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Disease Profile

Spondyloperipheral dysplasia

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.

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)

Spondyloperipheral dysplasia with short ulna

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: 1856

Definition
Spondyloperipheral dysplasia-short ulna syndrome is a rare, genetic, primary bone dysplasia, with highly variable phenotype, typically characterized by platyspondyly, brachydactyly type E changes (short metacarpals and metatarsals, short distal phalanges in hands and feet), bilateral short ulnae and mild short stature. Other reported features include additional skeletal findings (e.g. midface hypoplasia, degenerative changes in proximal femora, limited elbow extension, bilateral sacralization of L5, clubfeet), as well as myopia, hearing loss, and intellectual disability.

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
30%-79% of people have these symptoms
Abnormality of the hip joint
0001384
Abnormality of the vertebral endplates
0005106
Cleft palate
Cleft roof of mouth
0000175
Delayed pubic bone ossification
0008788
Disproportionate short stature
0003498
Flattened epiphysis
Flat end part of bone
0003071
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
Hypoplasia of the ulna
Underdeveloped inner large forearm bone
0003022
Irregular epiphyses
Irregular end part of long bone
0010582
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness

[ more ]

0000545
Type E brachydactyly
0005863
5%-29% of people have these symptoms
Arthralgia of the hip
Hip joint pain
0003365
Broad hallux
Broad big toe
Wide big toe

[ more ]

0010055
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Flattened femoral head
Flat head of thigh bone
0008812
Hip dysplasia
0001385
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
Ovoid vertebral bodies
0003300
Platyspondyly
Flattened vertebrae
0000926
Retinal detachment
Detached retina
0000541
Short metatarsal
Short long bone of foot
0010743
Talipes
0001883
Percent of people who have these symptoms is not available through HPO
Absent styloid process of ulna
0005068
Acetabular spurs
0010454
Autosomal dominant inheritance
0000006
Barrel-shaped chest
Barrel chest
0001552
Brachydactyly
Short fingers or toes
0001156
Broad palm
Broad hand
Broad hands
Wide palm

[ more ]

0001169
Broad thumb
Broad thumbs
Wide/broad thumb

[ more ]

0011304
Cone-shaped epiphyses of the phalanges of the hand
Cone-shaped end part of finger bones
0010230
Flat acetabular roof
0003180
Flat capital femoral epiphysis
Flat end part of innermost thighbone
0003370
Kyphosis
Hunched back
Round back

[ more ]

0002808
Malar flattening
Zygomatic flattening
0000272
Midface retrusion
Decreased size of midface
Midface deficiency
Underdevelopment of midface

[ more ]

0011800
Pectus carinatum
Pigeon chest
0000768
Pugilistic facies
Boxer-like facial appearance
0000339
Sensorineural hearing impairment
0000407
Short distal phalanx of finger
Short outermost finger bone
0009882
Short distal phalanx of the 2nd finger
Short outermost bone of the index finger
0009566
Short distal phalanx of the 3rd finger
Short outermost bone of the middle finger
0004180
Short distal phalanx of the 4th finger
Short outermost bone of ring finger
0009290
Short distal phalanx of the 5th finger
Short outermost little finger bone
Short outermost pinkie finger bone
Short outermost pinky finger bone

[ more ]

0004227
Short foot
Short feet
Small feet

[ more ]

0001773
Short metacarpal
Shortened long bone of hand
0010049
Short stature
Decreased body height
Small stature

[ more ]

0004322
Short thumb
Short thumbs
Small thumbs

[ more ]

0009778
Short toe
Short toes
Stubby toes

[ more ]

0001831
Shortening of all middle phalanges of the fingers
0006110
Shortening of all proximal phalanges of the fingers
Shortening of all innermost bones of the fingers
0006144
Spondyloepiphyseal dysplasia
0002655

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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.

Where to Start

  • Genetics Home Reference (GHR) contains information on Spondyloperipheral dysplasia. This website is maintained by the National Library of Medicine.

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 Spondyloperipheral dysplasia. Click on the link to view a sample search on this topic.