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Disease Profile
Spondyloepimetaphyseal dysplasia joint laxity
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
Age of onset
Neonatal
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)
SEMDJL; Spondyloepimetaphyseal dysplasia with joint laxity
Categories
Congenital and Genetic Diseases; Metabolic disorders; Musculoskeletal Diseases;
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 bone ossification | 0011849 | |
| Abnormality of epiphysis morphology |
Abnormal shape of end part of bone
|
0005930 |
| Abnormality of the metaphysis |
Abnormality of the wide portion of a long bone
|
0000944 |
| Blue sclerae |
Whites of eyes are a bluish-gray color
|
0000592 |
| Elbow dislocation |
Dislocations of the elbows
Elbow dislocations
[ more ] |
0003042 |
| Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ] |
0002827 |
| Hyperextensible skin |
Hyperelastic skin
Skin hyperelasticity
Stretchable skin
[ more ] |
0000974 |
| Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
| Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
| Long philtrum | 0000343 | |
| Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
| Platyspondyly |
Flattened vertebrae
|
0000926 |
| Proptosis |
Bulging eye
Protruding eyes
Prominent eyes
Eyeballs bulging out
Prominent globes
[ more ] |
0000520 |
| 0002650 | ||
| Short foot |
Short feet
Small feet
[ more ] |
0001773 |
| Short iliac bones |
Short pelvis bones
|
0100866 |
| Short palm | 0004279 | |
|
Decreased body height
Small stature
[ more ] |
0004322 | |
| Spondyloepimetaphyseal dysplasia | 0002651 | |
| Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
| 30%-79% of people have these symptoms | ||
|
Cleft roof of mouth
|
0000175 | |
| High palate |
Increased palatal height
Elevated palate
[ more ] |
0000218 |
| Hyperlordosis |
Prominent swayback
|
0003307 |
| 5%-29% of people have these symptoms | ||
| Abnormal cardiac septum morphology | 0001671 | |
| Aganglionic megacolon |
Enlarged colon lacking nerve cells
|
0002251 |
| Carpal synostosis | 0009702 | |
| Ectopia lentis | 0001083 | |
| Exostoses |
Formation of new noncancerous bone on top of existing bone
|
0100777 |
| Global |
0001263 | |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
| Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] |
0000545 |
| 1%-4% of people have these symptoms | ||
| Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] |
0001631 |
| Flat face |
Flat facial shape
|
0012368 |
| Genu valgum |
Knock knees
|
0002857 |
| Large iliac wings | 0008818 | |
| Pes planus |
Flat feet
Flat foot
[ more ] |
0001763 |
| Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ] |
0011220 |
| Severe short stature |
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ] |
0003510 |
| Percent of people who have these symptoms is not available through HPO | ||
| 11 pairs of ribs | 0000878 | |
| Advanced ossification of carpal bones | 0004233 | |
| 0000007 | ||
| Bicuspid aortic valve |
Aortic valve has two leaflets rather than three
|
0001647 |
| Broad distal phalanx of finger |
Broad outermost finger bone
|
0009836 |
| Coxa valga | 0002673 | |
| Cupped ribs |
Rib cupping
|
0000887 |
| Decreased body weight |
Decreased weight
Low body weight
Low weight
Weight less than 3rd percentile
[ more ] |
0004325 |
| Delayed proximal femoral epiphyseal ossification | 0008828 | |
| Dislocated radial head | 0003083 | |
| Epiphyseal dysplasia |
Abnormal development of the ends of long bones in arms and legs
|
0002656 |
| Flared iliac wings | 0002869 | |
| Flared metaphysis |
Flared wide portion of long bone
|
0003015 |
| Flaring of rib cage | 0000904 | |
| Flexion |
Flexed joint that cannot be straightened
|
0001371 |
| Fragile skin |
Skin fragility
|
0001030 |
| Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
| Hallux valgus |
Bunion
|
0001822 |
| Hip subluxation |
Partial hip dislocation
|
0030043 |
| Hypoplastic iliac body | 0008824 | |
| Irregular vertebral endplates | 0003301 | |
| Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
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. Rare Neurology News | |