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Disease Profile
Stankiewicz-Isidor 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
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
|
---|---|---|
1%-4% of people have these symptoms | ||
2-3 toe |
Webbed 2nd and 3rd toes
|
0004691 |
Abnormality of the optic disc | 0012795 | |
Absent thumb |
Absent thumbs
|
0009777 |
Autistic behavior | 0000729 | |
Cerebral visual impairment | 0100704 | |
Cryptorchidism |
Undescended testes
Undescended testis
[ 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 |
Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ] |
0000324 |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Hyperactivity |
More active than typical
|
0000752 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Hypospadias | 0000047 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Micropenis |
Short penis
Small penis
[ more ] |
0000054 |
Motor delay | 0001270 | |
Muscular |
Low or weak muscle tone
|
0001252 |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Patent ductus arteriosus | 0001643 | |
Pineal cyst | 0012683 | |
Prominent nose |
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ] |
0000448 |
Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ] |
0000278 |
Sacral dimple |
Spinal dimple
|
0000960 |
0001250 | ||
Shawl scrotum |
Scrotum surrounds penis
|
0000049 |
Short thumb |
Short thumbs
Small thumbs
[ more ] |
0009778 |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Truncus arteriosus | 0001660 | |
Ureteral |
Double ureter
|
0000073 |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Global |
0001263 | |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 |
Diagnosis
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.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Learn more
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.
In-Depth Information
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Selected Full-Text Journal Articles
- Kury S, Besnard T, Ebstein F, Khan TN, Gambin T, Douglas J, et al. De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder. Am J Hum Genet. 2017 Feb 2. 100(2): 352-363.