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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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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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.
orphanet

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
Short stature
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
Scoliosis
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
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Low-set, posteriorly rotated ears
0000368
Microdontia
Decreased width of tooth
0000691
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Microphthalmia
Abnormally small eyeball
0000568
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Short neck
Decreased length of neck
0000470
Synostosis of carpal bones
Fusion of wrist bones
0005048
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
Autosomal recessive inheritance
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
Glaucoma
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
Strabismus
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

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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