Rare Nephrology News

Disease Profile

STAR syndrome

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

US Estimated

Europe Estimated

Age of onset






Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.


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.


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.


recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.


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.


Not applicable


Other names (AKA)

Syndactyly, telecanthus, anogenital and renal malformations; Toe syndactyly, telecanthus, anogenital and renal malformations


Congenital and Genetic Diseases; Digestive Diseases; Musculoskeletal Diseases


STAR syndrome is a very rare syndrome that affects many parts of the body. "STAR" is an acronym for the primary signs and symptoms of the syndrome:[1]

  • Syndactyly webbed or conjoined fingers or toes (the toes are particularly affected in this syndrome).
  •  Telecanthus increased distance between the inner corners of the eyes.
  •  Anogenital malformations abnormal formation of the anus and/or genitals.
  •  Renal malformations. abnormal formation of the kidneys.

However, some people with STAR syndrome have had a variety of additional features affecting many parts of the body. STAR syndrome may be caused by a mutation or deletion affecting the FAM58A gene, also called the  CCNQ gene. In some cases, other features may be due to larger deletions that involve other genes besides the FAM58A gene. Additional features that have been reported include other skeletal abnormalities, hearing loss, epilepsy, ocular abnormalities, syringomyelia, tethered spinal cord, and various other birth defects.[1][2]

Inheritance of STAR syndrome is X-linked dominant. The syndrome is thought to be lethal in male embryos; only females with STAR syndrome have been reported.[1] Treatment depends on the specific features and severity in each person.


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:
80%-99% of people have these symptoms
Anal atresia
Absent anus
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
Lop ear
Short stature
Decreased body height
Small stature

[ more ]

Toe syndactyly
Fused toes
Webbed toes

[ more ]

30%-79% of people have these symptoms
Abnormal cardiac septum morphology
Bicornuate uterus
Heart shaped uterus
Heart-shaped uterus

[ more ]

Bulbous nose
Clitoral hypertrophy
Enlarged clitoris
Ectopic kidney
Abnormal kidney location
Displaced kidney

[ more ]

Horseshoe kidney
Horseshoe kidneys
Labial hypoplasia
Underdeveloped labia
Renal agenesis
Absent kidney
Missing kidney

[ more ]

Renal insufficiency
Renal failure
Renal failure in adulthood

[ more ]

Corners of eye widely separated
Thin upper lip vermilion
Thin upper lip
Vesicoureteral reflux
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge

[ more ]

5%-29% of people have these symptoms
Abnormality of the pinna
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears

[ more ]

Aortic regurgitation
Eyelid coloboma
Cleft eyelid
Notched eyelid

[ more ]

Hypoplasia of the radius
Underdeveloped outer large forearm bone
Macular dystrophy
Mitral atresia
Close sighted
Near sighted
Near sightedness

[ more ]

Pulmonary artery stenosis
Narrowing of lung artery
Fluid-filled cyst in spinal cord
1%-4% of people have these symptoms
Low-set ears
Low set ears
Lowset ears

[ more ]

Percent of people who have these symptoms is not available through HPO
Anal stenosis
Narrowing of anal opening
Bicuspid aortic valve
Aortic valve has two leaflets rather than three
Broad forehead
Increased width of the forehead
Wide forehead

[ more ]

Broad nasal tip
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose

[ more ]

Duane anomaly
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation

[ more ]

Narrow nose
Decreased nasal breadth
Decreased nasal width
Thin nose

[ more ]

Pelvic kidney
Peripheral pulmonary artery stenosis
Narrowing of peripheral lung artery
Rectovaginal fistula
Abnormal connection between rectum and vagina
Small for gestational age
Birth weight less than 10th percentile
Low birth weight

[ more ]

Spina bifida occulta
X-linked dominant inheritance


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.


    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Organizations Providing General Support

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


          1. Bedeschi MF, Giangiobbe S, Paganini L, et al. STAR syndrome plus: The first description of a female patient with the lethal form. Am J Med Genet A. December, 2017; 173(12):3226-3230. https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.38484.
          2. Boczek NJ, Kruisselbrink T, Cousin MA, Blackburn PR, Klee EW, Gavrilova RH Lanpher BC. Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype. Am J Med Genet A. May, 2017; 173(5):1328-1333. https://www.ncbi.nlm.nih.gov/pubmed/28322501.