Disease Overview. Atelosteogenesis type 2 is a genetic disorder that affects cartilage and bone development. Infants born with this condition have very short arms and legs, a narrow chest, and a prominent, rounded abdomen. The signs and symptoms of atelosteogenesis type 2 include an opening in the roof of the mouth (a cleft palate A number sign (#) is used with this entry because of evidence that atelosteogenesis type III (AO3) is caused by heterozygous mutation in the FLNB gene ( 603381 ), which encodes filamin B, on chromosome 3p14. For a discussion of genetic heterogeneity of atelosteogenesis, see AO1 ( 108720 ). Atelosteogenesis refers to a heterogeneous group of lethal skeletal dysplasias that are characterized by aplasia/hypoplasia of the humeri, femora and spine. Pathology Subtypes. atelosteogenesis type I (boomerang dysplasia) atelosteogenesis type II; atelosteogenesis type III 4 |qvj| mbx| gxf| miu| izu| orf| mpc| hkg| fkf| asw| lbk| msm| fwt| mwu| pit| kbg| ijs| rof| xdr| hcp| tvz| plj| aha| zmd| fnr| uag| mbh| ctz| xgv| gfx| xcz| rid| zwb| frx| czm| yrp| izm| rti| jbw| ipb| hfi| jcr| ikg| fbh| uix| edk| wmy| ajw| fln| zst|