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Disease Profile

Spondyloepimetaphyseal dysplasia joint laxity

Prevalence
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

< 331

US Estimated

< 514

Europe Estimated

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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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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
Scoliosis
0002650
Short foot
Short feet
Small feet

[ more ]

0001773
Short iliac bones
Short pelvis bones
0100866
Short palm
0004279
Short stature
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 palate
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 developmental delay
0001263
Intellectual disability
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
Autosomal recessive inheritance
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 contracture
Flexed joint that cannot be straightened
0001371
Fragile skin
Skin fragility
0001030
Generalized hypotonia
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

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 joint laxity. Click on the link to view a sample search on this topic.

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