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Disease Profile

Spondyloepimetaphyseal dysplasia Genevieve 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

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.

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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 Genevieve 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: 168454

Definition
Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.

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
5%-29% of people have these symptoms
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Joint laxity
Joint instability
Lax joints
Loose-jointedness
Loosejointedness

[ more ]

0001388
Seizure
0001250
Small basal ganglia
0012697
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
Ventriculomegaly
0002119
Percent of people who have these symptoms is not available through HPO
Abnormality of the pinna
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears

[ more ]

0000377
Abnormality of the skin
0000951
Ataxia
0001251
Autosomal recessive inheritance
0000007
Brachycephaly
Short and broad skull
0000248
Carpal bone hypoplasia
Small carpal bones
Small carpals

[ more ]

0001498
Cerebral atrophy
Degeneration of cerebrum
0002059
Coarse facial features
Coarse facial appearance
0000280
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Flared metaphysis
Flared wide portion of long bone
0003015
Flat acetabular roof
0003180
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Hirsutism
Excessive hairiness
0001007
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Intellectual disability, severe
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation

[ more ]

0010864
Irregular epiphyses
Irregular end part of long bone
0010582
Irregular vertebral endplates
0003301
Long fibula
Long calf bone
0003085
Low anterior hairline
Low frontal hairline
Low-set frontal hairline

[ more ]

0000294
Low posterior hairline
Low hairline at back of neck
0002162
Metaphyseal irregularity
Irregular wide portion of a long bone
0003025
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Muscular hypotonia
Low or weak muscle tone
0001252
Narrow iliac wings
0002868
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Platyspondyly
Flattened vertebrae
0000926
Posterior scalloping of vertebral bodies
0005121
Prominent forehead
Pronounced forehead
Protruding forehead

[ more ]

0011220
Short femoral neck
Short neck of thighbone
0100864
Short neck
Decreased length of neck
0000470
Small epiphyses
Small end part of bone
0010585
Spondyloepimetaphyseal dysplasia
0002651
Synophrys
Monobrow
Unibrow

[ more ]

0000664
Thick lower lip vermilion
Increased volume of lower lip
Plump lower lip
Prominent lower lip

[ more ]

0000179
Wide nose
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose

[ more ]

0000445

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