Orpha Number: 2215
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 mandible |
Abnormality of the lower jaw bone
|
0000277 |
| Arthrogryposis multiplex congenita | 0002804 | |
| Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
| 0005988 | ||
| Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ]
|
0000324 |
| Long philtrum | 0000343 | |
| Mask-like facies |
Expressionless face
Lack of facial expression
Mask-like facial appearance
[ more ]
|
0000298 |
| Metatarsus adductus |
Front half of foot turns inward
|
0001840 |
| Plagiocephaly |
Flat head syndrome
Flattening of skull
Rhomboid shaped skull
[ more ]
|
0001357 |
| Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
| Prominent metopic ridge | 0005487 | |
| 0002650 | ||
| Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ]
|
0003202 |
| Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
| Tapered finger |
Tapered fingertips
Tapering fingers
[ more ]
|
0001182 |
| Ulnar deviation of finger |
Finger bends toward pinky
|
0009465 |
| Webbed neck |
Neck webbing
|
0000465 |
| 30%-79% of people have these symptoms | ||
| Abnormal aldolase level | 0012400 | |
| Abnormal circulating creatine kinase concentration |
Abnormal levels of creatine kinase in blood
|
0040081 |
| Abnormal lactate dehydrogenase level | 0045040 | |
| Amniotic constriction ring | 0009775 | |
| Arachnodactyly |
Long slender fingers
Spider fingers
[ more ]
|
0001166 |
|
Cleft roof of mouth
|
0000175 | |
| Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ]
|
0000405 |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ]
|
0002714 |
| Hypotelorism |
Abnormally close eyes
Closely spaced eyes
[ more ]
|
0000601 |
| Long palm | 0011302 | |
| Malignant hyperthermia | 0002047 | |
| Narrow mouth |
Small mouth
|
0000160 |
| Nasal speech |
Nasal voice
|
0001611 |
| Pectus excavatum |
Funnel chest
|
0000767 |
| Prominence of the zygomatic bone |
Prominence of cheekbone
Pronounced cheekbone
[ more ]
|
0012370 |
| Prominent nasal bridge |
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ]
|
0000426 |
|
Drooping upper eyelid
|
0000508 | |
| Scrotal hypoplasia |
Smaller than typical growth of scrotum
|
0000046 |
| Severe |
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ]
|
0003510 |
| Wide intermamillary distance |
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ]
|
0006610 |
| 5%-29% of people have these symptoms | ||
| Abnormality of the ribs |
Rib abnormalities
|
0000772 |
| Advanced eruption of teeth |
Early eruption of teeth
|
0006288 |
| Broad alveolar ridges | 0000187 | |
| Capillary hemangioma |
Strawberry birthmark
|
0005306 |
| Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ]
|
0000268 |
| Dyspnea |
Trouble breathing
|
0002094 |
| Exaggerated cupid's bow |
Cupid bow upper lip
Cupid-bow shaped upper lip
Prominent cupid-bow of upper lip
[ more ]
|
0002263 |
| Finger |
0006101 | |
| Fingernail dysplasia |
Abnormal fingernail development
|
0100798 |
| Full cheeks |
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ]
|
0000293 |
| Hemiatrophy |
Asymmetric limb shortening
|
0100556 |
| Hyperconvex fingernails | 0001812 | |
| Hypoplastic fingernail |
Small fingernail
Underdeveloped fingernail
[ more ]
|
0001804 |
| Inguinal hernia | 0000023 | |
| Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
| Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
| Muscular |
Low or weak muscle tone
|
0001252 |
| Naevus flammeus of the eyelid |
Port-wine stain on eyelid
|
0010733 |
| Onychogryposis of fingernail |
Overgrowth and curving of fingernail
|
0040036 |
| Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
| Prenatal movement abnormality | 0001557 | |
| Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
| Ridged fingernail |
Longitudinally grooved fingernails
|
0008402 |
| Sloping forehead |
Inclined forehead
Receding forehead
[ more ]
|
0000340 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
| Natal tooth |
Born with teeth
Teeth present at birth
[ more ]
|
0000695 |
| Torticollis |
Wry neck
|
0000473 |
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your 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.
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.
