Rare Endocrinology News

Disease Profile

PHAVER syndrome

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

Q87.8

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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Other names (AKA)

Pterygia Heart defects Autosomal recessive inheritance Vertebral defects Ear anomalies and Radial defects

Categories

Congenital and Genetic Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
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Orpha Number: 2876

Definition
Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects.

Epidemiology
It has been described in two sibs. One of the sibs also had a myelomeningocele.

Genetic counseling
The reported cases suggest the condition is hereditary with probable autosomal recessive inheritance.

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
Abnormality of the ribs
Rib abnormalities
0000772
Butterfly vertebrae
0003316
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation

[ more ]

0001511
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Posteriorly rotated ears
Ears rotated toward back of head
0000358
Pterygium
0001059
Ulnar deviation of finger
Finger bends toward pinky
0009465
30%-79% of people have these symptoms
Aplasia/Hypoplasia of the earlobes
Absent/small ear lobes
Absent/underdeveloped ear lobes

[ more ]

0009906
Broad hallux phalanx
Broad bone of big toe
Wide bone of big toe

[ more ]

0010059
Broad thumb
Broad thumbs
Wide/broad thumb

[ more ]

0011304
Camptodactyly of finger
Permanent flexion of the finger
0100490
Coarctation of aorta
Narrowing of aorta
Narrowing of the aorta

[ more ]

0001680
Conductive hearing impairment
Conductive deafness
Conductive hearing loss

[ more ]

0000405
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
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Hypoplastic aortic arch
Underdeveloped aortic arch
0012304
Joint stiffness
Stiff joint
Stiff joints

[ more ]

0001387
Myelomeningocele
0002475
Overfolded helix
Overfolded ears
0000396
Pulmonary artery atresia
0004935
Radioulnar synostosis
Fused forearm bones
0002974
Short thumb
Short thumbs
Small thumbs

[ more ]

0009778
Triphalangeal thumb
Finger-like thumb
0001199
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629

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