Little syndrome (nail-patella syndrome; hereditary osteo-onycho-dysplasia; hood syndrome)

General: Inherited as autosomal dominant; affects males and females equally.

Ocular: Hypertelorism; ptosis; epicanthus; 525d38f microcornea; keratoconus; sclerocornea; cataract; microphakia; light pigmentation of iris root with dark pigmented 'clover-leaf' spots, referred to as the Lester line, not seen in all cases.

Clinical: Absent or hypoplastic patella; hypoplastic or dislocated head of radius; exostosis of skull bones; bilateral horns of iliac crests; longitudinal ridging of fingernails; glomerulonephritis; renal involvement; bilateral antecubital pterygia; arthrogryposis; disorder has been mapped to the long arm of chromosome 9; sensorineural hearing loss.

Campeau E, et al. Linkage analysis of the nail-patella syndrome. Am J Hum Genet 1995; 56:243-247.

Chan PC, et al. Living-related renal transtation in a patient with nail-patella syndrome. Nephron 1988; 50: 164-l66.

Fenske HD, Spitalny LA. Hereditary osteo-onychodysplasia. Am J Ophthalmol 1970; 70:604.

Flickinger RR, Spivey BE. Lester's line in hereditary osteo-onychodysplasia. Arch Ophthalmol 1969; 82:700.

Guidera KJ, et al. Nail-patella syndrome: a review of 44 orthopaedic patients. J Pediatr Orthop 1991; 1:737-742.

Hussain SS, Hope GA. Sensorineural hearing loss and nail patella syndrome. Arch Otolaryngol Head Neck Surg 1994; 120:674-675.

Little EM. Congenital absence or delayed development of the patella. Lancet II 1897:781-784.

Rizzo R, et al. Familial bilateral antecubital pterygia with severe renal involvement in nail-patella syndrome. Clin Genet 1993; 44:1-7.

Yakish SD, Fu FH. Long-term follow-up of the treatment of a family with nail-patella syndrome. J Pediatr Orthop 1983; 3:360-363.