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

STAR syndrome


Other Names:
Syndactyly, telecanthus, anogenital and renal malformations; Toe syndactyly, telecanthus, anogenital and renal malformations
Categories:
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.

Last updated: 6/14/2018

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 43 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Anal atresia
Absent anus
0002023
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Lop ear 0000394
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Toe syndactyly
Fused toes
Webbed toes
[ more ] 		0001770
30%-79% of people have these symptoms
Abnormal cardiac septum morphology 0001671
Bicornuate uterus
Heart shaped uterus
Heart-shaped uterus
[ more ] 		0000813
Bulbous nose 0000414
Clitoral hypertrophy
Enlarged clitoris
0008665
Ectopic kidney
Abnormal kidney location
Displaced kidney
[ more ] 		0000086
Horseshoe kidney
Horseshoe kidneys
0000085
Labial hypoplasia
Underdeveloped labia
0000066
Renal agenesis
Absent kidney
Missing kidney
[ more ] 		0000104
Renal insufficiency
Renal failure
Renal failure in adulthood
[ more ] 		0000083
Telecanthus
Corners of eye widely separated
0000506
Thin upper lip vermilion
Thin upper lip
0000219
Vesicoureteral reflux 0000076
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 ] 		0000431
5%-29% of people have these symptoms
Abnormality of the pinna
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears
[ more ] 		0000377
Aortic regurgitation 0001659
Craniosynostosis 0001363
Eyelid coloboma
Cleft eyelid
Notched eyelid
[ more ] 		0000625
Hypoplasia of the radius
Underdeveloped outer large forearm bone
0002984
Macular dystrophy 0007754
Mitral atresia 0011560
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] 		0000545
Pulmonary artery stenosis
Narrowing of lung artery
0004415
Seizure 0001250
Syringomyelia
Fluid-filled cyst in spinal cord
0003396
1%-4% of people have these symptoms
Low-set ears
Low set ears
Lowset ears
[ more ] 		0000369
Percent of people who have these symptoms is not available through HPO
Anal stenosis
Narrowing of anal opening
0002025
Bicuspid aortic valve
Aortic valve has two leaflets rather than three
0001647
Broad forehead
Increased width of the forehead
Wide forehead
[ more ] 		0000337
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 ] 		0000455
Duane anomaly 0009921
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation
[ more ] 		0001511
Narrow nose
Decreased nasal breadth
Decreased nasal width
Thin nose
[ more ] 		0000460
Pelvic kidney 0000125
Peripheral pulmonary artery stenosis
Narrowing of peripheral lung artery
0004969
Rectovaginal fistula
Abnormal connection between rectum and vagina
0000143
Small for gestational age
Birth weight less than 10th percentile
Low birth weight
[ more ] 		0001518
Spina bifida occulta 0003298
X-linked dominant inheritance 0001423
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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

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

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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  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.