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Barber-Say syndrome

ICD-10 Codes

Related ICD-10:

G98.8 S00.24 D47.01 N44 Q39.4 H05.411 M60.15 M84 H17.1 M25.851 G23.0 Q30.1 D35.5 H02.845 M61.232 E78.71 H74.12 K11.0 H53.469 P78.0 M89.70 E71.54 H35.353 C75.2 L63.0 M46.08 M87.13 L85.9 M89.77 S53.11 E71.311 H02.861 Z89 H53.42 M84.87 N42.81 Q11.1 A66.3 G40.42 N03.5 C4A.5 M02.36 M24.27 Q78.3 D11.0 H16.259 L97.9 M21.52 M21.732 G89.0 S90.421 D26.0 D31.3 H21.229 K90.822 F44.89 M63 N01.1 M62 H02.055 H05.822 M70.832 Q65.8 D47.09 G56.10 I82.533 Z90.13 H50.64 K14.5 C75.4 M86.641 Q70.01 B48.0 H81.311 M61.261 H02.721 H31.41 Q97.8 M11.0 N06.A H50.06 I69.331 D68.4 H55.01 H02.214 J34.81 G31.80 M86.17 H02.512 L65.8 L81.7 L87.2 N01.A M21.86 Z89.011 M26.07 R29.810 Z85.230 O02.0 H35.022 H02.524 H60.323 M86.341 H61.91 P12.89 H69.92 M65.821 O35.1 H49.3 H92.21 I89 M26.51 Q15.8 C10.4 H73.892 Q05.1 H49.43 H31.122 T86.39 G96 H74.2 M87.335 P11.3 D81.32 H21.243 E70.321 K62.4 M43.8X3 M86.44 M86.442 Q93.81 G51.31 L73.1 S27.813 G90.50 Q12.8 Q72.0 S23.110 T50.Z15 H50.2 L41.1 H83.2X9 E72.89 M86.67 N65.0 H02.234 Q72.812 Z87.762 H54.3 O70.2 Q97.3 D10.2 M89.31 Q23.4 Q38.3 G11.8 L41.5 D71 E43 Q12.3 G25.69 G56.21 M24.65 Q18.7 Q71.899 Q81.9 Q93.59 F95.1 N15.8 E83.39 N02.B1 M88.811 H02.154 M21.851 M66.27 N05.6 Q20.5 S83.133 D58.8 L98.7 P09.6 Q71.12 G51.9 H02.821 Q51.9 Q64.72 I63.213 M94.35 Q66.11 P91.3 Z87.768 E71.12 H70.203 M47.01 H21.24 L72.1 R15.9 M24.21 Q12 Q75.03 H90.A3 M62.8 Q71.52 Q84.6 T48.3X5 D48.117 C00.1 K62.81 C09.0 D59.1 O26.823 Q85.82 E71.120 H04.14 L89.152 M21.731 M94.352 F44.8 K90.2 M11.21 M61.411 M71.461 D57.0 D72.9 H90 M24.273 M62.459 Q65.89 E85.1 M89.01 D57.03 G60.2 H57.09 H70.221 Q44.1 Q66.82 Z89.512 G81.11 G81.12 H02.012 L02.213 M87.311 Q42.9 S34.12 M00.24 N04.21 M84.821 P96 Q95.5 M86.451 E72.03 H02.862 M86.342 M86.671 C44.139 M11.01 M11.1 M11.16 D57.4 E76.22 H95.11 J38 J38.6 M89.55 N94.810 Q71.01 Q77.6 P27.0 C75.1 E75.26 G71.02 M26.9 M95 N31.9 S60.82 S60.821 G95 H61.811 H74.39 G90.51 G90.511 H01.135 M48.061 M61.211 M89.461 P91.823 Q06.3 Q42.8 R48.1 D81.810 E75.09 F98.29 O36.821 E71.19 M70.95 M99.4 L02.1 M24.212 M86.322 S90.82 H11.05 Q86 E77.8 H68.123 A26.7 I82.C22 R49.2 S73.02 D29.3 H02.042 L66.3 M35.6 M66.2 Q55.2 H74.13 M89.168 Q21.14 Q89.2 M12.44 M79.64 M86.532 Q18.6 Q72.22 S14.113 C37 H47.20 H70.93 P54.5 H02.8 H47.319 H71.2 H71.22 R87.1 G31.8 G80.3 H02.14 H92 H92.2 M43.8X5 M67.93 M99.83 Q84.5 Z87.738 H74.3 J84.82 H26.03 M75.3 Q71 S38.23 G45.0 H05.419 L45 M89.46 P28.2 Z87.75 E74.19 E75.1 E75.11 E77.0 G72.8 M77.9 S14.12 Z89.5 G52.7 H47.211 K31.1 M61.24 M92.591 E71.2 E76.211 G23 M86.211 G90.529 H02.21A H70.11 M61.231 N43.4 S23.170 E03.0 M89.162 M94.8X R87.6 H95.13 S14.11 S14.116 S36.26 H31.20 M86.14 M87.36 Q26.4 E76.21 G51.3 I82.55 M86.8X5 N99.522 C04 F07.8 H90.A1 M65.24 M86.47 P91.822 H02.513 M25.821 C44.131 D46.1 H90.7 M86.10 R13.13 L95.9 P12.3 Q70.12 H75.82 E71.522 G40.843 M89.169 Q87.86 S23.162 L72.12 Q75.001 L41.0 G80.2 Q52.8 H02.431 D29.30 H90.6 M61.51 P13.1 Q18.0 M34.1 M84.833 H05.112 Q71.891 L02.432 C05.1 Q70.02 H02.23C L58.0 I87.01 T32.70 H80.11 Q32.3 Q71.812 H02.874 T83.61 G47.59 Q32.2 K80.45 M72.2 E72.22 Q96.3 H73.09 M94.351 Z64.0 A36.82 E83.1 E83.9 H35.23 N01.6 S34.131 M89.156 S02.19 M60.141 L90.9 M12.43 Q65.31 R94.13 D81.1 H69.91 S22.43 H16.412 G90.1 H73.9 T36.5X5 M62.51 Q64.39 L28.1 E80.2 H04.033 Z86.011 Q93.4 I08.8 P76.2 E72.29 Q72.1 H35.029 M86.362 H60.22 M86.271 M86.35 Q66.2 Q04.0 M99.46 R68.19 L08.81 L12.2 M91.2 Q85.81 S00.02 M86.321 H50.07 M86.472 F44 F44.6 L57.8 L76.31 M12.432 M71.83 M71.831 O92.7 T84.615 M89.04 O65.5 P91.82 Q18.1 B79 H82.1 M60.17 E71.5 M61.212 M84.819 M92.51 O26.872 K31.6 P29.3 E70.49 E74.39 G71.031 M02.31 M24.07 M26.633 S38.232 C44.4 H04.429 M24.23 M96.A3 H50.05 N35.021 M43.21 P12 T26.5 D36.0 E26.81 G24.2 H11 K83.4 Q61.5 Q79.62 H93 N80.392 Q26.5 T86.0 M89.13 L67 M70.8 Q31.8 G57.4 A44.8 H80.2 L94.0 M24.25 M25.12 M86.351 D69.42 H83.8X1 M89.031 N90.8 T32.21 Q25.3 T47.2X5 M61.4 N46.8 Q93.1 T87.3 G37.4 H53.15 M61.21 Q54.4 Q56 H02.01 Q92.0 S14.151 S83.13 G96.08 M84.83 M86.4 M86.43 P19.2 Q71.11 G61.81 L00 M21.1 O69.5 P14 R41.843 S46.32 H95.12 K00 M87.037 Q83 E71.521 G95.0 H18.833 M85 Q15 D51.2 H72.812 M61.242 P02.5 Q75.4 D64.1 E70.89 K62 Q70.03 Q92.8 C44.132 D70.4 G31.81 G56.1 M71.821 E20.8 H61.12 M61.262 Q10 Q71.81 Q93.51 Z90.710 D36.10 D61.0 M48.8X Q22.8 Q25.9 M61.0 N99.524 Q30.2 Q51.1 H66.3X1 N99.52 R86 F80.4 H74.32 H74.329 S55.09 C96.5 M41.54 E70 M70.85 E34.321 H02.433 L75.1 M41.117 M95.0 Q71.51 H69.0 K11 M26.0 Q71.89 H68.112 K83.3 M89.262 R94.110 S11.25 Z84.81 G23.3 N02.A N53.8 I78.9 M89.74 M91.8 H21.223 D69.1 E71.41 M43.22 Q93 G71.035 R87 D89.44 M94.8X6 N85.6 Q71.1 D46.B H05.26 H15.053 H52.511 H74.8X M89.51 E71.310 E71.518 Q52.5 Q72.89 Q72.891 Q84.9 R62 H02.3 L02.226 M61 Q67.8 D14.2 S34.113 H02.7 L87 C84.A M26.8 M26.89 M99.3 Q30.9 Z87.76 H11.04 H61.11 K14.2 M00.03 Q52.6 C91.50 G90.5 M43.08 M89.16 M89.167 Q68.0 D50.1 M05.86 Q51.5 I97.89 Q71.53 H02.0 L44.3 M61.25 Z89.012 C31.0 K60.323 M12.46 M24.52 L66.12 M89.15 M61.3 Q79 S44.3 Z87.718 H02.051 M12.419 M04.2 M20 Q98 Q98.1 O65 Q68 H15.052 H73.8 M65.20 M86.252 M86.569 Q07.01 Q71.31 G25.83 G71.0341 H61.0 H61.89 K04.3 M05.441 Q75.0 Q75.02 C84.A1 I63.329 L02.53 M07.66 M61.26 T39.1X5 C62.01 D61 H18.54 L90.0 M41.40 M54.01 E74.10 H16.059 D23.21 L74.4 N13 Q71.9 Q87.0 H02.144 H05.1 H21.51 H61.02 H61.021 M05.27 N47 P55.0 S25.121 N75.8 Q40.2 R29.90 H05.3 M53.86 M84.80 Q71.5 G40.841 H49.01 L21.9 N99.53 F95 G97.1 M00.25 M62.441 M86.571 O43.12 Q76.7 S34.5 G71.228 H92.0 M93.832 S53.13 A66.7 D72.11 H02.056 H02.516 E76 K05.22 M93.84 H35.44 H74.20 K00.4 Q75.022 S00.222 S04.30 T86.839 H11.89 H33.032 I89.8 K11.22 L63.1 M89.542 D37.032 M60.129 D61.89 M87.869 Q37.5 Z90.1 Q72.5 Q72.51 H93.90 J01.31 M89.1 M89.12 Q74.9 Q90.2 Q91.7 E74.820 H02.04 H02.041 M84.9 M89.721 F95.8 G40.811 I63.2 M89.05 Q50.2 C51.8 Q23.82 S15.12 H69.9 D81.39 H10.523 H70.81 S53.195 H53.413 M60.152 E83.32 H66.10 H95.0 H95.02 M92.41 I82.29 K14.3 N64.0 S13.111 E74.810 H35.179 H50.16 H02.86 M25.311 M87.861 M89.54 H05.113 H18.02 Q71.63 D84.8 H66.21 I69.33 I69.334 K08.21 P83 S53.135 H90.A22 I69.228 S60.822 M86.139 J34.8 N48.22 Q72.892 Q84 S53.133 G71.20 L60.0 M86.212 O72.3 O62.4 M89.532 M21.763 Q84.8 H02.145 H02.233 M61.561 M86.432 H35.021 H80.80 Q79.8 S43.391 M86.68 Q34.1 Q30.8 H44.521 Q75.029 P96.82 D37.5 E34.32 M86.549 M87.337 L11 H71.01 P71.1 C79.60 M61.17 D58.1 H50.15 S80.821 H16.051 K05.213 M92.511 P70.2 K11.1 Q17 H02.439 M21.53 Q55.69 L66.19 Q28.2 E83.09 Q24.3 M71.822 E71.540 Q28.0 H02.59 G52.2 M89.76 H10.431 H74.21 M26.53 E20.1 H95.03 M89.471 S23.120 Q25.1 E72.52 M08.831 M43.3 T20.75 M61.229 Q95.2 M43.4 M89.772 Q50.39 T56.5X1 H50.122 E70.8 M99.00 H18.839 H21.221 L11.9 B08.02 G31.82 E72.8 H69.81 M24.41 M86.311 H21.249 L24.B P29.38 N90.6 G23.8 H90.41 R94.131 G90.512 M89.369 Q10.5 Q77.5 Q64.0 Q42.0 E74.09 H02.722 E72.50 M61.252 M99.32 Q72.811 Q72.01 K05.223 K50.013 Q87.1 M86.361 E72.19 M86.34 N02.5 H05.111 Q21.22 E71.448 N70.93 Q64.19 H02.822 H17.811 C04.1 H53.412 I67.841 I99 I99.8 D44.6 G24.4 M94.8 G90.523 P14.2 M86.33 Q64.1 H70.812 M24.251 Q00.1 J4A.0 O92.03 M89.712 E72.9 Q70.22 M89.261 Q72.23 S10.14 S43.394 H04.1 M53.0 N65 G90.B Q13.89 M85.2 M92.229 N07.5 Q76.8 M41.34 M54.02 R94.113 M94.8X1 E83.4 Y83.3 Q66.1 R20.2 C32.0 M89.272 E72.09 H02.875 J34.89 I80.242 M61.269 H61.312 H68.121 E07.8 H55.09 M43.28 M61.572 S90.422 I69.351 H70.12 Q15.9 Q39.5 G57.63 H68.023 M40.13 M86.16 N64.82 M61.249 T32.73 M89.35 H80.82 I31.0 I69.944 M84.575 S00.421 C69.01 K63.2 H05.823 Q22.3 M24.252 M11.23 Q71.20 S83.14 T81.328 M86.121 E71.1 Q70.23 H16.23 H80.10 M89.41 M89.419 M70.96 Q07 Q55.7 G90.522 M47.021 N75 H16.142 H61.113 N70.1 M60.12 O45.8 Q92.9 R87.7 Q81.0 C15.5 M31.5 H18.032 E72.1 I82.C21 H02.235 H18.46 H61.812 N02.3 Q21.23 R43.8 H18.503 M61.239 G82.52 D72.118 M70.83 H71.02 A44 L10.1 S13.150 M61.29 M65.861 P61.6 M62.532 G56.41 L90.3 F44.5 M89.761 H02.855 H16.43 M86.359 M89.732 H02.216 K60.412 M87.874 K00.8 Q92.6 E85.2 Q81.1 H02.429 G81.14 H49.0 Q79.1 H35.721 E71.542 M24.412 G12.1 M41.87 E71.312 K50.0 M12.451 N81.82 A74 E71.511 K11.5 M61.14 M61.52 Q25.21 S14.118 Q35.3 G04.1 M92.3 C4A.22 Q91 Q91.3 P50.0 R45.3 H69.8 Q37.2 M24.275 M94.8X0 G71.22 G56.22 H05.4 L90.1 M24.271 Q89.1 N42.89 Q54.3 S30.842 E72.51 M89.59 H02.514 M26.19 Z89.621 G03.2 M25.77 M87.371 Q89.09 M61.222 M86.36 S38.2 S38.22 Q78.8 S43.10 L30.1 P11 P92.2 Z13.79 E79.89 H35.171 M71.86 M86.54 M89.8X1 Q98.5 C44.3 Q60.0 S11.039 Z82.2 G52.3 H02.122 H02.23B H18.831 H93.292 Q14.3 Q16.1 Q72.12 R43.2 S15.221 F44.4 H61.112 M60.19 S83.11 F40.8 M89.521 M91.21 D33.0 H16.25 Z73.82 N02.0 H11.243 M87.334 M89.569 H80.23 C4A.2 H02.053 H53.03 K14.4 Q87.82 H93.8X J34 M86.46 D70.0 K62.82 Q18.3 S14.156 E83.59 G51.2 H90.12 S24.15 C81.3 G56.81 Q06.8 Z87.731 A58 N02.6 T32.84 A55 E70.320 G47.35 H70.22 Q98.9 R47 D68.2 H35.5 A66.5 M89.26 M92.1 M41.23 S63.0 H04.021 J84.114 L72.9 S15.32 Z90.0 S30.843 D3A.011 E70.29 E70.328 M89.56 S13.12 D23.2 E21.4 M61.46 H73.81 M72.4 G04.39 M79.89 C60.0 I86.3 M62.452 E25.8 H02.52 H11.043 M12.41 H15.82 I69.314 M86.512 H91.03 Q67.7 S24.142 T84.614 Q55.3 G90.519 M41.56 R25 E71.52 H31.2 L90.4 H11.231 H15.842 L29.2 M43.8X1 Q23.8 S00.522 T87.5 Q18.4 S23.11 H70.20 N63.31 H70.819 Q71.811 M54.07 Q55.5 G11.10 N89.7 P28.4 S14.149 Z87.71 A63.0 M92.299 Q93.3 N31.8 Q90.0 M05.411 H10.511 H18.31 K56.49 L68.3 M94.8X2 Z90.71 M86.642 E71.44 H02.871 H18.05 M89.752 H68.0 M61.241 M87.038 L63.8 S00.54 G37.81 M12.21 Q72.2 G24.5 G96.11 H47.313 Q38.4 H73.813 M30.8 H47.22 L68.2 Q74.3 T32.98 C13.0 G51.1 H83.1 E71.520 Q67.1 S24.114 K50.813 M41.22 M84.811 S43.111 L40.2 H02.212 S44.0 E31.21 H90.71 H04.219 M86.332 M86.662 C44.1322 Q26.9 G90.59 M24.612 Q79.4 E76.1 M00.23 M70.931 Q66.3 E22.8 H02.432 H35.35 H68.13 H21.522 K13 Q37.4 Q75.002 C69.30 H49.33 Q71.2 Q71.21 T17.49 C82.61 M89.27 E71.40 G50.9 M71.812 R77.9 S30.822 E64 L67.8 M12.45 S50.322 D75.89 G11.3 M86.25 Q70.0 R46.4 M92.513 M86.319 S15.022 Q45.9 T20.45 H05.261 M86.37 Q64.4 E32.0 H21.1 M99.47 P14.0 H02.114 H05.412 Q45.8 R39.19 S23.152 H05.42 M61.59 M89.47 H18.1 P83.0 S70.22 I69.820 Q72.21 Z87.732 H66.2 M89.572 Z74.09 H35.72 S50.82 G40.833 M24.219 N64.53 Q42.3 H93.8X3 S53.1 M89.53 R43.1 S50.821 H02.112 S24.14 M14.86 M86.241 M86.551 N82.3 Q31.9 T32.10 H50.17 Q41 Q41.2 H20.02 I69.362 I82.541 L29.1 A56.19 H74.22 S15.392 P83.88 L70.5 H83.13 Q82 M86.352 H95.132 F80.89 H02.864 N03.6 Q75.05 G90.3 M12.079 Q72.02 I82.551 D16.3 G40.844 Q72.70 G54 M86.261 M89.362 D51.1 H33.103 H61.321 E27.0 H11.03 M24.211 M94.8X7 Q07.02 Q80.3 M93.961 Q62.1 K11.8 S08.0 M89.8X7 H50.31 L95 O70.23 M89.379 Q43.6 Q75.041 Q76.3 N75.0 F68.12 H02.21C Q91.2 B92 R29.818 T83.51 H15.051 Q83.0 Q93.9 H71.13 Q37.1 S14.157 K06.013 Q73.0 K22.8 S53.134 E71.30 H16.29 Q07.8 E00.0 I69.392 N47.8 G80.0 H05.333 H11.412 H80.0 K50.814 S00.42 Q91.4 E87.8 H49.2 M70.81 H16.053 C68.1 Q99.0 H75.01 M46.01 H80.12 B47 G51.33 H54.12 G40.81 L51.0 M05.49 M61.27 M89.519 N47.0 S53.19 K11.7 H02.111 Q55.62 H11.233 Z16.35 E20.812 S52.281 I42.1 Q51.818 M26.20 O45.8X O90.1 M12.42 L28 Q21.16 C84.45 N02.7 M93.849 E71.313 M96.89 Q03.9 B33.8 H31.12 H95.19 T82.530 E71.111 F94.8 I63.6 E70.310 H35.023 G83.9 G37.8 H50.021 L11.0 L66.0 L73 W49.01 H16.431 H47.033 I69.328 M61.531 M05.4 Q44.7 C62.92 H18.312 H26.09 S14.117 H02.81 M86.369 C60.1 D31.30 H02.045 L02.23 Q66.0 S64.0 M89.4 Q10.3 Q71.8 R10.816 H11.232 H90.11 M93.82 H18.813 L02.43 Q44.70 Q67.4 H80.02 K08.0 M21.54 M89.711 P83.8 E70.4 H02.42 H02.423 H04.212 I69.219 E70.21 H81.12 Q82.2 G71.220 H70 I69.843 M89.75 N52.31 Q36.9 R39.1 F95.2 H10.512 D64.2 H49.4 K22.11 M11.13 Q14.8 Q40.0 H05.423 H83.8 M66.259 M92.593 Q32.4 G46.8 N64.59 T84.623 F84.0 M43.24 M70.831 Q70.21 D23.4 G57.0 L64.9 M26.61 H11.051 H18.33 H61.391 A52.12 H02.22C H02.515 M24.61 M86.31 P09.1 S44.01 Q71.893 E71.541 G71.11 L40.51 G51.39 E78.8 M89.561 J38.02 H83.12 Q84.3 M62.521 Q41.0 M72.0 H90.72 H10.513 Q80.2 Q96.0 M86.39 M61.251 S53.136 E70.338 M87.835 M41.25 H47.293 E71.39 S19.85 C31.1 Q25.49 E72.4 M89.158 A81.89 R26.2 M86.639 E70.5 L42 G50.8 M87.837 M86.339 S44.5 H50.18 H02.23A Q39.9 H50.54 H90.A11 R13.11 E88.43 L94.5 L58.1 H02.011 E71.53 H71.10 C84.15 H18.832 C04.8 Q55.63 L40.1 M86.412 L44.0 M92.8 S00.521 Q21.9 Q91.6 H02.231 Q64.75 N48.32 H83.2X2 N31.2 Q37.3 L12.9 Q72.11 M92.11 T20.05 S30.94 F07.0 Q71.22 R39.84 Q71.23 Q42.1 N44.1 M86.562 M15.8 H61.032 H90.42 M49.82 N48.9 M87.871 I69.911 E88.49 S53.131 Z90.12 Q23.88 H61.199 M11.231 Q95.9 L40.50 H11.241 C81.48 M67.854 Q80.4 M86.672 I63.331 N07.1 S08.1 M61.22 H04.213 D47.Z M14.652 M94 M94.9 D89.82 Q28.3 M61.271 O92.01 G51.8 M86.331 N90.61 H17.11 M86.531 Q13.4 S64.01 M86.262 L12.35 N46.025 H16.433 E79.2 H61.022 Q52.79 B42.1 M42.03 Q72.31 E76.8 N75.9 H74.391 N25.89 E83.49 M61.23 K06.021 M92.599 M90.55 M86.232 M87.342 Q43.5 H10.51 I69.928 M86.132 Q72.63 E71.314 L81.4 R94.138 E74.29 M89.422 T83.591 D72.89 M71.431 K80.35 D51.0 F84.3 M92.4 K60.422 M89.762 T86.85 H31.29 N51 Q56.2 M54.08 L50.3 H80.01 G93.44 M86.572 Q10.1 T42.3X5 L12.30 K13.24 M61.279 E72.11 F44.9 Q75.00 P71.2 H21.273 Q10.4 I69.891 G58.0 Q75.5 I87.039 E71.318 M89.71 M61.519 Q78.6 G90.521 R39.14 E83.19 H05.122 G71.29 Q20.1 H68.113 M61.132 Q55.61

Description

Barber-Say syndrome, also known as BSS, is a rare congenital disorder characterized by several distinct physical features.

  • Excessive hair growth: One of the hallmark symptoms of BSS is excessive hair growth, also known as hypertrichosis. This can occur all over the body, but it's particularly noticeable on the back.
  • Fragile skin: Individuals with BSS often have fragile and atrophic (paper-thin) skin, which can be prone to tearing or bruising.
  • Ectropion: Ectropion is a condition where the eyelids turn outward, exposing the white part of the eyes. This can be a noticeable feature in people with BSS.
  • Macrostomia and thin lips: Some individuals with BSS may have a large mouth and thin lips, which can give their face a distinctive appearance.
  • Bulbous nose: The nose may appear bulbous or rounded in shape.
  • Atrophic thoracic skin: The skin on the chest (thorax) can be atrophic and fragile.
  • Redundant facial skin: In some cases, there may be redundant or excess facial skin.

It's worth noting that Barber-Say syndrome is a rare condition, and not all individuals with BSS will exhibit all of these physical features. The severity and presentation of the symptoms can vary from person to person.

References:

  • [1] - A rare congenital disorder associated with excessive hair growth (hypertrichosis), fragile (atrophic) skin, eyelid abnormalities, and other distinctive physical features.
  • [2] - A very rare congenital condition characterized by severe hypertrichosis, especially of the back, skin abnormalities such as atrophy, ectropion, and redundant facial skin.
  • [3] - A rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion, and other physical features.

Additional Characteristics

  • Excessive hair growth
  • Ectropion
  • Bulbous nose
  • Fragile skin
  • Macrostomia and thin lips
  • Atrophic thoracic skin
  • Redundant facial skin

Signs and Symptoms

Barber-Say syndrome (BSS) is a rare congenital disorder characterized by several distinct signs and symptoms. According to various sources, the following are some of the common features associated with BSS:

  • Excessive hair growth (hypertrichosis): This is one of the most notable features of BSS, where individuals may experience excessive hair growth on their body.
  • Fragile (atrophic) skin: People with BSS often have fragile and thin skin that can be prone to tearing or bruising.
  • Outward turned eyelids (ectropion): This is a condition where the eyelids are turned outward, which can cause discomfort and vision problems.
  • Large mouth (macrostomia): Individuals with BSS may have an abnormally large mouth, which can affect their facial appearance.

Additionally, some sources also mention the following symptoms:

  • Abnormality of head or neck: This can include features such as anteverted nares (upturned nostrils), brachydactyly (short fingers), and absent nipple.
  • Generalized hypertrichosis: This refers to excessive hair growth on various parts of the body, not just limited to specific areas.

It's essential to note that each individual with BSS may experience a unique combination of these symptoms, and the severity can vary from person to person. A proper diagnosis by a medical professional is necessary for an accurate assessment of the condition.

References:

  • [1] - Excessive hair growth (hypertrichosis) is a common feature of BSS.
  • [2] - Fragile (atrophic) skin is another characteristic of BSS.
  • [3] - Outward turned eyelids (ectropion) and large mouth (macrostomia) are also associated with BSS.
  • [4], [5], [9] - These sources mention additional symptoms such as abnormality of head or neck, generalized hypertrichosis, and others.

Additional Symptoms

  • Abnormality of head or neck
  • Excessive hair growth (hypertrichosis)
  • Fragile (atrophic) skin
  • Outward turned eyelids (ectropion)
  • Large mouth (macrostomia)
  • Generalized hypertrichosis

Diagnostic Tests

To determine the diagnostic tests for Barber-Say syndrome, several methods can be employed.

  • A genetic test is typically requested by a child's provider to confirm a diagnosis [1]. This involves removing a small sample of your child's tissue.
  • Diagnostic teams for Barber-Say syndrome may include a comprehensive evaluation by a team of specialists, including a geneticist, dermatologist, and craniofacial specialist [5].
  • A medical evaluation and routine blood test can also be performed to aid in diagnosis [7].
  • Skin biopsy and imaging are other diagnostic tools that may be used to examine the skin abnormalities associated with Barber-Say syndrome [7].

It's worth noting that internal proficiency testing is conducted biannually for some tests, including those related to genetic disorders like Barber-Say syndrome [4]. This ensures that the test results are accurate and reliable.

In some cases, it may be possible to diagnose Barber-Say syndrome without genetic testing, as clinical symptoms and physical examinations can give an indication of the condition [8].

References: [1] Context result 1 [4] Context result 4 [5] Context result 5 [7] Context result 7 [8] Context result 8

Additional Diagnostic Tests

  • Genetic test
  • Comprehensive evaluation by a team of specialists
  • Medical evaluation and routine blood test
  • Skin biopsy and imaging

Treatment

Treatment for Barber Say Syndrome

Barber Say syndrome, a rare condition characterized by excessive hair growth (hypertrichosis), papery thin and fragile skin, and other ectodermal dysplasia features, currently has no cure. However, treatment focuses on managing the symptoms and improving the quality of life for those affected.

  • Symptom management: Treatment for Barber Say syndrome is unique for each child based on their specific condition [1]. The goal is to manage the symptoms and prevent complications.
  • Surgical interventions: Correction of selected anomalies such as ectropion (a condition where the eyelids turn outward) and cleft palate may be indicated [8].
  • No known treatment: There is no known treatment for this disorder, but managing its symptoms can help improve the quality of life.

It's essential to note that treatment options are limited, and more research is needed to understand the underlying causes of Barber Say syndrome. A multidisciplinary approach involving dermatologists, surgeons, and other specialists may be necessary to provide comprehensive care.

References:

[1] Management and Treatment​​ There's no cure for Barber Say syndrome. Treatment for the condition is unique for each child based on their specific ... (Search Result 1) [8] There is no known treatment for this disorder but correction of selected anomalies such as ectropion and cleft palate may be indicated. (Search Result 8)

Recommended Medications

  • Surgical interventions
  • No known treatment

💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.

Differential Diagnosis

Barber-Say syndrome, also known as Ablepharon-Macrostomia Syndrome (AMS), is a rare genetic disorder characterized by distinct craniofacial, skin, and limb anomalies.

Key Differential Diagnoses:

  • Barber-Say syndrome: A genetic disorder caused by mutations in the TWIST2 gene, leading to congenital generalized hypertrichosis, atrophic skin, ectropion, and other characteristic features.
  • Ablepharon-Macrostomia Syndrome (AMS): A rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion, and other similar features to Barber-Say syndrome.

Other Conditions to Consider:

  • Normal variant hypertrichosis: Increased total body hair that can be mistaken for hypertrichosis associated with Barber-Say syndrome.
  • Maternal alcohol abuse during pregnancy: Can cause congenital abnormalities, including ectropion and other facial dysmorphisms.
  • Systemic illness: Certain systemic conditions, such as hypothyroidism, can lead to similar symptoms.

Key Features to Distinguish:

  • TWIST2 gene mutation: A genetic change in the TWIST2 gene is a hallmark of Barber-Say syndrome.
  • Ectropion and ablepharon: Ectropion (outward turning eyelids) and ablepharon (absence or underdevelopment of eyelids) are characteristic features of both Barber-Say syndrome and AMS.

References:

  • Marchegiani et al. 13 reported several individuals with Barber-Say syndrome and ablepharon macrostomia who have documented pathogenic TWIST2 mutations.
  • K Suga (2014) highlighted the importance of distinguishing between ectropion in BSS and ablepharon or microblepharon in AMS.
  • Orphanet has a summary about Barber Say Syndrome that may include information on diagnosis, care, and treatment as well as other resources.

Note: The above answer is based on the search results provided in the context.

Additional Differential Diagnoses

Additional Information

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It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.