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Disease Profile
Subaortic stenosis short stature syndrome
Prevalence
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.
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.
<1 / 1 000 000
Age of onset
Neonatal
ICD-10
-
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)
Onat syndrome
Categories
Congenital and Genetic Diseases; Eye diseases
Summary
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 3191
Definition
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the association of short stature and progressive discrete subaortic stenosis. Additional variable manifestations include upturned nose, voice and vocal cord abnormalities, obstructive lung disease, inguinal hernia, kyphoscoliosis and, occasionally, epicanthus, strabismus , microphthalmos and widely spaced teeth. There have been no further descriptions in the literature since 1984.
Visit the Orphanet disease page for more resources.
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 vocal cord morphology |
Abnormality of the vocal cords
|
0008777 |
| Abnormality of the voice |
Voice abnormality
|
0001608 |
| Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
| Arrhythmia |
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ] |
0011675 |
| Membranous subvalvular aortic stenosis | 0005174 | |
|
Decreased body height
Small stature
[ more ] |
0004322 | |
| 30%-79% of people have these symptoms | ||
| Inguinal hernia | 0000023 | |
| Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
| Obesity |
Having too much body fat
|
0001513 |
| Respiratory insufficiency |
Respiratory impairment
|
0002093 |
| 0002650 | ||
| 5%-29% of people have these symptoms | ||
| Abnormal circulating lipid concentration | 0003119 | |
| Acne | 0001061 | |
| Bilateral single transverse palmar creases | 0007598 | |
| Biliary tract abnormality | 0001080 | |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
| Low-set, posteriorly rotated ears | 0000368 | |
| Microdontia |
Decreased width of tooth
|
0000691 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
| Microphthalmia |
Abnormally small eyeball
|
0000568 |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Short neck |
Decreased length of neck
|
0000470 |
| Synostosis of carpal bones |
Fusion of wrist bones
|
0005048 |
| Type II |
Noninsulin-dependent diabetes
Type 2 diabetes
Type II diabetes
[ more ] |
0005978 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
| Barrel-shaped chest |
Barrel chest
|
0001552 |
| Broad finger |
Broad fingers
Wide fingers
[ more ] |
0001500 |
| Broad toe |
Wide toe
|
0001837 |
| Diastema |
Gap between teeth
|
0000699 |
| Flat face |
Flat facial shape
|
0012368 |
| 0000501 | ||
| Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ] |
0001510 |
| Hypoplasia of the maxilla |
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ] |
0000327 |
| Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
| Malar flattening |
Zygomatic flattening
|
0000272 |
| Microcornea |
Cornea of eye less than 10mm in diameter
|
0000482 |
| Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 |
| Narrow mouth |
Small mouth
|
0000160 |
| Opacification of the corneal stroma | 0007759 | |
| Pectus excavatum |
Funnel chest
|
0000767 |
| Round face |
Circular face
Round facial appearance
Round facial shape
[ more ] |
0000311 |
| Shield chest | 0000914 | |
| Short foot |
Short feet
Small feet
[ more ] |
0001773 |
| Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
| Short palm | 0004279 | |
| Short phalanx of finger |
Short finger bones
|
0009803 |
| Short toe |
Short toes
Stubby toes
[ more ] |
0001831 |
| Short upper lip |
Decreased height of upper lip
Decreased vertical length of upper lip
Shortening of upper lip
[ more ] |
0000188 |
| Small hand |
Disproportionately small hands
|
0200055 |
|
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
| Subvalvular aortic stenosis |
Narrowing of blood vessel below aortic heart valve
|
0001682 |
| Wide intermamillary distance |
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ] |
0006610 |
| 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 |
Organizations
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.
Organizations Providing General Support
-
Adult Congenital Heart Association (ACHA)
280 North Providence Road, Suite 6
Media, PA 19063
Toll-free: 1-888-921-ACHA
Telephone: +1-215-849-1260
E-mail: info@achaheart.org
Website: https://www.achaheart.org/
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
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Subaortic stenosis short stature syndrome. Click on the link to view a sample search on this topic.
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