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]
^ abCite error: The named reference GARD was invoked but never defined (see the help page).
^ abZarate, 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. 167 (8). Wiley: 1940–1943. doi:10.1002/ajmg.a.37078. ISSN 1552-4825.
^ abcBedeschi, Maria F.; Giangiobbe, Sara; Paganini, Leda; Tabano, Silvia; Silipigni, Rosamaria; Colombo, Lorenzo; Crippa, Beatrice L.; Lalatta, Faustina; Guerneri, Silvana; Miozzo, Monica (October 31, 2017). "STAR syndrome plus: The first description of a female patient with the lethal form". American Journal of Medical Genetics Part A. 173 (12). Wiley: 3226–3230. doi:10.1002/ajmg.a.38484. ISSN 1552-4825.
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