<unk>  is an autosomal dominant disease characterized by<unk>  and musculoskeletal problems along with<unk>  and eye problems.
Osteochondrodysplatic dwarfism -- deafness -- retinitis pigmentosa
Cholestasis -- pigmentary retinopathy -- cleft palate
Osteoporosis -- oculocutaneous -- hypopigmentation syndrome
Brachydactyly - arterial hypertension
Anophthalmia-short stature-obesity
Acral dysostosis - dyserythropoiesis
Renal tubulopathy-diabetes mellitus-cerebellar ataxia
Distichiasis - heart and vasculature anomalies - sinus bradycardia