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An extremely rare disorder characterized by mental retardation, distinctive mouth, obesity, and hypogonadism.

Chudley-Lowry-Hoar Syndrome; Chudley Syndrome I.

Extremely rare genetic disorder (fewer than 10 cases have been described) with expression only in male children. X-linked recessive inheritance with the gene locus between Xp21 and Xq26.

Moderate-to-severe mental retardation, short stature, mild obesity, hypogonadism (often also cryptorchidism), single palmar crease, and a low total finger ridge count. The distinctive face is characterized by microcephaly with bitemporal narrowness, almond-shaped palpebral fissures, depressed nasal bridge, anteverted nares, short and inverted V-shaped upper lip, high arched palate, and macrostomia.

Cooperation may be difficult because of mental retardation. Sedative and/or anxiolytic premedication and/or the presence of the primary caregiver during induction of anesthesia may be beneficial. Assess airway for difficult management. The large tongue may cause airway obstruction or make tracheal intubation difficult. Venous access may be difficult because of obesity.

Prader-Labhart-Willi Syndrome: An inherited disorder characterized by muscular hypotonia, early childhood-onset obesity, hypogonadism, and mental retardation.

Chudley AE, Lowry RB, Hoar DI; Mental retardation, distinct facial changes, short stature, obesity, and hypogonadism: A new x-linked mental retardation syndrome. Am J Med Genet 31:741, 1988.  [PubMed: 3239563]

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