Search for a rare disease
Other search option(s)
Spondyloepiphyseal dysplasia tarda, Kohn type
Disease definition
Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit.
ORPHA:163665
Classification level: DisorderSummary
Epidemiology
The syndrome has been described in three daughters born to healthy consanguineous parents.
Clinical description
The skeletal disorder usually manifests in late childhood. Typical radiographical features include platyspondyly, abnormal lumbar vertebrae and degenerative large joint changes.
Genetic counseling
Autosomal recessive transmission has been suggested.
A summary on this disease is available in Deutsch (2009) Español (2009) Français (2009) Italiano (2009) Nederlands (2009) Português (2009)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.