Rare Medical News

Disease Profile

Opsismodysplasia

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

Q78.8

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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Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

Opsismodysplasia is a rare skeletal dysplasia characterized by congenital short stature and characteristic craniofacial abnormalities. Clinical signs observed at birth include short limbs, small hands and feet, relative macrocephaly with a large anterior fontanel (the space between the front bones of the skull), and characteristic craniofacial abnormalities including a prominent brow, depressed nasal bridge, a small anteverted nose, and a relatively long philtrum. Children with opsismodysplasia are at an increased risk for respiratory infections and respiratory failure.[1][2][3] This condition is caused by mutations in the INPPL1 the gene. It is inherited in an autosomal recessive manner.[1][2]

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
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
Abnormally ossified vertebrae
Abnormal bone maturation of vertebra
0100569
Brachydactyly
Short fingers or toes
0001156
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development

[ more ]

0002750
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
Frontal bossing
0002007
Hypoplastic ischia
0003175
Hypoplastic pubic bone
0003173
Hypoplastic vertebral bodies
Underdeveloped back bones
0008479
Large fontanelles
Wide fontanelles
0000239
Macrocephaly
Increased size of skull
Large head
Large head circumference

[ more ]

0000256
Respiratory insufficiency
Respiratory impairment
0002093
Severe short stature
Dwarfism
Proportionate dwarfism
Short stature, severe

[ more ]

0003510
Short nose
Decreased length of nose
Shortened nose

[ more ]

0003196
Squared iliac bones
0003177
Tapered finger
Tapered fingertips
Tapering fingers

[ more ]

0001182
30%-79% of people have these symptoms
Flat occiput
0005469
Muscular hypotonia
Low or weak muscle tone
0001252
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections

[ more ]

0002205
5%-29% of people have these symptoms
Blue sclerae
Whites of eyes are a bluish-gray color
0000592
Broad thumb
Broad thumbs
Wide/broad thumb

[ more ]

0011304
Hepatomegaly
Enlarged liver
0002240
Hypophosphatemia
Low blood phosphate level
0002148
Joint stiffness
Stiff joint
Stiff joints

[ more ]

0001387
Narrow chest
Low chest circumference
Narrow shoulders

[ more ]

0000774
Pectus excavatum
Funnel chest
0000767
Renal phosphate wasting
0000117
Splenomegaly
Increased spleen size
0001744
Percent of people who have these symptoms is not available through HPO
Anterior rib cupping
0000907
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils

[ more ]

0000463
Autosomal recessive inheritance
0000007
Bell-shaped thorax
0001591
Disproportionate short-limb short stature
Short limb dwarfism, disproportionate
Short-limbed dwarfism

[ more ]

0008873
Edema
Fluid retention
Water retention

[ more ]

0000969
Flat acetabular roof
0003180
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Long philtrum
0000343
Metaphyseal cupping
0003021
Polyhydramnios
High levels of amniotic fluid
0001561
Posterior rib cupping
0000922
Protuberant abdomen
Belly sticks out
Extended belly

[ more ]

0001538
Rhizomelia
Disproportionately short upper portion of limb
0008905
Scoliosis
0002650
Severe platyspondyly
0004565
Short foot
Short feet
Small feet

[ more ]

0001773
Short long bone
Long bone shortening
0003026
Short neck
Decreased length of neck
0000470
Short palm
0004279

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

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

References

  1. INPPL1. Genetics Home Reference (GHR). March 10, 2012; https://www.ghr.nlm.nih.gov/gene/INPPL1. Accessed 3/18/2014.
  2. Opsismodysplasia; OPMSD. Online Mendelian Inheritance in Man (OMIM). March 7, 2013; https://omim.org/entry/258480. Accessed 3/18/2014.
  3. Le Merrer M. Opsismodysplasia. Orphanet. September 2009; https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=553. Accessed 3/18/2014.