Scholte Syndrome

Clinical Features

Scholte et al. (1991) described a 25-year-old man with severe mental retardation, early balding, facial dysmorphism, patella luxations, acromicria, and hypogonadism. Fryns et al. (1993) described 2 unrelated males who appeared to have the same syndrome. Profound mental retardation, early balding, muscular hypotrophy, small patellae, small hands and feet, and hypogonadism were features. Fryns et al. (1993) raised the possibility that the patella luxations might be secondary to peripheral muscular hypotrophy, which in turn might be due to a myopathic process. Chromosome analysis showed normal karyotype.

Vandersteen and Hennekam (2010) reported 2 brothers with moderate to severe mental retardation, short stature, an unusual skull shape, early anterior balding, unusual facial morphology, hypogonadotropic hypogonadism with small genitalia, and small patellae. Facial dysmorphism was similar in both brothers, including a high anterior hairline, small and upslanting palpebral fissures, deeply set eyes, broad nasal tip, and everted lower lip. The proband had generalized hypotonia without focal neurologic abnormalities or myotonia, whereas his older brother had epilepsy and died at age 8 years during a seizure. Examination of the proband at age 30 years showed dolichocephaly, anterior balding that had been noted at age 25, and a telangiectatic rash on his cheeks. He had small hands and feet, as well as mildly small patellae by x-ray. His karyotype was 46,XY and array CGH showed no chromosomal imbalance. Vandersteen and Hennekam (2010) noted that the phenotype in the brothers resembled that of the patients reported by Scholte et al. (1991) and Fryns et al. (1993).

Inheritance

Vandersteen and Hennekam (2010) suggested that Scholte syndrome follows an X-linked recessive pattern of inheritance because all reported patients were male, including 2 brothers; none of the parents were consanguineous; cytogenetic studies failed to show abnormalities; and X inactivation was completely skewed in 1 of the mothers.

Molecular Genetics

Exclusion Studies

In a patient with Scholte syndrome, Vandersteen and Hennekam (2010) found normal results from molecular testing of PQBP1 (300463) and FRAXA (see 309550).