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Disease Profile
Shprintzen omphalocele 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.
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Age of onset
Neonatal
ICD-10
Q79.2
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)
Shprintzen-Goldberg omphalocele syndrome; Omphalocele, laryngeal and pharyngeal hypoplasia, learning disabilities, dysmorphic facies and spinal anomalies; Laryngeal and pharyngeal hypoplasia with omphalocele;
Categories
Congenital and Genetic Diseases; Digestive Diseases; Nervous System Diseases
Summary
Orpha Number: 3164
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 eyelash morphology |
Abnormal eyelashes
Abnormality of the eyelashes
Eyelash abnormality
[ more ] |
0000499 |
Anteroposteriorly shortened larynx | 0005956 | |
Global |
0001263 | |
High pitched voice | 0001620 | |
Hypoplasia of the pharynx | 0009555 | |
Laryngeal hypoplasia | 0008749 | |
Muscular |
Low or weak muscle tone
|
0001252 |
0002650 | ||
Sparse lateral eyebrow |
Limited hair on end of eyebrow
|
0005338 |
30%-79% of people have these symptoms | ||
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ] |
0002714 |
Neonatal respiratory distress |
Infantile respiratory distress
Newborn respiratory distress
Respiratory distress, neonatal
[ more ] |
0002643 |
Omphalocele | 0001539 | |
Short columella | 0002000 | |
Telecanthus |
Corners of eye widely separated
|
0000506 |
Thin upper lip vermilion |
Thin upper lip
|
0000219 |
5%-29% of people have these symptoms | ||
Anal atresia |
Absent anus
|
0002023 |
Chronic diarrhea | 0002028 | |
Feeding difficulties in infancy | 0008872 | |
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ] |
0002020 |
Narrow chest |
Low chest circumference
Narrow shoulders
[ more ] |
0000774 |
Webbed neck |
Neck webbing
|
0000465 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal facial shape |
Unusual facial appearance
|
0001999 |
Abnormality of the mouth |
Abnormal mouth
|
0000153 |
0000006 | ||
Decreased body weight |
Decreased weight
Low body weight
Low weight
Weight less than 3rd percentile
[ more ] |
0004325 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Flared nostrils | 0000454 | |
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
Lumbar hyperlordosis |
Excessive inward curvature of lower spine
|
0002938 |
Decreased body height
Small stature
[ more ] |
0004322 | |
Single umbilical artery |
Only one artery in umbilical cord instead of two
|
0001195 |
Specific learning disability | 0001328 | |
Thin vermilion border |
Decreased volume of lip
Thin lips
[ more ] |
0000233 |
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 Shprintzen omphalocele syndrome. Click on the link to view a sample search on this topic.