Pes planus and severe arthritis may occur. Hypermobility of the elbow joint is common. Degenerative arthritis of the elbow and knee joints and shortness of the ulnar bones may occur. Occasional lordosis and scoliosis. Pubic and axillary hair is usually scant.
Eyebrows are thick medially and sparse laterally.
Koilonychia and leukonychia are the main defects of the nails. Congenital heart defects may include floppy mitral valve. Recurrent upper respiratory tract infections and cyanotic attacks due to glossoptosis. Variable growth retardation is a constant feature. The syndrome is listed in OMIM in both autosomal recessive and dominant catalogs.