‐linked Dominant Syndrome Identified in Two Generations: A Case Report Amy Rabatin (Mayo Clinic, Rochester, MN, United States); Sheri Driscoll

Disclosures: Amy Rabatin: Nothing to disclose

Case Description: A 7-year-old girl presented for follow up and evaluation of right foot callus in the setting of bilateral 4th/5th toe syndactyly. Birth history was significant for c-section at 38 weeks with Apgars of 7 and 9. Physical findings at time of birth significant for bilateral syndactyly of 4th/5th toes, short lingual frenulum, anal atresia with rectovaginal fistula, ectopic kidneys and hydronephrosis. A deep, non-communicating sacral dimple was also appreciated, with tethered cord. Mother and sister had similar facial features, hearing loss, anal atresia, toe syndactyly, and learning disabilities. Sister also had tethered cord. Initial genetic work up was unrevealing; however STAR syndrome was suspected, but was unclear given findings of tethered cord and hearing loss. STAR syndrome was confirmed on whole genome sequencing.

Setting: Outpatient Clinic

Patient: 7-year-old girl

Assessment/Results: Her foot callus was secondary to foot deformity possibly secondary to tethered cord, as well as syndactyly. She was fitted for custom foot bed orthosis for off-loading. Multidisciplinary therapy services were instrumental in her gross, fine motor, speech and cognitive development in the setting of medical complexity and multiple surgeries. She is running, jumping, and performing self-cares independently.

Discussion: STAR syndrome, a rare (estimated 1:1,000,000) X‐linked dominant developmental disorder, is characterized by syndactyly, telecanthus, anogenital, and renal malformations. There are 13 reported female cases. No male live births have been reported, as it is presumed lethal. Based on this mother-daughter trio, tethered cord and hearing loss are now features of STAR syndrome.

Conclusion: Previously described genetic syndromes may change based on phenotypic expansion in the setting of advancing genetic testing, which may inform or change patient diagnoses. Regardless, a multidisciplinary rehabilitation approach is important to promote function in patients with medical complexity.

Level of Evidence: Level V

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