged clitoris
|
0008665 |
| Cutis laxa |
Loose and inelastic skin
|
0000973 |
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
| Fused sternal ossification centers | 0006643 | |
| Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Global |
0001263 | |
| Hepatomegaly |
Enlarged liver
|
0002240 |
| Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ]
|
0002827 |
| Limb undergrowth |
limb shortening
Short limb
Short limbs
[ more ]
|
0009826 |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Patent ductus arteriosus | 0001643 | |
| Postaxial foot polydactyly |
Extra toe attached near the little toe
|
0001830 |
| Postaxial hand polydactyly |
Extra little finger
Extra pinkie finger
Extra pinky finger
[ more ]
|
0001162 |
| Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
| Psychomotor retardation | 0025356 | |
| Radial deviation of finger | 0009466 | |
| Renal cortical cysts | 0000803 | |
| 0002650 | ||
| Short metacarpal |
Shortened long bone of hand
|
0010049 |
| Thick anterior alveolar ridges | 0009100 | |
| Ulnar deviation of finger |
Finger bends toward pinky
|
0009465 |
| Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
| Wide mouth |
Broad mouth
Large mouth
[ more ]
|
0000154 |
| Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ]
|
0000431 |
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.
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.
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.
