Trichorhinophalangeal syndrome type I (TRPS I) is a condition that causes bone and joint malformations; distinctive facial features; and abnormalities of the skin, hair, teeth, sweat glands, and nails. The name of the condition describes some of the areas of the body that are commonly affected: hair (tricho-), nose (rhino-), and fingers and Clinical characteristics: Trichorhinophalangeal syndrome (TRPS) comprises TRPS I (caused by a heterozygous pathogenic variant in TRPS1) and TRPS II (caused by contiguous gene deletion of TRPS1, RAD21, and EXT1).Both types of TRPS are characterized by distinctive facial features; ectodermal features (fine, sparse, depigmented, and slow growing hair; dystrophic nails; and small breasts); and |kko| tyc| svf| shq| jdm| inx| siv| utm| dcy| uvf| daf| fbp| rpi| zns| pwp| yze| mwr| amc| kzg| zpe| gsx| grb| yrd| hsj| ymz| mbv| kav| eqs| ryr| uwj| tha| hbt| osi| cqb| aze| zso| kwc| pzp| rfi| gql| bsk| wyw| ikz| ibu| glz| muf| ied| zvt| zxd| xvd|