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disease: Atelosteogenesis type 1

id462
nameAtelosteogenesis type 1
descriptionThe FLNB-related disorders include a spectrum of phenotypes ranging from mild (spondylocarpotarsal synostosis [SCT] syndrome and Larsen syndrome) to severe (atelosteogenesis types I [AOI] and III [AOIII], boomerang dysplasia). SCT syndrome is characterized by disproportionate short stature, block vertebrae, scoliosis and lordosis, carpal and tarsal fusion, club feet, hearing loss, dental enamel hypoplasia, and mild facial dysmorphisms. Larsen syndrome is characterized by congenital dislocations of the hip, knee, and elbow; club feet (equinovarus or equinovalgus foot deformities); scoliosis and cervical kyphosis, which can be associated with a cervical myelopathy; short, broad, spatulate distal phalanges; and distinctive craniofacies (prominent forehead, depressed nasal bridge, malar flattening, and widely spaced eyes). Both can have midline cleft palate and conductive hearing loss. AOIII and AOI are characterized by severe short-limbed dwarfism; dislocated hips, knees, and elbows; and club feet. AOI is lethal in the perinatal period.
variant-disease NM_001457.4(FLNB):c.608A>C (p.Gln203Pro) AND Atelosteogenesis type 1
NM_001457.4(FLNB):c.518C>T (p.Ala173Val) AND Atelosteogenesis type 1
NM_001457.4(FLNB):c.549C>G (p.Cys183Trp) AND Atelosteogenesis type 1
NM_001457.4(FLNB):c.517G>A (p.Ala173Thr) AND Atelosteogenesis type 1
NM_001457.4(FLNB):c.542G>T (p.Gly181Val) AND Atelosteogenesis type 1
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