Spondyloepiphyseal dysplasia, MacDermot type

Orpha code: 163668OMIM code: 184000

Definition

Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness.

Disease data
Classification

Malformation syndrome

Synonyms
Spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome
Spondyloepiphyseal dysplasia - myopia - sensorineural deafness
Spondyloepiphyseal dysplasia-myopia-sensorineural hearing loss syndrome
ORPHA code
163668
OMIM code
184000
ICD10 code
Q77.7
ICD11 code
LD24.3

No additional description.

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