National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

PHAVER syndrome


Other Names:
Pterygia Heart defects Autosomal recessive inheritance Vertebral defects Ear anomalies and Radial defects
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

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.
Last updated: 10/1/2010

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.

Showing of 25 |
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
Showing of 25 |
Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

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.

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