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Start free with EleplanSpondyloepiphyseal dysplasia, MacDermot type
ORPHA:163668Malformation syndrome
Also called Spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome · Spondyloepiphyseal dysplasia-myopia-sensorineural hearing loss syndrome
What it is
A rare spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes including lumbar lordosis and platyspondyly and sensorineural deafness. Adult-onset myopia and retinal detachment have been reported in some patients. Additional clinical features may include clinodactyly, pes planus and prominent heel. There have been no further descriptions in the literature since 1987.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal dominant
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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