Summary
Robinow syndrome is a combination of morphological anomalies. The main features consist of characteristic facies (large forehead with frontal bossing, flat facial profile, small upturned nose, hypertetorism etc.), mesomelic shortening of the forearms, brachydactyly and hypoplastic genitalia. Intelligence is usually normal but delayed mental development was noted in about 18% of cases. This syndrome is rare, but over 120 cases have been reported. It was first described as an autosomal dominant disorder but recessive and sporadic cases have been reported. The aetiology of the dominant form remains unknown but mutations in the receptor tyrosine kinase-like orphan receptor 2(ROR2) gene have been discovered to be the cause of the recessive form. Prenatal diagnosis is possible using fetal ultrasound. There is no curative treatment, but multidisciplinary management must be adapted to each patient (orthopaedic, paediatric, genetic counselling etc.). The prognosis is variable and depends on the signs present. It is better for dominant forms than recessive forms: in the dominant forms facial anomalies often become less marked with time, the adult height is normal to borderline, puberty takes place spontaneously in both boys and girls, and normal fertility has been reported in some patients. *Author: Orphanet (February 2005)*.
