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 | ||
Global |
0001263 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
Round face |
Circular face
Round facial appearance
Round facial shape
[ more ]
|
0000311 |
30%-79% of people have these symptoms | ||
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
Bilateral single transverse palmar creases | 0007598 | |
Short fingers or toes
|
0001156 | |
Broad columella | 0010761 | |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ]
|
0000490 |
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 |
Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ]
|
0002714 |
Eczema | 0000964 | |
Finger |
0006101 | |
Frontal bossing | 0002007 | |
Highly arched eyebrow |
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows
[ more ]
|
0002553 |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
Obesity |
Having too much body fat
|
0001513 |
Seizure | 0001250 | |
Short foot |
Short feet
Small feet
[ more ]
|
0001773 |
Short metacarpal |
Shortened long bone of hand
|
0010049 |
Short palm | 0004279 | |
Short stature |
Decreased body height
Small stature
[ more ]
|
0004322 |
Small hand |
Disproportionately small hands
|
0200055 |
Sparse and thin eyebrow |
Thin, sparse eyebrows
|
0000535 |
Sparse scalp hair |
Reduced/lack of hair on scalp
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair
[ more ]
|
0002209 |
Supernumerary nipple |
Accessory nipple
|
0002558 |
Thin vermilion border |
Decreased volume of lip
Thin lips
[ more ]
|
0000233 |
Toe syndactyly |
Fused toes
Webbed toes
[ more ]
|
0001770 |
Umbilical hernia | 0001537 | |
Underdeveloped nasal alae |
Underdeveloped tissue around nostril
|
0000430 |
Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
Wide intermamillary distance |
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ]
|
0006610 |
5%-29% of people have these symptoms | ||
Abnormal aortic morphology | 0001679 | |
Arrhythmia |
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ]
|
0011675 |
Attention deficit hyperactivity disorder |
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ]
|
0007018 |
Autism | 0000717 | |
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ]
|
0000405 |
0000776 | ||
Laryngomalacia |
Softening of voice box tissue
|
0001601 |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
Multicystic kidney dysplasia | 0000003 | |
Nephroblastoma | 0002667 | |
Obsessive-compulsive behavior |
Obsessive compulsive behavior
|
0000722 |
Pyloric stenosis | 0002021 | |
Sensorineural hearing impairment | 0000407 | |
Short neck |
Decreased length of neck
|
0000470 |
Sleep disturbance |
Difficulty sleeping
Trouble sleeping
[ more ]
|
0002360 |
Stereotypy |
Repetitive movements
Repetitive or self-injurious behavior
[ more ]
|
0000733 |
Subvalvular aortic stenosis |
Narrowing of blood vessel below aortic heart valve
|
0001682 |
Tracheomalacia |
Floppy windpipe
|
0002779 |
Percent of people who have these symptoms is not available through HPO | ||
Aggressive behavior |
Aggression
Aggressive behaviour
Aggressiveness
[ more ]
|
0000718 |
0000006 | ||
Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
Brachycephaly |
Short and broad skull
|
0000248 |
Broad face |
Increased breadth of face
Increased width of face
Wide face
[ more ]
|
0000283 |
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 |
Coarse facial features |
Coarse facial appearance
|
0000280 |
Congenital onset |
Symptoms present at birth
|
0003577 |
Hyperactivity |
More active than typical
|
0000752 |
Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ]
|
0001265 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Narrow palpebral fissure |
Small opening between the eyelids
|
0045025 |
Pain insensitivity | 0007021 | |
Self-injurious behavior |
Self-injurious behaviour
|
0100716 |
Short metatarsal |
Short long bone of foot
|
0010743 |
Short phalanx of finger |
Short finger bones
|
0009803 |
Short toe |
Short toes
Stubby toes
[ more ]
|
0001831 |
0001428 | ||
Wide nose |
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose
[ more ]
|
0000445 |
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.
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 should include other segmental aneusomy syndromes and Prader-Willi syndrome (see this term). AHO (pseudohypoparathyroidism; PHP) and pseudo-PHP (PPHP; see these terms) should also be included in the differential diagnosis but calcium, phosphorus, and parathormone levels are in the normal range in patients with deletion 2q37.
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.
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. Submit a new question
My niece has 2q37 deletion syndrome. I was wondering what causes it and if it can be a hidden trait. See answer