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Disease Profile

Acropectorovertebral dysplasia F form

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

Q74.8

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.

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)

ACRPV; F syndrome; Acropectorovertebral dysplasia

Categories

Congenital and Genetic Diseases; Lung 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: 957

Definition
A rare skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones).

Epidemiology
It has been described in less than 30 patients from three unrelated families.

Clinical description
Other manifestations include prominence of the sternum with variable pectus excavatum, lumbosacral spina bifida occulta, minor craniofacial anomalies and mild intellectual deficit.

Etiology
The causative gene has been mapped to chromosome region 2q36.

Genetic counseling
This syndrome is transmitted as an autosomal dominant trait with full penetrance.

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
Broad thumb
Broad thumbs
Wide/broad thumb

[ more ]

0011304
Finger syndactyly
0006101
Pectus excavatum
Funnel chest
0000767
Short distal phalanx of finger
Short outermost finger bone
0009882
Synostosis of carpal bones
Fusion of wrist bones
0005048
Tarsal synostosis
Fused ankle bones
0008368
Triphalangeal thumb
Finger-like thumb
0001199
30%-79% of people have these symptoms
Intellectual disability, mild
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation

[ more ]

0001256
Spina bifida
0002414
5%-29% of people have these symptoms
Camptodactyly of finger
Permanent flexion of the finger
0100490
Cleft palate
Cleft roof of mouth
0000175
High, narrow palate
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth

[ more ]

0002705
Percent of people who have these symptoms is not available through HPO
Abnormal thorax morphology
Abnormality of the chest
0000765
Abnormal vertebral morphology
0003468
Autosomal dominant inheritance
0000006
Bifid distal phalanx of the thumb
Notched outermost bone of the thumb
0009611
Capitate-hamate fusion
0001241
Radial deviation of the 2nd finger
0009467
Short thumb
Short thumbs
Small thumbs

[ more ]

0009778
Skeletal dysplasia
0002652
Spina bifida occulta at L5
0004601
Spina bifida occulta at S1
0004614
Toe syndactyly
Fused toes
Webbed toes

[ more ]

0001770

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 Acropectorovertebral dysplasia F form. Click on the link to view a sample search on this topic.