Synonyms: hereditary osteoonychodysplasia (HOOD), Fong disease, Turner-Kieser syndrome, Osterreichr-Turner syndrome
Chromosome location: 9q34
Gene affected: LMX1B
Inheritance: autosomal dominant
Clinical features:
(1) nail dystrophy with triangular lunulae
(2) absent or hypoplastic patellae with dislocation
(3) iliac horns
(4) elbow abnormalities (posterior dislocation of radial head, flexion contracture)
(5) nephropathy with progressive renal impairment
(6) increased risk of glaucoma
(7) abnormal muscle distribution in upper arms
(8) epilepsy
(9) neurological and/or vasomotor abnormalities (Raynaud's) in distal extremities
(10) talipes
(11) dental problems (fragile teeth, thin enamel)
(12) alopecia and fine hair
(13) finger abnormalities (swan necking, decreased flexion of distal interphalangeal joints)
(14) back pain
(15) pectus excavatum
(16) Lester's sign of the iris (zone of darker pigmentation around the central part of the iris)