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 |
|---|---|---|
| 5%-29% of people have these symptoms | ||
| 0001250 | ||
| 1%-4% of people have these symptoms | ||
| Arthrogryposis multiplex congenita | 0002804 | |
| Fetal akinesia sequence | 0001989 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of the philtrum | 0000288 | |
| Absent speech |
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal
[ more ]
|
0001344 |
| 0000006 | ||
|
Short fingers or toes
|
0001156 | |
| Camptodactyly |
Permanent flexion of the finger or toe
|
0012385 |
| Clinodactyly |
Permanent curving of the finger
|
0030084 |
| Coarse facial features |
Coarse facial appearance
|
0000280 |
| Constipation | 0002019 | |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Delayed ability to walk | 0031936 | |
| Esotropia |
Inward turning cross eyed
|
0000565 |
| Failure to thrive in infancy |
Faltering weight in infancy
Weight faltering in infancy
[ more ]
|
0001531 |
| Feeding difficulties |
Feeding problems
Poor feeding
[ more ]
|
0011968 |
| Flexion |
Flexed joint that cannot be straightened
|
0001371 |
| Frontal bossing | 0002007 | |
| Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ]
|
0002020 |
| Global |
0001263 | |
|
Decreased activity of gonads
|
0000135 | |
| Impulsivity |
Impulsive
|
0100710 |
| Inability to walk | 0002540 | |
| Infantile onset |
Onset in first year of life
Onset in infancy
[ more ]
|
0003593 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ]
|
0000303 |
| Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
| Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
|
0000545 |
| Narrow forehead |
Decreased width of the forehead
|
0000341 |
| Narrow palm | 0004283 | |
| Neonatal |
Low muscle tone, in neonatal onset
|
0001319 |
| Obesity |
Having too much body fat
|
0001513 |
| Open mouth |
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance
[ more ]
|
0000194 |
| Polyphagia |
Voracious appetite
|
0002591 |
| Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ]
|
0000278 |
| Rocker bottom foot |
Rocker bottom feet
Rocker-bottom feet
Rockerbottom feet
[ more ]
|
0001838 |
| 0002650 | ||
| Short foot |
Short feet
Small feet
[ more ]
|
0001773 |
| Short palpebral fissure |
Short opening between the eyelids
|
0012745 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Sleep apnea |
Pauses in breathing while sleeping
|
0010535 |
| Small hand |
Disproportionately small hands
|
0200055 |
| Tapered finger |
Tapered fingertips
Tapering fingers
[ more ]
|
0001182 |
| Thick eyebrow |
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ]
|
0000574 |
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.
