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Disease Profile
Spondyloepimetaphyseal dysplasia X-linked
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.
0
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)
SEMDX; SEMD X-linked; Spondylo-epimetaphyseal dysplasia
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
Orpha Number: 93349
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
|
---|---|---|
Percent of people who have these symptoms is not available through HPO | ||
Anterior wedging of T11 | 0004573 | |
Anterior wedging of T12 | 0011940 | |
Short fingers or toes
|
0001156 | |
Broad long bone diaphyses |
Broad shaft of long bone
Wide shaft of long bone
[ more ] |
0006371 |
Broad metacarpals |
Wide long bones of hand
|
0001230 |
Broad phalanx |
Wide digital bones
|
0006009 |
Cone-shaped distal radial epiphysis | 0004000 | |
Cone-shaped epiphyses fused within their metaphyses |
Cone-shaped end part of long bone fused within their wide portion of wide bone
|
0005066 |
Cone-shaped epiphyses of the phalanges of the hand |
Cone-shaped end part of finger bones
|
0010230 |
Cone-shaped metacarpal epiphyses |
Cone-shaped end part of long bone
|
0006059 |
Coxa valga | 0002673 | |
Delayed ossification of carpal bones | 0001216 | |
Disproportionate short-trunk |
Disproportionate short-trunked dwarfism
Disproportionate short-trunked short stature
Short-trunked dwarfism
[ more ] |
0003521 |
Flared iliac wings | 0002869 | |
Flat acetabular roof | 0003180 | |
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 |
Hypoplasia of the odontoid process | 0003311 | |
Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
Limited elbow extension |
Decreased elbow extension
Elbow limited extension
Limitation of elbow extension
Limited extension at elbows
Limited forearm extension
Restricted elbow extension
[ more ] |
0001377 |
Long fibula |
Long calf bone
|
0003085 |
Long ulna | 0003988 | |
Lumbar hyperlordosis |
Excessive inward curvature of lower spine
|
0002938 |
Metaphyseal irregularity |
Irregular wide portion of a long bone
|
0003025 |
Narrow pelvis bone | 0003275 | |
Pectus carinatum |
Pigeon chest
|
0000768 |
Platyspondyly |
Flattened vertebrae
|
0000926 |
Posterior rib cupping | 0000922 | |
Prominent styloid process of ulna | 0004981 | |
Radial deviation of the hand | 0009486 | |
Short clavicles |
Short collarbone
|
0000894 |
Short foot |
Short feet
Small feet
[ more ] |
0001773 |
Short long bone |
Long bone shortening
|
0003026 |
Short metacarpal |
Shortened long bone of hand
|
0010049 |
Short palm | 0004279 | |
Short phalanx of finger |
Short finger bones
|
0009803 |
Spondyloepimetaphyseal dysplasia | 0002651 | |
0001419 |
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 X-linked. Click on the link to view a sample search on this topic.