<unk>  is marked by corneal anesthesia, absence of the peripapillary choriocapillaris and retinal pigment epithelium, bilateral sensorineural hearing loss, unusual facial appearance, persistent ductus arteriosus, Hirschsprung disease, and moderate intellectual disability. It appears to be a distinct autosomal dominant syndrome with variable expressivity. As of 2008 this syndrome has only been reported in five individuals within three generations of the same family; two young children, their mother, their uncle and their maternal grandmother. This most recent generation to be diagnosed with<unk>  supports the hypothesis that this disease is a distinct autosomal dominant disorder. If this syndrome could be identified in other families it may help to discriminate the gene responsible.
Ramos-Arroyo syndrome
Jackson–Weiss syndrome
Adams–Nance syndrome
Waltman Walter syndrome
Howel–Evans syndrome
Muir–Torre syndrome
Löffler's syndrome
Trotter's syndrome