Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
Synonyms: Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome
A rare primary bone dysplasia characterized by micromelia with rhizomelic shortening metaphyseal widening of the long bones brachydactyly small scapulae micrognathia and thoracic insufficiency requiring tracheostomy and ventilation and severe myopia and sensorineural hearing loss. Further dysmorphic craniofacial features include frontal bossing proptosis epicanthal folds short nose flat nasal bridge anteverted nares midfacial retrusion and cleft palate.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome?
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