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Disease Profile

Spondyloepimetaphyseal dysplasia with multiple dislocations

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

Infancy

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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.

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)

Spondyloepimetaphyseal dysplasia with multiple dislocations leptodactylic type; Spondyloepimetaphyseal dysplasia with multiple dislocations Hall type

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 93360

Definition
Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (e.g. kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly, among others.

Visit the Orphanet disease page for more resources.

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 calcification of the carpal bones
Abnormal calcification of the wrist bones
0009164
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
Flat capital femoral epiphysis
Flat end part of innermost thighbone
0003370
Hip dislocation
Dislocated hips
Dislocation of hip

[ more ]

0002827
Joint hyperflexibility
Joints move beyond expected range of motion
0005692
Kyphosis
Hunched back
Round back

[ more ]

0002808
Malar flattening
Zygomatic flattening
0000272
Metaphyseal irregularity
Irregular wide portion of a long bone
0003025
Micromelia
Smaller or shorter than typical limbs
0002983
Platyspondyly
Flattened vertebrae
0000926
Scoliosis
0002650
Short stature
Decreased body height
Small stature

[ more ]

0004322
Skeletal dysplasia
0002652
Slender metacarpals
Slender long bones of hand
0006236
30%-79% of people have these symptoms
Abnormal patella morphology
Abnormal kneecap
0003045
Abnormal sacrum morphology
0005107
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils

[ more ]

0000463
Enlarged thorax
Wide rib cage
0100625
Frontal bossing
0002007
Genu valgum
Knock knees
0002857
Global developmental delay
0001263
Laryngeal stenosis
0001602
Laryngotracheomalacia
0008755
Macrocephaly
Increased size of skull
Large head
Large head circumference

[ more ]

0000256
Nail dysplasia
Atypical nail growth
0002164
Osteoarthritis
Degenerative joint disease
0002758
Short nose
Decreased length of nose
Shortened nose

[ more ]

0003196
Wide nose
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose

[ more ]

0000445
5%-29% of people have these symptoms
Genu varum
Outward bow-leggedness
Outward bowing at knees

[ more ]

0002970
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Muscular hypotonia
Low or weak muscle tone
0001252
Pes planus
Flat feet
Flat foot

[ more ]

0001763
Short neck
Decreased length of neck
0000470
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Broad distal phalanx of finger
Broad outermost finger bone
0009836
Carpal bone hypoplasia
Small carpal bones
Small carpals

[ more ]

0001498
Caudal interpedicular narrowing
0008457
Congenital hip dislocation
Dislocated hip since birth
0001374
Delayed patellar ossification
0006454
Delayed phalangeal epiphyseal ossification
0006016
Dislocated radial head
0003083
Flared metaphysis
Flared wide portion of long bone
0003015
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Hypoplasia of the capital femoral epiphysis
Small innermost thighbone end part
Underdevelopment of the innermost thighbone end part

[ more ]

0003090
Irregular epiphyses
Irregular end part of long bone
0010582
Irregular vertebral endplates
0003301
Joint laxity
Joint instability
Lax joints
Loose-jointedness
Loosejointedness

[ more ]

0001388
Large joint dislocations
0005008
Long distal phalanx of finger
Long outermost bone of finger
0012299
Long proximal phalanx of finger
Long innermost finger bone
0006127
Midface retrusion
Decreased size of midface
Midface deficiency
Underdevelopment of midface

[ more ]

0011800
Narrow femoral neck
Narrow neck of thigh bone
0008819
Posterior scalloping of vertebral bodies
0005121
Slender distal phalanx of finger
Slender outermost bone of finger
0012296
Slender proximal phalanx of finger
Slender innermost bone of finger
0012297
Small epiphyses
Small end part of bone
0010585
Soft skin
0000977
Spinal dysraphism
0010301
Spondyloepimetaphyseal dysplasia
0002651
Streaky metaphyseal sclerosis
Streak increase in bone density in wide portion of wide bone
0005092

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 with multiple dislocations. Click on the link to view a sample search on this topic.

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