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Disease Profile
Spondyloepimetaphyseal dysplasia Genevieve 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
Infancy
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 Genevieve type
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
Orpha Number: 168454
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
|
---|---|---|
5%-29% of people have these symptoms | ||
Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ] |
0001388 |
0001250 | ||
Small basal ganglia | 0012697 | |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Ventriculomegaly | 0002119 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the pinna |
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears
[ more ] |
0000377 |
Abnormality of the skin | 0000951 | |
0001251 | ||
0000007 | ||
Brachycephaly |
Short and broad skull
|
0000248 |
Carpal bone hypoplasia |
Small carpal bones
Small carpals
[ more ] |
0001498 |
Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
Coarse facial features |
Coarse facial appearance
|
0000280 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Flared metaphysis |
Flared wide portion of long bone
|
0003015 |
Flat acetabular roof | 0003180 | |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Hirsutism |
Excessive hairiness
|
0001007 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Intellectual disability, severe |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] |
0010864 |
Irregular epiphyses |
Irregular end part of long bone
|
0010582 |
Irregular vertebral endplates | 0003301 | |
Long fibula |
Long calf bone
|
0003085 |
Low anterior hairline |
Low frontal hairline
Low-set frontal hairline
[ more ] |
0000294 |
Low posterior hairline |
Low hairline at back of neck
|
0002162 |
Metaphyseal irregularity |
Irregular wide portion of a long bone
|
0003025 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
Narrow iliac wings | 0002868 | |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Platyspondyly |
Flattened vertebrae
|
0000926 |
Posterior scalloping of vertebral bodies | 0005121 | |
Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ] |
0011220 |
Short femoral neck |
Short neck of thighbone
|
0100864 |
Short neck |
Decreased length of neck
|
0000470 |
Small epiphyses |
Small end part of bone
|
0010585 |
Spondyloepimetaphyseal dysplasia | 0002651 | |
Synophrys |
Monobrow
Unibrow
[ more ] |
0000664 |
Thick lower lip vermilion |
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ] |
0000179 |
Wide nose |
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose
[ more ] |
0000445 |
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 Genevieve type. Click on the link to view a sample search on this topic.