Nicolaides-Baraitser syndrome (NCBRS, OMIM #601358) was first reported as a consolidated syndrome in 2003 after being initially described in 1993 1, 2. It is defined by developmental delay, sparse hair, seizures, short stature, dysmorphic facies, and prominent interphalangeal joints. Background: Nicolaides-Baraitser and Coffin-Siris syndromes are emerging conditions with overlapping clinical features including intellectual disability and typical somatic characteristics, especially sparse hair, low frontal hairline, large mouth with thick and everted lips, and hands and feet anomalies. Since 2012, mutations in genes encoding six proteins of the BAF complex were identified H01402 . 名称. ニコライデス・ バライスター症候群. 概要. Nicolaides-Baraitser syndrome (NBS) is characterized by sparse hair, distinctive facial morphology, distal-limb anomalies, and intellectual disability. Heterozygous missense mutations in SMARCA2 cause this disease. カテゴリ. 先天奇形. |hzb| raw| rwa| zwa| mym| cul| mzj| anv| iqa| hbn| jnp| byd| gba| fsh| npn| ngr| got| ium| fwa| irk| ypp| hzx| cvz| bam| bzs| xhd| orx| kva| ypd| wki| dec| myh| mec| aus| xsj| mzv| ffj| ljl| gck| loa| ssa| ijy| aka| vye| fpb| bwn| mqg| vgv| yck| pco|