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Disease Profile
Spondyloepimetaphyseal dysplasia Shohat type
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
-
ICD-10
Q77.7
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)
SEMD Shohat type
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
Orpha Number: 93352
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 epiphyseal ossification | 0010656 | |
Abnormality of epiphysis morphology |
Abnormal shape of end part of bone
|
0005930 |
Abnormality of the ribs |
Rib abnormalities
|
0000772 |
Flat acetabular roof | 0003180 | |
Genu varum |
Outward bow-leggedness
Outward bowing at knees
[ more ] |
0002970 |
Lumbar hyperlordosis |
Excessive inward curvature of lower spine
|
0002938 |
Metaphyseal widening |
Broad wide portion of long bone
|
0003016 |
Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
Platyspondyly |
Flattened vertebrae
|
0000926 |
Severe |
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ] |
0003510 |
Short femur |
Short thighbone
|
0003097 |
Short iliac bones |
Short pelvis bones
|
0100866 |
Short neck |
Decreased length of neck
|
0000470 |
Short thorax |
Shorter than typical length between neck and abdomen
|
0010306 |
Spondyloepimetaphyseal dysplasia | 0002651 | |
Thin vermilion border |
Decreased volume of lip
Thin lips
[ more ] |
0000233 |
30%-79% of people have these symptoms | ||
Abdominal distention |
Abdominal bloating
Abdominal swelling
Belly bloating
Bloating
[ more ] |
0003270 |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] |
0005280 |
Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ] |
0001288 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
Round face |
Circular face
Round facial appearance
Round facial shape
[ more ] |
0000311 |
Splenomegaly |
Increased spleen size
|
0001744 |
5%-29% of people have these symptoms | ||
Wormian bones |
Extra bones within cranial sutures
|
0002645 |
1%-4% of people have these symptoms | ||
Hoarse voice |
Hoarseness
Husky voice
[ more ] |
0001609 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the abdominal wall | 0004298 | |
0000007 | ||
Bell-shaped thorax | 0001591 | |
Central vertebral hypoplasia | 0008463 | |
Coxa vara | 0002812 | |
Delayed epiphyseal ossification | 0002663 | |
Disproportionate short stature | 0003498 | |
Fibular overgrowth |
Overgrowth of calf bone
|
0003099 |
Flared metaphysis |
Flared wide portion of long bone
|
0003015 |
Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ] |
0001388 |
Limb undergrowth |
limb shortening
Short limb
Short limbs
[ more ] |
0009826 |
Metaphyseal irregularity |
Irregular wide portion of a long bone
|
0003025 |
Narrow greater sciatic notch | 0003375 | |
Narrow vertebral interpedicular distance | 0008450 | |
Short femoral neck |
Short neck of thighbone
|
0100864 |
Short ribs | 0000773 | |
Vertebral hypoplasia |
Underdeveloped vertebrae
|
0008417 |
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 Spondyloepimetaphyseal dysplasia Shohat type. Click on the link to view a sample search on this topic.