Sheldon-Hall Syndrome

Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.

Epidemiology

Epidemiological data for the prevalence of SHS are not available, but less than 100 cases have been reported in the literature.

Clinical description

Other common clinical features of SHS include prominent nasolabial folds, high arched palate, attached earlobes, mild cervical webbing, short stature, severe camptodactyly, ulnar deviation, and vertical talus and/or talipes equinovarus. Typically, the contractures are most severe at birth and non-progressive.

Etiology

Mutations in either MYH3, TNNI2, or TNNT3 have been found in about 50% of cases. These genes encode proteins of the contractile apparatus of fast twitch skeletal muscle fibers.

Diagnostic methods

The diagnosis of SHS is based on clinical criteria.

Differential diagnosis

Mutation analysis is useful to distinguish SHS from arthrogryposis syndromes with similar features (e.g. distal arthrogryposis 1 and Freeman-Sheldon syndrome; see these terms).

Antenatal diagnosis

Prenatal diagnosis by ultrasonography is feasible at 18-24 weeks of gestation. If the family history is positive and the mutation is known in the family, prenatal molecular genetic diagnosis is possible.

Genetic counseling

SHS is inherited in an autosomal dominant pattern but about half the cases are sporadic.

Management and treatment

There is no specific therapy for SHS. However, patients benefit from early intervention with occupational and physical therapy, serial casting, and/or surgery.

Prognosis

Life expectancy and cognitive abilities are normal.