Kyfoskoliotisk Ehlers-Danlos' syndrom (FKBP14 mutasjon)
Engelsk navn: Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
Engelske synonym: Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and deafness,Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and hearing loss,FKBP14-related EDS,FKBP22-deficient EDS,Kyphoscoliotic EDS due to FKBP22 deficiency,kEDS-FKBP14
Definisjon
A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include congenital hearing impairment (sensorineural, conductive, or mixed), follicular hyperkeratosis, muscle atrophy, and bladder diverticula. Molecular testing is obligatory to confirm the diagnosis.
Fra Orphanet
ORPHA: 300179
Klassifiseringsnivå: Subtype of disorder
ICD-10: Q79.6
