Medicine:STAR syndrome
| STAR syndrome | |
|---|---|
| Other names | Syndactyly with renal and anogenital malformation |
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| Diagram showing X-linked dominant inheritance scenarios for the mother being affected | |
| Specialty | Genetics |
| Symptoms | Syndactyly, telecanthus, anogenital malformations, renal malformations, and short stature[1] |
| Usual onset | Birth[1] |
| Diagnostic method | Clinical features and genetic testing[2] |
| Differential diagnosis | VATER syndrome[2] |
| Frequency | Fewer than 100 documented cases[3] |
STAR syndrome is an extremely rare X-linked dominant syndrome that is caused by single FAM58A gene point mutations or deletions of FAM58A and its flanking genes.[3]
STAR syndrome is distinguished by a variety of facial dysmorphisms and malformations outlined by its acronym, Syndactyly Telecanthus Anogenital malformations Renal malformations.[3]
Signs and symptoms
The name STAR stands for the syndrome's primary signs and symptoms:[1]
Syndactyly Telecanthus Anogenital malformations Renal malformations.
Other bone abnormalities, hearing loss, epilepsy, retinal abnormalities, syringomyelia, tethered spinal cord, and several other birth defects have been documented in STAR syndrome.[4]
Ocular signs include telecanthus and eyelid abnormalities, as well as peripheral anterior synechiae in the anterior segment. Retinal findings such as macular drusen and macular hypoplasia have also been identified.[5]
Causes
STAR syndrome is caused by either point mutations or deletions of the FAM58A gene, which is located on chromosome Xq28. This gene encodes Cyclin M, a Cyclin-dependent kinase 10 (CDK10) binding partner. The Cyclin M/CDK10 interactions regulate the division of cells and development by suppressing ETS2-driven MAPK pathway activation. Cyclin M/CDK10 interaction has been demonstrated to be defective in STAR syndrome patients. The abnormalities of the FAM58A gene in STAR syndrome suggest that it is X-linked dominant. Since STAR syndrome has only been observed in female patients it is most likely lethal in males.[3]
References
- ↑ 1.0 1.1 1.2 "Syndactyly-telecanthus-anogenital and renal malformations syndrome — About the Disease". January 8, 2021. https://rarediseases.info.nih.gov/diseases/10295/syndactyly-telecanthus-anogenital-and-renal-malformations-syndrome.
- ↑ 2.0 2.1 Zarate, Yuri A.; Farrell, Jessica M.; Alfaro, Maria P.; Elhassan, Nahed O. (April 6, 2015). "STAR syndrome is part of the differential diagnosis of females with anorectal malformations". American Journal of Medical Genetics Part A (Wiley) 167 (8): 1940–1943. doi:10.1002/ajmg.a.37078. ISSN 1552-4825.
- ↑ 3.0 3.1 3.2 3.3 Bedeschi, Maria F.; Giangiobbe, Sara; Paganini, Leda; Tabano, Silvia; Silipigni, Rosamaria; Colombo, Lorenzo; Crippa, Beatrice L.; Lalatta, Faustina et al. (October 31, 2017). "STAR syndrome plus: The first description of a female patient with the lethal form". American Journal of Medical Genetics Part A (Wiley) 173 (12): 3226–3230. doi:10.1002/ajmg.a.38484. ISSN 1552-4825.
- ↑ "STAR syndrome — National Organization for Rare Disorders". June 16, 2022. https://rarediseases.org/gard-rare-disease/star-syndrome/.
- ↑ Li, Alexa L.; Borooah, Shyamanga; Nudleman, Eric (2022). "Multimodal imaging of retinal findings in syndactyly, telecanthus, anogenital, and renal malformations (STAR) syndrome". American Journal of Ophthalmology Case Reports (Elsevier BV) 25: 101284. doi:10.1016/j.ajoc.2022.101284. ISSN 2451-9936.
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