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 | ||
Convex nasal ridge |
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity
[ more ]
|
0000444 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Severe global |
0011344 | |
Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ]
|
0000431 |
30%-79% of people have these symptoms | ||
Abnormality of cardiovascular system morphology | 0030680 | |
Bilateral single transverse palmar creases | 0007598 | |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
Hypoplastic toenails |
Underdeveloped toenails
|
0001800 |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
Low-set, posteriorly rotated ears | 0000368 | |
Macrotia |
Large ears
|
0000400 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
Short neck |
Decreased length of neck
|
0000470 |
Decreased body height
Small stature
[ more ]
|
0004322 | |
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
5%-29% of people have these symptoms | ||
Abnormal fingernail morphology |
Abnormal fingernails
Abnormality of the fingernails
[ more ]
|
0001231 |
Abnormality of the elbow |
Abnormality of the elbows
|
0009811 |
Anal atresia |
Absent anus
|
0002023 |
Cleft roof of mouth
|
0000175 | |
Ectopic anus |
Abnormal anus position
|
0004397 |
Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
Joint stiffness |
Stiff joint
Stiff joints
[ more ]
|
0001387 |
Non-midline |
0100335 | |
Polycystic ovaries | 0000147 | |
Webbed neck |
Neck webbing
|
0000465 |
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
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The differential diagnosis for patients with distal monosomy 10p should include deletion 22q11 syndrome and other causes of hypoparathyroidism, depending on the phenotype.
Visit the
Orphanet disease page
for more information.
|
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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