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Disease Profile

Spondyloepimetaphyseal dysplasia Shohat type

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

-

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)

SEMD Shohat 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: 93352

Definition
Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.

Epidemiology
The syndrome has been described in three members of a Jewish family of Iraqi origin and one Mexican boy.

Clinical description
The long bone changes in adolescence show general metaphyseal irregularities and significant epiphyseal ossification delay.

Etiology
Autosomal recessive inheritance has been suggested, but the causative gene has not yet been identified.

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 epiphyseal ossification
0010656
Abnormality of epiphysis morphology
Abnormal shape of end part of bone
0005930
Abnormality of the ribs
Rib abnormalities
0000772
Flat acetabular roof
0003180
Genu varum
Outward bow-leggedness
Outward bowing at knees

[ more ]

0002970
Lumbar hyperlordosis
Excessive inward curvature of lower spine
0002938
Metaphyseal widening
Broad wide portion of long bone
0003016
Micromelia
Smaller or shorter than typical limbs
0002983
Platyspondyly
Flattened vertebrae
0000926
Severe short stature
Dwarfism
Proportionate dwarfism
Short stature, severe

[ more ]

0003510
Short femur
Short thighbone
0003097
Short iliac bones
Short pelvis bones
0100866
Short neck
Decreased length of neck
0000470
Short thorax
Shorter than typical length between neck and abdomen
0010306
Spondyloepimetaphyseal dysplasia
0002651
Thin vermilion border
Decreased volume of lip
Thin lips

[ more ]

0000233
30%-79% of people have these symptoms
Abdominal distention
Abdominal bloating
Abdominal swelling
Belly bloating
Bloating

[ more ]

0003270
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
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait

[ more ]

0001288
Hepatomegaly
Enlarged liver
0002240
Joint hyperflexibility
Joints move beyond expected range of motion
0005692
Round face
Circular face
Round facial appearance
Round facial shape

[ more ]

0000311
Splenomegaly
Increased spleen size
0001744
5%-29% of people have these symptoms
Wormian bones
Extra bones within cranial sutures
0002645
1%-4% of people have these symptoms
Hoarse voice
Hoarseness
Husky voice

[ more ]

0001609
Percent of people who have these symptoms is not available through HPO
Abnormality of the abdominal wall
0004298
Autosomal recessive inheritance
0000007
Bell-shaped thorax
0001591
Central vertebral hypoplasia
0008463
Coxa vara
0002812
Delayed epiphyseal ossification
0002663
Disproportionate short stature
0003498
Fibular overgrowth
Overgrowth of calf bone
0003099
Flared metaphysis
Flared wide portion of long bone
0003015
Joint laxity
Joint instability
Lax joints
Loose-jointedness
Loosejointedness

[ more ]

0001388
Limb undergrowth
limb shortening
Short limb
Short limbs

[ more ]

0009826
Metaphyseal irregularity
Irregular wide portion of a long bone
0003025
Narrow greater sciatic notch
0003375
Narrow vertebral interpedicular distance
0008450
Short femoral neck
Short neck of thighbone
0100864
Short ribs
0000773
Vertebral hypoplasia
Underdeveloped vertebrae
0008417

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 Shohat type. Click on the link to view a sample search on this topic.