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 | ||
| Kyphoscoliosis | 0002751 | |
| 30%-79% of people have these symptoms | ||
| Arachnodactyly |
Long slender fingers
Spider fingers
[ more ]
|
0001166 |
|
Cleft roof of mouth
|
0000175 | |
| Decreased muscle mass | 0003199 | |
| Disproportionate tall stature | 0001519 | |
| Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ]
|
0000324 |
| Infantile muscular |
Decreased muscle tone in infant
|
0008947 |
| 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 |
| Long toe |
Increased length of toes
Long toes
[ more ]
|
0010511 |
| Narrow face |
Decreased breadth of face
Decreased width of face
[ more ]
|
0000275 |
| Nasal speech |
Nasal voice
|
0001611 |
| 0000939 | ||
| Slender toe |
Narrow toe
|
0011308 |
| Thick lower lip vermilion |
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ]
|
0000179 |
| Unsteady gait |
Unsteady walk
|
0002317 |
| 5%-29% of people have these symptoms | ||
| Absent speech |
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal
[ more ]
|
0001344 |
| Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
| Asymmetry of the ears |
Asymmetric ears
|
0010722 |
| Bulbous nose | 0000414 | |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Dental crowding |
Crowded teeth
Dental overcrowding
Overcrowding of teeth
[ more ]
|
0000678 |
| Difficulty standing |
Difficulty in standing
|
0003698 |
| 0002353 | ||
| Focal motor |
0011153 | |
| Generalized myoclonic seizure | 0002123 | |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Hypospadias | 0000047 | |
| Inability to walk | 0002540 | |
|
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
|
0001256 | |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Myoclonus | 0001336 | |
| Narrow mouth |
Small mouth
|
0000160 |
| Patchy hypo- and hyperpigmentation | 0007509 | |
| 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 |
| Recurrent fractures |
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures
[ more ]
|
0002757 |
| Smooth philtrum | 0000319 | |
| Sparse eyebrow |
Sparse eyebrows
|
0045075 |
| Synophrys |
Monobrow
Unibrow
[ more ]
|
0000664 |
| Testicular atrophy |
Testicular degeneration
|
0000029 |
| Unilateral |
Dropping of one upper eyelid
|
0007687 |
| Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
| Webbed neck |
Neck webbing
|
0000465 |
| 1%-4% of people have these symptoms | ||
| Abnormality of the Leydig |
0010789 | |
| Brachycephaly |
Short and broad skull
|
0000248 |
| Camptodactyly |
Permanent flexion of the finger or toe
|
0012385 |
| Cerebral edema |
Swelling of brain
|
0002181 |
| Cupped ear |
Cup-shaped ears
Simple, cup-shaped ears
[ more ]
|
0000378 |
| Ectopic kidney |
Abnormal kidney location
Displaced kidney
[ more ]
|
0000086 |
| Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ]
|
0000232 |
| High myopia |
Severe near sightedness
Severely close sighted
Severely near sighted
[ more ]
|
0011003 |
| Intellectual disability, profound |
IQ less than 20
|
0002187 |
| 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 |
| Megalencephaly | 0001355 | |
| Pectus carinatum |
Pigeon chest
|
0000768 |
| Pectus excavatum |
Funnel chest
|
0000767 |
| Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
| Short philtrum | 0000322 | |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Small earlobe |
Small earlobes
|
0000385 |
| Thickened helices | 0000391 | |
| Wide intermamillary distance |
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ]
|
0006610 |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of the pinna |
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears
[ more ]
|
0000377 |
| Bifid uvula | 0000193 | |
| Broad-based gait |
Wide based walk
|
0002136 |
|
Difficulty articulating speech
|
0001260 | |
| Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| High, narrow palate |
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ]
|
0002705 |
| Hyperextensibility of the finger joints |
Finger joint hyperextensibility
Hyperextensible digits
Hyperextensible finger
[ more ]
|
0001187 |
| Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 |
| Long fingers | 0100807 | |
| Long hallux |
Long big toe
|
0001847 |
| Long palm | 0011302 | |
| Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
| Narrow palm | 0004283 | |
| Seizure | 0001250 | |
| Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
| Tall stature |
Increased body height
|
0000098 |
| 0001419 | ||
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.
