Chitayat syndrome is a rare condition characterized by bilateral hand hyperphalangism resulting in shortening and ulnar deviation of the index and sometimes third fingers, hallux valgus, mild facial dysmorphism and respiratory complications presenting from birth. A recurrent ERF gene variant has been linked to this disease.
Balasubramanian M, Lord H, Levesque S, Guturu H, Thuriot F, Sillon G, Wenger AM, Sureka DL, Lester T, Johnson DS, Bowen J, Calhoun AR, Viskochil DH, Bejerano G, Bernstein JA, Chitayat D
タイトル
Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene.
Suter AA, Santos-Simarro F, Toerring PM, Abad Perez A, Ramos-Mejia R, Heath KE, Huckstadt V, Parron-Pajares M, Mensah MA, Hulsemann W, Holtgrewe M, Mundlos S, Kornak U, Bartsch O, Ehmke N
タイトル
Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.
