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 | ||
| Biparietal narrowing | 0004422 | |
| Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
|
Cleft roof of mouth
|
0000175 | |
| Convex nasal ridge |
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity
[ more ]
|
0000444 |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
| Feeding difficulties |
Feeding problems
Poor feeding
[ more ]
|
0011968 |
| Full cheeks |
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ]
|
0000293 |
| Global |
0001263 | |
|
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ]
|
0010864 | |
| Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
| Limitation of joint mobility |
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ]
|
0001376 |
| Low anterior hairline |
Low frontal hairline
Low-set frontal hairline
[ more ]
|
0000294 |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Nevus flammeus of the forehead |
Port-wine stain on forehead
|
0007413 |
| Prominent metopic ridge | 0005487 | |
| Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
| Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ]
|
0000278 |
| Thick hair |
Increased hair density
|
0100874 |
| Trigonocephaly |
Triangular skull shape
Wedge shaped skull
[ more ]
|
0000243 |
| Ulnar deviation of finger |
Finger bends toward pinky
|
0009465 |
| Underdeveloped supraorbital ridges |
Flattened bony protrusion above eyes
|
0009891 |
| Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
| 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 |
| 30%-79% of people have these symptoms | ||
| Abnormal anterior chamber morphology | 0000593 | |
| Abnormality of cardiovascular system morphology | 0030680 | |
| Abnormality of the pancreas | 0001732 | |
| Accessory oral frenulum | 0000191 | |
| Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
| Cleft upper lip |
Harelip
|
0000204 |
| Death in infancy |
Infantile death
Lethal in infancy
[ more ]
|
0001522 |
| Elbow dislocation |
Dislocations of the elbows
Elbow dislocations
[ more ]
|
0003042 |
| Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ]
|
0002020 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
| Intestinal malrotation | 0002566 | |
| Narrow chest |
Low chest circumference
Narrow shoulders
[ more ]
|
0000774 |
| Platyspondyly |
Flattened vertebrae
|
0000926 |
| Retinopathy |
Noninflammatory retina disease
|
0000488 |
| 0001250 | ||
| Short thorax |
Shorter than typical length between neck and abdomen
|
0010306 |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Supernumerary nipple |
Accessory nipple
|
0002558 |
| Synophrys |
Monobrow
Unibrow
[ more ]
|
0000664 |
| Wide intermamillary distance |
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ]
|
0006610 |
| 5%-29% of people have these symptoms | ||
| Abnormality of the kidney |
Abnormal kidney
|
0000077 |
| Dandy-Walker malformation | 0001305 | |
| Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
| Inguinal hernia | 0000023 | |
| Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
|
0000545 |
| Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
| Short foot |
Short feet
Small feet
[ more ]
|
0001773 |
| Talipes | 0001883 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of the optic nerve |
Optic nerve issue
|
0000587 |
| Agenesis of corpus callosum | 0001274 | |
| Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ]
|
0001631 |
| 0000006 | ||
| 0000007 | ||
| Broad alveolar ridges | 0000187 | |
| Broad palm |
Broad hand
Broad hands
Wide palm
[ more ]
|
0001169 |
| Camptodactyly |
Permanent flexion of the finger or toe
|
0012385 |
| Deep palmar crease |
Deep palm line
|
0006191 |
| Deep plantar creases |
Deep wrinkles in soles of feet
|
0001869 |
| Delayed peripheral myelination | 0011401 | |
| Dislocated radial head | 0003083 | |
| Facial hemangioma | 0000329 | |
| Generalized |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Gray matter heterotopia | 0002282 | |
| Hirsutism |
Excessive hairiness
|
0001007 |
| Hyperechogenic pancreas | 0006276 | |
| Hypoplasia of the brainstem |
Small brainstem
Underdeveloped brainstem
[ more ]
|
0002365 |
| Intellectual disability, profound |
IQ less than 20
|
0002187 |
| Joint dislocation |
Joint dislocations
Recurrent joint dislocations
[ more ]
|
0001373 |
| Long face |
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ]
|
0000276 |
| Mesomelic/rhizomelic limb shortening | 0005026 | |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
| Narrow forehead |
Decreased width of the forehead
|
0000341 |
| Narrow palate |
Narrow roof of mouth
|
0000189 |
| Nevus flammeus |
port-wine stain
|
0001052 |
| Overlapping toe |
Overlapping toes
Overriding toes
[ more ]
|
0001845 |
| Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
| Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ]
|
0011220 |
| Sacral dimple |
Spinal dimple
|
0000960 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Short toe |
Short toes
Stubby toes
[ more ]
|
0001831 |
|
Webbed fingers or toes
|
0001159 | |
| Tapered finger |
Tapered fingertips
Tapering fingers
[ more ]
|
0001182 |
| Ulnar deviation of the wrist | 0003049 | |
| Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
| Vesicoureteral reflux | 0000076 | |
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.
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.
