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 | ||
| Abnormality of the dentition |
Abnormal dentition
Abnormal teeth
Dental abnormality
[ more ]
|
0000164 |
| Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Deep plantar creases |
Deep wrinkles in soles of feet
|
0001869 |
| Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ]
|
0002714 |
| Global |
0001263 | |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Large face |
Big face
|
0100729 |
| Low posterior hairline |
Low hairline at back of neck
|
0002162 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Redundant skin |
Loose redundant skin
Redundant skin folds
Sagging, redundant skin
[ more ]
|
0001582 |
| 30%-79% of people have these symptoms | ||
| Abnormal oral frenulum morphology | 0000190 | |
| Abnormality of the kidney |
Abnormal kidney
|
0000077 |
| 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 |
| Bilateral single transverse palmar creases | 0007598 | |
| Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
| Chronic otitis media |
Chronic infections of the middle ear
|
0000389 |
| Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
| 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 |
| Gingival overgrowth |
Gum enlargement
|
0000212 |
| Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Patellar aplasia |
Absent kneecap
|
0006443 |
| Patent ductus arteriosus | 0001643 | |
| Pectus excavatum |
Funnel chest
|
0000767 |
| Pulmonary artery stenosis |
Narrowing of lung artery
|
0004415 |
| 0002650 | ||
| Scrotal hypoplasia |
Smaller than typical growth of scrotum
|
0000046 |
| 0001250 | ||
|
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
| Tetralogy of Fallot | 0001636 | |
| Thick vermilion border |
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips
[ more ]
|
0012471 |
| Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
| 5%-29% of people have these symptoms | ||
| Abnormality of the anus | 0004378 | |
| Abnormality of vision |
Abnormality of sight
Vision issue
[ more ]
|
0000504 |
|
Cleft roof of mouth
|
0000175 | |
| Cleft upper lip |
Harelip
|
0000204 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000006 | ||
| Brachycephaly |
Short and broad skull
|
0000248 |
| Broad face |
Increased breadth of face
Increased width of face
Wide face
[ more ]
|
0000283 |
| Camptodactyly |
Permanent flexion of the finger or toe
|
0012385 |
| Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
| Delayed |
0002188 | |
| Double outlet right ventricle | 0001719 | |
| Generalized |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ]
|
0001510 |
| Hydronephrosis | 0000126 | |
| Hypertonia | 0001276 | |
| Infra-orbital crease |
Crease in skin under the eye
Groove in skin under the eye
[ more ]
|
0100876 |
| Joint |
0009473 | |
| Malar flattening |
Zygomatic flattening
|
0000272 |
| Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
| Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
| Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
| Postnatal growth retardation |
Growth delay as children
|
0008897 |
| Postnatal |
0005484 | |
| Pulmonic stenosis |
Narrowing of pulmonic valve
|
0001642 |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Thick lower lip vermilion |
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ]
|
0000179 |
| Ventriculomegaly | 0002119 | |
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.
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 diagnoses include other chromosomal anomalies involving chromosome 8, Bardet-Biedl syndrome, Williams syndrome and Noonan 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. Submit a new question
I am a carrier for recombinant chromosome 8 syndrome. Should my children have a blood test to see if they are also carriers? See answer
