Less reliable signs of the syndrome include anteverted nostrils, a wide mouth, and an elongated neck.
2.
Features of Stickler syndrome type II include : sensorineural hearing loss, facial features ( flat facial profile, anteverted nares, micrognathia ), cleft palate, visual disturbances ( type 2 vitreous anomaly, childhood-onset myopia, glaucoma, cataracts and retinal detachment ), spondyloepiphyseal dysplasia, and arthropathy.
3.
Dr . Matthew Bainbridge has identified a de novo truncating mutation in ASXL3 ( KIAA1713 ) that is plausibly causative for a patient presenting with intellectual disability, global developmental delay, hypotonia, psychomotor retardation, childhood apraxia of speech ( non verbal ), strabismus, stereotypic behaviors, feeding difficulties, severe reflux, short nose with anteverted nares, low set ears, and a prominent forehead.
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