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Disease Profile

Hand foot uterus 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.

Unknown

Age of onset

Antenatal

ICD-10

Q51.2

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)

HFU syndrome; HFG syndrome; Hand foot genital syndrome;

Categories

Congenital and Genetic Diseases; Female Reproductive 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: 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.

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
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

Diagnosis

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.

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

  • 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.