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

Hand foot uterus syndrome



Other Names:
HFU syndrome; HFG syndrome; Hand foot genital syndrome; HFU syndrome; HFG syndrome; Hand foot genital syndrome; HFGS See More
Categories:

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

Orpha Number: 2438

Definition
Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects.

Visit the Orphanet disease page for more resources.
Last updated: 1/1/2014

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.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Bicornuate uterus
Heart shaped uterus
Heart-shaped uterus
[ more ]
0000813
Proximal placement of thumb
Attachment of thumb close to wrist
0009623
Short 1st metacarpal
Shortened 1st long bone of hand
0010034
Short distal phalanx of finger
Short outermost finger bone
0009882
Short first metatarsal
Short 1st long bone of foot
0010105
Short hallux
Short big toe
0010109
Shortening of all middle phalanges of the fingers 0006110
Synostosis of carpal bones
Fusion of wrist bones
0005048
Ureteropelvic junction obstruction 0000074
30%-79% of people have these symptoms
Abnormal dermatoglyphics
Abnormal fingerprints
0007477
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Hallux varus 0008080
Hypoplastic fifth toenail
Small fifth toenail
Underdeveloped fifth toenail
[ more ]
0011937
Hypospadias 0000047
Recurrent urinary tract infections
Frequent urinary tract infections
Repeated bladder infections
Repeated urinary tract infections
Urinary tract infections
Urinary tract infections, recurrent
[ more ]
0000010
Vesicoureteral reflux 0000076
5%-29% of people have these symptoms
Microtia
Small ears
Underdeveloped ears
[ more ]
0008551
Postaxial hand polydactyly
Extra little finger
Extra pinkie finger
Extra pinky finger
[ more ]
0001162
Sacral dimple
Spinal dimple
0000960
Spontaneous abortion 0005268
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ]
0000486
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Bifid scrotum
Cleft of scrotum
0000048
Brachydactyly
Short fingers or toes
0001156
Chordee 0000041
Delayed ossification of carpal bones 0001216
Delayed tarsal ossification 0008103
Longitudinal vaginal septum 0008740
Micropenis
Short penis
Small penis
[ more ]
0000054
Pseudoepiphyses 0010584
Pyelonephritis 0012330
Renal insufficiency
Renal failure
Renal failure in adulthood
[ more ]
0000083
Short 2nd toe
Short second toe
0001885
Small thenar eminence 0001245
Ulnar deviation of the 2nd finger 0009464
Uterus didelphys 0003762
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Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • 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 Hand foot uterus syndrome. Click on the link to view a sample search on this topic.

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