Atkin-Flaitz Syndrome

Clinical Features

Atkin et al. (1985) reported a 3-generation family with 11 moderately to severely retarded males and 3 mildly retarded females. Phenotypic manifestations included short stature, macrocephaly, 'coarse' facial features with prominent forehead and supraorbital ridges, hypertelorism, broad nasal tip with anteverted nostrils, and thick lips. All postpubertal males had macroorchidism, and moderate obesity was noted in 6 males and all 3 women. All but one of the affected family members had a diastema between the maxillary central incisors. Although noting similarities, the authors distinguished the syndrome from Coffin-Lowry syndrome (CLS; 303600) and fragile X syndrome (FXS; 300624).

Clark and Baraitser (1987) and Baraitser et al. (1995) described patients with mental retardation who shared many features with the patients described by Atkin et al. (1985); see 300602. The distinguishing features were short stature and hypertelorism in the patients reported by Atkin et al. (1985).