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Disease Profile
Schaaf-Yang syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
#N/A
Age of onset
#N/A
ICD-10
#N/A
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Prader-Willi syndrome due to a point mutation; PWS due to a point mutation; MAGEL2-related Prader-Willi-like syndrome;
Categories
Congenital and Genetic Diseases; Endocrine Diseases; Female Reproductive Diseases;
Summary
Schaaf-Yang
Symptoms
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 | ||
Abnormal facial shape |
Unusual facial appearance
|
0001999 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Flexion |
Flexed joint that cannot be straightened
|
0001371 |
Infantile muscular |
Decreased muscle tone in infant
|
0008947 |
Infertility | 0000789 | |
Motor delay | 0001270 | |
Neonatal hypotonia |
Low muscle tone, in neonatal onset
|
0001319 |
Poor suck |
Poor sucking
|
0002033 |
30%-79% of people have these symptoms | ||
Abdominal obesity |
Central obesity
|
0012743 |
Abnormal temper tantrums | 0025160 | |
Absence of pubertal development | 0008197 | |
Autistic behavior | 0000729 | |
Brain |
0410263 | |
Chronic constipation |
Infrequent bowel movements
|
0012450 |
Clitoral hypoplasia |
Small clitoris
Underdeveloped clit
[ more ] |
0000060 |
Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] |
0100543 |
Decreased fetal movement |
Less than 10 fetal movements in 12 hours
|
0001558 |
Decreased testicular size |
Small testes
Small testis
[ more ] |
0008734 |
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 |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ] |
0002020 |
Decreased activity of gonads
|
0000135 | |
Hypoplastic labia minora |
Underdeveloped inner lips
|
0000064 |
Hypothalamic luteinizing |
0012287 | |
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 |
Nasogastric tube feeding | 0040288 | |
Polyphagia |
Voracious appetite
|
0002591 |
Primary amenorrhea | 0000786 | |
Reduced tendon reflexes | 0001315 | |
0002650 | ||
Scrotal hypoplasia |
Smaller than typical growth of scrotum
|
0000046 |
Short foot |
Short feet
Small feet
[ more ] |
0001773 |
Decreased body height
Small stature
[ more ] |
0004322 | |
Skin-picking | 0012166 | |
Small hand |
Disproportionately small hands
|
0200055 |
Small pituitary gland | 0012506 | |
Specific learning disability | 0001328 | |
Temperature instability | 0005968 | |
Ventriculomegaly | 0002119 | |
Weak cry | 0001612 | |
5%-29% of people have these symptoms | ||
Abnormal rapid eye movement sleep | 0002494 | |
Almond-shaped palpebral fissure |
Almond shaped eyes
Almond-shaped opening between the eyelids
[ more ] |
0007874 |
Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] |
0001631 |
Central hypothyroidism | 0011787 | |
Central sleep apnea | 0010536 | |
Chorioretinal hypopigmentation | 0040030 | |
Confusional arousal | 0025237 | |
Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ] |
0002714 |
Esotropia |
Inward turning cross eyed
|
0000565 |
Hip dysplasia | 0001385 | |
Hypopigmentation of hair |
Loss of hair color
|
0005599 |
Hypopigmentation of the skin |
Patchy lightened skin
|
0001010 |
Impaired temperature sensation |
Abnormality of temperature sensation
Loss of temperature sensation
[ more ] |
0010829 |
Impulsivity |
Impulsive
|
0100710 |
Lethargy | 0001254 | |
Micropenis |
Short penis
Small penis
[ more ] |
0000054 |
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] |
0000545 |
OrganizationsSupport 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. Organizations Supporting this Disease
Learn moreThese 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. Where to Start
In-Depth Information
References
Rare Neurology News |