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 |
| Aplasia/Hypoplasia of the tongue | 0010295 | |
|
Short fingers or toes
|
0001156 | |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
| Facial palsy |
Bell's palsy
|
0010628 |
| Impaired ocular abduction | 0000634 | |
| Long philtrum | 0000343 | |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Muscular |
Low or weak muscle tone
|
0001252 |
| Pierre-Robin sequence | 0000201 | |
|
Drooping upper eyelid
|
0000508 | |
| Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
| Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ]
|
0003202 |
| Thin vermilion border |
Decreased volume of lip
Thin lips
[ more ]
|
0000233 |
| 30%-79% of people have these symptoms | ||
|
Cleft roof of mouth
|
0000175 | |
| Glossoptosis |
Retraction of the tongue
|
0000162 |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
|
Mental retardation
Mental retardation, nonspecific
Mental-retardation
Mental deficiency
[ more ]
|
0001249 | |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| 0002650 | ||
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
| 5%-29% of people have these symptoms | ||
| Aplasia of the pectoralis major muscle | 0009751 | |
| Aplasia/Hypoplasia of the cerebellum |
Absent/small cerebellum
Absent/underdeveloped cerebellum
[ more ]
|
0007360 |
| Cerebral calcification |
Abnormal deposits of calcium in the brain
|
0002514 |
| Glandular hypospadias | 0000807 | |
| Global |
0001263 | |
| Hydronephrosis | 0000126 | |
| Hypertensive crisis | 0100735 | |
| Laryngeal stenosis | 0001602 | |
| Myopathy |
Muscle tissue disease
|
0003198 |
| Ulnar deviation of finger |
Finger bends toward pinky
|
0009465 |
| Ventriculomegaly | 0002119 | |
| 1%-4% of people have these symptoms | ||
|
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
| 0000501 | ||
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormal cardiac septum morphology | 0001671 | |
| 0000007 | ||
| Broad nasal tip |
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose
[ more ]
|
0000455 |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Decreased fetal movement |
Less than 10 fetal movements in 12 hours
|
0001558 |
| 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 |
|
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ]
|
0002015 | |
| Elevated serum creatine kinase |
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased CPK
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase
[ more ]
|
0003236 |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
| Feeding difficulties |
Feeding problems
Poor feeding
[ more ]
|
0011968 |
| Flexion |
Flexed joint that cannot be straightened
|
0001371 |
| Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ]
|
0002020 |
| Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ]
|
0001510 |
| Hypoplasia of the brainstem |
Small brainstem
Underdeveloped brainstem
[ more ]
|
0002365 |
| Infantile onset |
Onset in first year of life
Onset in infancy
[ more ]
|
0003593 |
| Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
| Microglossia |
Abnormally small tongue
Underdevelopment of the tongue
[ more ]
|
0000171 |
| Motor delay | 0001270 | |
| Oculomotor nerve palsy | 0012246 | |
| Ophthalmoplegia |
Eye muscle paralysis
|
0000602 |
| Pectoralis hypoplasia |
Small pec muscle
Underdeveloped pec muscle
[ more ]
|
0008998 |
| Plagiocephaly |
Flat head syndrome
Flattening of skull
Rhomboid shaped skull
[ more ]
|
0001357 |
| Respiratory insufficiency |
Respiratory impairment
|
0002093 |
| Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ]
|
0000278 |
| Severe muscular hypotonia |
Severely decreased muscle tone
|
0006829 |
| Slow progression |
Signs and symptoms worsen slowly with time
|
0003677 |
| Tapered finger |
Tapered fingertips
Tapering fingers
[ more ]
|
0001182 |
| Trismus |
Lockjaw
|
0000211 |
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.
