Orphanet: Autosomal dominant myopia midfacial retrusion sensorineural hearing loss rhizomelic dysplasia syndrome

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Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome

Disease definition

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.

ORPHA:440354

Classification level: Disorder

Synonym(s):
- Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome
Prevalence: <1 / 1 000 000
Inheritance: Autosomal dominant
Age of onset: Antenatal, Neonatal
ICD-10: Q87.5
OMIM: -
UMLS: -
MeSH: -
GARD: -
MedDRA: -

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Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome

ORPHA:440354

A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020)

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