Orpha Number: 2462
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 | ||
Arachnodactyly |
Long slender fingers
Spider fingers
[ more ]
|
0001166 |
Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ]
|
0000268 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
High, narrow palate |
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ]
|
0002705 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
Small jaw
Little lower jaw
Small lower jaw
[ more ]
|
0000347 | |
Muscular |
Low or weak muscle tone
|
0001252 |
Pes planus |
Flat feet
Flat foot
[ more ]
|
0001763 |
Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ]
|
0000278 |
Telecanthus |
Corners of eye widely separated
|
0000506 |
30%-79% of people have these symptoms | ||
Abnormal aortic valve morphology | 0001646 | |
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
Communicating |
0001334 | |
0001363 | ||
Frontal bossing | 0002007 | |
High forehead | 0000348 | |
Hypoplasia of the maxilla |
Decreased size of maxilla
Maxillary deficiency
Decreased size of upper jaw
Upper jaw retrusion
Upper jaw deficiency
Small upper jaw bones
Small upper jaw
Small maxilla
Maxillary retrusion
[ more ]
|
0000327 |
Inguinal hernia | 0000023 | |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
Mitral regurgitation | 0001653 | |
Mitral valve prolapse | 0001634 | |
Pectus carinatum |
Pigeon chest
|
0000768 |
Pectus excavatum |
Funnel chest
|
0000767 |
Drooping upper eyelid
|
0000508 | |
0002650 | ||
Squint eyes
Squint
Cross-eyed
[ more ]
|
0000486 | |
Umbilical hernia | 0001537 | |
5%-29% of people have these symptoms | ||
Abnormal form of the vertebral bodies | 0003312 | |
Abnormality of the metaphysis |
Abnormality of the wide portion of a long bone
|
0000944 |
Anteverted nares |
Upturned nasal tip
Nasal tip, upturned
Upturned nostrils
Upturned nose
[ more ]
|
0000463 |
Aplasia/Hypoplasia of the abdominal wall musculature |
Absent/small abdominal wall muscles
Absent/underdeveloped abdominal wall muscles
[ more ]
|
0010318 |
Apnea | 0002104 | |
Arnold-Chiari malformation | 0002308 | |
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ]
|
0000405 |
Cryptorchidism |
Undescended testis
Undescended testes
[ more ]
|
0000028 |
Elbow dislocation |
Dislocations of the elbows
Elbow dislocations
[ more ]
|
0003042 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
Gastroesophageal reflux |
Acid reflux disease
Acid reflux
Heartburn
[ more ]
|
0002020 |
Genu valgum |
Knock knees
|
0002857 |
Hyperextensible skin |
Skin hyperelasticity
Hyperelastic skin
Stretchable skin
[ more ]
|
0000974 |
Joint stiffness |
Stiff joint
Stiff joints
[ more ]
|
0001387 |
Decreased circumference of cranium
Abnormally small skull
Small head circumference
Reduced head circumference
Decreased size of skull
[ more ]
|
0000252 | |
Missing ribs |
Absent ribs
Decreased rib number
[ more ]
|
0000921 |
Myopia |
Close sighted
Near sightedness
Near sighted
Nearsightedness
[ more ]
|
0000545 |
Narrow chest |
Low chest circumference
Narrow shoulders
[ more ]
|
0000774 |
Osteopenia | 0000938 | |
Protruding ear |
Prominent ear
Prominent ears
[ more ]
|
0000411 |
Ventriculomegaly | 0002119 | |
1%-4% of people have these symptoms | ||
Abdominal wall muscle weakness | 0009023 | |
Aortic aneurysm |
Bulge in wall of large artery that carries blood away from heart
|
0004942 |
Camptodactyly |
Permanent flexion of the finger or toe
|
0012385 |
Dislocated radial head | 0003083 | |
Feeding difficulties in infancy | 0008872 | |
High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
Hydrocephalus |
Too much cerebrospinal fluid in the brain
|
0000238 |
Joint |
0009473 | |
Joint hypermobility |
Double-Jointed
Flexible joints
Increased mobility of joints
[ more ]
|
0001382 |
Low-set, posteriorly rotated ears | 0000368 | |
Metaphyseal widening |
Broad wide portion of long bone
|
0003016 |
Obstructive sleep apnea | 0002870 | |
Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ]
|
0011220 |
Shallow orbits |
Decreased depth of eye sockets
Shallow eye sockets
[ more ]
|
0000586 |
Supernumerary ribs |
Extra ribs
|
0005815 |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
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 |
Arnold-Chiari type I malformation | 0007099 | |
0000006 | ||
Brachyturricephaly |
High, prominent forehead
|
0000244 |
C1-C2 vertebral abnormality | 0008440 | |
Dental malocclusion |
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches
[ more ]
|
0000689 |
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
Genu recurvatum |
Back knee
Knee hyperextension
[ more ]
|
0002816 |
Global |
0001263 | |
Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ]
|
0001388 |
Lateral clavicle hook |
Hook-shaped collarbone
|
0000895 |
Metatarsus adductus |
Front half of foot turns inward
|
0001840 |
Minimal subcutaneous fat |
Minimal fat below the skin
|
0003717 |
Narrow palate |
Narrow roof of mouth
|
0000189 |
Sporadic |
No previous family history
|
0003745 |
Thin ribs |
Slender ribs
|
0000883 |
Wide anterior fontanel |
Wider-than-typical soft spot of skull
|
0000260 |
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.
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.
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