An autosomal dominant form of Robinow Syndrome exists and is rare.
Chromosomes and genes involved:
(1) 3p14.3: protein Wnt-5a (WNT5A)
(2) 1p36.33: segment polarity protein dishevelled homolog DVL-1 (DLV1)
Inheritance: autosomal dominant
Clinical features:
(1) short to normal stature
(2) mesomelic limb shortening
(3) brachydactyly
(4) hypoplastic genitalia (micropenis, hypoplastic scrotum, hypoplastic clitoris, hypoplastic labia majora)
(5) cryptorchidism in male
(6) widely spaced and prominent eyes
(7) frontal bossing with high anterior hairline
(8) depressed and/or wide nasal bridge
(9) short nose with anteverted nares and/or broad nasal tip
(10) long philtrum
(11) midface retrusion
(12) low-set ears
(13) dental anomalies (crowding, malocclusion, hypodontia, alveolar ridge deformation)
(14) bilobed tongue
(15) cleft lip and/or palate
(16) congenital heart defects
(17) skeletal anomalies (radial head dislocation, scoliois, vertebral anomalies)
(18) nail dysplasia
(19) renal anomalies
(20) variable cognitive delay
(21) variable osteosclerosis and hearing loss (with DVL-1 mutation)
