Behavioral problems are common and often include temper tantrums, stubbornness, and obsessive-compulsive tendencies.[2][1]
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 | ||
Central hypotonia | 0011398 | |
Cryptorchidism |
Undescended testis
Undescended testes
[ more ]
|
0000028 |
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ]
|
0000750 |
Failure to thrive in infancy |
Faltering weight in infancy
Weight faltering in infancy
[ more ]
|
0001531 |
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
Global |
0001263 | |
Growth |
0000824 | |
Hypogonadotropic |
0000044 | |
Infertility | 0000789 | |
Motor delay | 0001270 | |
Narrow palm | 0004283 | |
Polyphagia |
Voracious appetite
|
0002591 |
Poor suck |
Poor sucking
|
0002033 |
Short foot |
Short feet
Small feet
[ more ]
|
0001773 |
Short palm | 0004279 | |
Short stature |
Decreased body height
Small stature
[ more ]
|
0004322 |
Specific learning disability | 0001328 | |
30%-79% of people have these symptoms | ||
Abdominal obesity |
Central obesity
|
0012743 |
Abnormal facial shape |
Unusual facial appearance
|
0001999 |
Abnormal rapid eye movement sleep | 0002494 | |
Almond-shaped palpebral fissure |
Almond shaped eyes
Almond-shaped opening between the eyelids
[ more ]
|
0007874 |
Attention deficit hyperactivity disorder |
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ]
|
0007018 |
Brain |
0410263 | |
Central adrenal insufficiency | 0011734 | |
Central sleep apnea | 0010536 | |
Clitoral hypoplasia |
Small clitoris
Underdeveloped clit
[ more ]
|
0000060 |
Cutaneous photosensitivity |
Photosensitive skin
Photosensitive skin rashes
Photosensitivity
Sensitivity to sunlight
Skin photosensitivity
Sun sensitivity
[ more ]
|
0000992 |
Decreased circulating gonadotropin level | 0030339 | |
Decreased fetal movement |
Less than 10 fetal movements in 12 hours
|
0001558 |
Decreased muscle mass | 0003199 | |
Decreased testicular size |
Small testes
Small testis
[ more ]
|
0008734 |
Delayed puberty |
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ]
|
0000823 |
0000819 | ||
Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ]
|
0002714 |
Edema |
Fluid retention
Water retention
[ more ]
|
0000969 |
Erysipelas | 0001055 | |
Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
Gastroparesis |
Delayed gastric emptying
|
0002578 |
Hypogonadism |
Decreased activity of gonads
|
0000135 |
Hypopigmentation of hair |
Loss of hair color
|
0005599 |
Hypopigmentation of the skin |
Patchy lightened skin
|
0001010 |
Hypoplastic labia majora |
Small labia majora
Underdeveloped vaginal lips
[ more ]
|
0000059 |
Hypoplastic labia minora |
Underdeveloped inner lips
|
0000064 |
Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ]
|
0001265 |
Impaired pain sensation |
Decreased pain sensation
|
0007328 |
Impaired temperature sensation |
Abnormality of temperature sensation
Loss of temperature sensation
[ more ]
|
0010829 |
Increased |
Abnormal susceptibility to fractures
Bone fragility
Frequent broken bones
Increased bone fragility
Increased tendency to fractures
[ more ]
|
0002659 |
Intellectual disability, borderline |
Mental retardation, borderline
|
0006889 |
Intellectual disability, mild |
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
|
0001256 |
Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
Narrow forehead |
Decreased width of the forehead
|
0000341 |
Narrow nasal bridge |
Narrow bridge of nose
Nasal bridge, thin
Nasal Bridge, Narrow
[ more ]
|
0000446 |
Nasal speech |
Nasal voice
|
0001611 |
Obstructive sleep apnea | 0002870 | |
Oligomenorrhea |
Light or infrequent menstrual periods
|
0000876 |
Osteopenia | 0000938 | |
0000939 | ||
Periodontitis | 0000704 | |
Perisylvian polymicrogyria | 0012650 | |
Primary amenorrhea | 0000786 | |
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
|
0002205 |
Scoliosis | 0002650 | |
Scrotal hypoplasia |
Smaller than typical growth of scrotum
|
0000046 |
Sleep apnea |
Pauses in breathing while sleeping
|
0010535 |
Small hand |
Disproportionately small hands
|
0200055 |
Small pituitary gland | 0012506 | |
Strabismus |
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 |
Thin upper lip vermilion |
Thin upper lip
|
0000219 |
Ventriculomegaly | 0002119 | |
Weak cry | 0001612 | |
5%-29% of people have these symptoms | ||
Abnormality of the cerebral white matter | 0002500 | |
Autistic behavior | 0000729 | |
Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ]
|
0000670 |
Central hypothyroidism | 0011787 | |
Decreased inhibin B level | 0031100 | |
Esotropia |
Inward turning cross eyed
|
0000565 |
Excessive daytime sleepiness | 0002189 | |
Frontal upsweep of hair |
Cowlick
Frontal Cowlick
Upswept frontal hair
[ more ]
|
0002236 |
Hip dysplasia | 0001385 | |
0000822 | ||
Intellectual disability, moderate |
IQ between 34 and 49
|
0002342 |
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
|
0000545 |
Nasogastric tube feeding in infancy | 0011470 | |
Poor fine motor coordination | 0007010 | |
Premature adrenarche | 0012412 | |
Premature pubarche |
Premature pubic hair growth
|
0012411 |
Psychosis | 0000709 | |
Radial deviation of finger | 0009466 | |
0001250 | ||
Stroke | 0001297 | |
Webbed fingers or toes
|
0001159 | |
Temperature instability | 0005968 | |
Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
Vomiting |
Throwing up
|
0002013 |
Xerostomia |
Dry mouth
Dry mouth syndrome
Reduced salivation
[ more ]
|
0000217 |
1%-4% of people have these symptoms | ||
Adrenal insufficiency | 0000846 | |
0000717 | ||
Iris hypopigmentation |
Light eye color
|
0007730 |
Precocious puberty |
Early onset of puberty
Early puberty
[ more ]
|
0000826 |
Type II diabetes mellitus |
Noninsulin-dependent diabetes
Type 2 diabetes
Type II diabetes
[ more ]
|
0005978 |
Percent of people who have these symptoms is not available through HPO | ||
Acromicria | 0031878 | |
0000006 | ||
Clinodactyly |
Permanent curving of the finger
|
0030084 |
Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ]
|
0000268 |
Generalized hypopigmentation |
Fair skin
Pale pigmentation
[ more ]
|
0007513 |
Genu valgum |
Knock knees
|
0002857 |
Hyperinsulinemia | 0000842 | |
Hypermetropia |
Farsightedness
Long-sightedness
[ more ]
|
0000540 |
Hypoventilation |
Slow breathing
Under breathing
[ more ]
|
0002791 |
Neonatal hypotonia |
Low muscle tone, in neonatal onset
|
0001319 |
Poor gross motor coordination | 0007015 | |
Sporadic |
No previous family history
|
0003745 |
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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At birth, genetic testing should be used to exclude other causes of hypotonia. If the neonatal phenotype evokes PWS and the genetics are negative, genes for the Prader-Willi-like syndrome (PWS-like) should be searched. In older individuals, the differential diagnosis is of other syndromic obesities such as Bardet-Biedl syndrome, Alström syndrome and, particularly, PWS-like.
Visit the
Orphanet disease page
for more information.
|
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.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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
I'm pregnant and my brother has Prader-Willi syndrome. What is the chance of my child having the same condition? Can it be hereditary and can I test for it before my child is born? See answer
My foster child will be tested for Prader-Willi syndrome, but has a very high IQ. Is it possible for people with Prader-Willi to have high IQs? See answer
Does the menstrual cycle happen earlier in Prader-Willi syndrome? See answer
For individuals with Prader Willi syndrome, how does this condition affect their lives when they get older? See answer