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Bowen-Conradi syndrome

ICD-10 Codes

Related ICD-10:

L97.911 C69.8 G37.3 T21.37 T39.1X5 C62.01 D23.121 H18.54 H21.271 M41.40 O71.6 C51 C81.39 C92.30 E74.1 E74.10 H16.05 H18.319 M89.21 M89.522 R87.8 S34.11 C50.212 I69.36 M87.88 M96.8 A41.02 D35.1 D3A.023 D48.7 E32.8 E55 H47.42 H61.02 H61.021 I80.221 L87.8 M05.27 Q63 B78.0 D43 D43.1 D47.9 M02.0 M02.35 Q61.19 C05.8 D14.32 M24.55 A54.89 G40.84 M87.338 N80.3 N99.53 Q73 H11.05 H35.0 I82.B21 O91.01 T85.828 D23 D81.8 E77.8 H68.123 Q86.1 T82.8 A67.0 G61.0 I82.C22 K76 N99.521 O86 T83.714 C41 D05.8 H02.042 K85.12 L66.3 M46.89 N02.4 N49.0 R13 C57.9 C7A.8 K13.4 L81.5 M61.219 Q21.14 T32.6 T32.62 Z22.340 C61 D19.0 H18.13 L90 M12.44 M86.612 M87.875 O23.51 S14.113 N80.221 J85.3 N60.41 P23.1 S14.118 N82.2 C4A.52 H11.423 C44.222 M92.3 N17.1 Q50 C4A.22 A51.9 D32.9 Q91 Q91.3 S37.50 B95 P50.0 A52.05 H11.212 C25.9 M94.8X0 S20.329 G71.22 H11.213 C56.3 M48.24 Z12.8 K12.3 M11.26 Q89.1 H21.353 M07.64 M65.279 Q25.29 S19.82 O29.3 Q20.8 R87.623 K50.1 S36.490 C50.512 M86.341 E34.09 O35.1 N61 H33.03 H49.43 H60.54 A56 S25.19 M86.62 M93.831 T85.73 T85.733 H21.243 H51.1 E70.321 K62.4 M86.441 M86.519 M89.231 C50.8 M42.15 M43.8X3 Q93.81 Z83.710 G51.31 G90.50 M34.82 N39.8 T56.811 Z16.22 C79.89 L41.1 S22.23 N65.0 A36.8 Z87.762 M86.329 D23.12 C78.6 D10.2 Q23.4 L41.5 D31.02 K59.3 M14.831 Q51.6 E43 M46.25 M24.65 Q71.899 Q76.6 Q92.7 C96.4 D44.9 D49.89 S50.82 T32.52 D43.9 D46.Z M61.11 M89.562 Q27.0 Q87.89 A18.39 H93.8X3 S43.2 S53.1 C40.81 C50.1 H30.14 O41.8X1 Z90.411 G63 I87.391 O43.2 T85.71 C32.3 K60 N80.511 C44.29 D29.20 D48.114 I82.B22 L89.94 M86.551 N80.3A9 H18.3 M21.859 C50.5 H75.00 K82.8 M86.20 C69.92 C77.4 M86.272 Z85.54 K71.1 M71.13 A05.5 Q82 M1A.48 M86.352 G04 K92.8 K92.89 N13.8 T32.53 T84.622 G98 Z86.001 M25.36 C53 G04.02 Q93.7 T85.731 I87.031 M84 N35.813 H11.422 H17.1 R87.61 G23.0 K83.8 M86.649 Z85.82 C02.4 C13.1 D35.5 I31 C65 M61.232 T86.858 D05.9 H33.33 M85.669 M87.838 C50.31 D12.4 H10.43 H35.173 L89.214 P78 P38.1 C69.52 E21 E71.54 M27.1 Q51.828 C44.39 C75.2 K05.01 L85.9 M89.77 Q44.3 E71.311 C53.0 H31.12 H95.19 M71.4 C84.10 E71.111 I63.6 S83.12 N60.49 C34.92 D61.01 E53.0 G73.1 P71.8 G52.1 G64 L11.0 M61.47 N73.8 H16.431 M26.2 M67.81 G83.8 M53.88 M61.531 M86.231 O30.021 C69.6 H35.22 H95.8 I80.25 M71.14 M89.539 Q43.7 Q44.7 A50.49 C67.2 D00.04 H02.11 H18.312 L97.223 Q99 S37.492 T56.3X4 I69.251 M71.45 M71.451 S36.69 D30.12 G71.033 K31.A0 A42.2 H02.872 M47.898 Q51.82 Q71.8 Z87.61 C62.9 H66.3X2 H90.11 M19.21 M86.8X9 M93.82 N80.34 A54.0 C00.4 H18.81 K08.0 M89.711 S34.2 B38.3 E70.4 I69.219 O85 T32.72 C72.3 N82.4 S43.08 T83.590 C62 C7A.1 C81.4A O30.022 O30.891 Q63.3 Q82.2 T32.44 I69.843 M89.75 N52.31 R39.1 S24.154 C13.9 D64.2 K22.11 K68 N32.2 Q14.8 H30.023 M66.259 M91.8 B08.6 E70.1 H21.223 M86.42 O08.89 M89.06 T82.3 Z79.633 D38.3 D39.1 F07 H80.90 P78.83 B42.8 C31.2 H11.21 N02.8 A88.8 C50.011 D46.B H05.26 H74.8X M89.51 E71.310 E71.518 Q51.10 Q72.891 T32.32 B42.7 K95.0 L53.9 M61 Q34 D37.9 P50.1 T85.735 Z86.007 C34.0 C4A.9 D14.2 D15.0 N27.1 R41.8 S34.113 C44.81 E75.6 G11.4 L87.1 D05.11 E56 B94 D30.01 H02.516 O91.03 K05.222 S24.11 T80.219 E52 S00.222 T86.839 H11.89 H33.032 K11.2 M07.63 M89.542 N48.21 C74.01 D37.032 E72.20 H21.222 I27.2 M43.27 C86.6 J43.1 Z90.1 B38.2 J70.0 L10.81 M61.9 Q72.5 C50.911 C70.0 K31.2 K61 O43.1 R84.6 T32.63 T32.71 C34.9 C79.2 H18.52 O26.84 E74.820 M89.721 N80.512 E16 M62.47 O43 Q50.2 C37 H61.01 K80.31 M27 R19.37 S15.091 S35.09 S55.0 H05.243 H15.823 H65.3 M53.2X C79.6 G31.8 M99.83 Q91.5 C78.1 D01.4 D89.42 H04.03 M00.059 O07.31 T86.298 Z80.43 C44.2 E70.40 R83.3 C63.8 C78 H35.063 M70 N76.3 O26.4 Z87.75 Z96.0 C72.32 E74.19 E75.11 I67.850 Q61.00 C72 C72.1 K51.814 M61.24 M92.59 M92.591 D41.01 E76.211 L56.8 M84.550 M86.211 O71 Q79.5 S12.65 T39.1X1 G72 K22.71 M93.1 T86.820 K94.12 L89.012 M61.231 S23.170 D37.03 H11.413 M94.8X R87.6 C50.82 C50.821 D13.5 I82.291 C05.2 C69.0 H11.13 H11.133 M87.36 Q76.413 G51.32 I42.5 K08.26 M71.432 O14.1 C04 N48.6 N60.2 R93.813 C72.59 L57 L57.8 O92.7 C81.78 K63.829 M70.03 M89.04 O65.5 Q86.0 E71.528 I65.03 M60.17 T50.8X5 B97.7 E71.5 M61.212 M92.51 R19.1 C69.31 H02.511 H16.432 H30 K31.6 M89.452 S20.10 C31 C40 C69.00 E07 L81 M02.31 O43.21 C44.4 M24.23 M85.62 M96.A3 O41.12 M11.08 P09.2 I82.5Y L91.9 D36.0 H11 H11.4 S90.52 C86.3 H11.123 K86.89 E75.29 L89.013 M46.1 N77 P93.8 E07.0 H44.5 K56.691 M99.7 T32.97 C4A.122 H71.12 M46.2 M87.339 N80.4 S14 H68 H68.1 M11.27 M86.351 A65 C7A.0 E75 H83.8X1 I78 M05.5 M89.03 N04.29 Q75.8 Z86.0 C44.52 C52 C92.2 D12 G90.2 H31.8 I31.39 C21 M12.01 M61.4 Q93.1 S25.399 C44.201 M61.2 C4A.112 D39.8 H02.01 Q74.2 Q92.0 S83.135 M84.83 M86.43 M86.52 M86.529 S30.827 A04.7 B57.31 D81.819 P14 S85.18 D33.1 M61.1 O43.92 Q83 D41.00 S32.008 D30.2 H11.1 H11.11 M60.1 O45.01 D02.1 E50.3 H69.9 H70.1 H70.13 L57.5 L89.814 M07.61 M84.561 N80.122 C50.619 E05.2 H10.523 I69.951 R39.82 S53.195 M60.152 T38.2X5 C44.390 H53.43 H66.10 H95.0 J45.990 J84.81 I73.89 K31.819 N64.0 C79.49 E74.810 G96.198 H21.253 H35.179 M86.22 D31.92 F52.2 H11.242 H35.17 M89.54 Q06 H05.113 I82.221 L89.44 P83 T86.30 T86.33 C50.811 H90.A2 M67.9 Q70.2 Q38.5 C44.599 J34.8 L95.8 M02.84 M85.8 N34.1 Q72.892 T57.1X2 C96.0 D14.31 Q51.11 C20 C57.11 D06.9 M61.222 M71.31 M86.36 S38.2 S53.194 A50.41 D80.0 Q78 Q78.8 C44.1321 D38.1 L30.1 M46.98 M60.122 M99.1 M49.85 T34.81 E79.89 H35.171 M50.12 D29.21 D3A.021 E31.20 I69.192 T32.33 G52.3 H02.23B H18.831 K13.29 S20.12 S20.122 S34.121 O29.5 R43 D33.7 I65.21 I69.833 K60.522 E83.118 M05.45 M89.521 Q20 D33.0 G57.22 H05.32 T57.2 Z85.48 N02.0 Q40 Z87.790 C60.8 H11.243 K51.811 M89.569 Q93.89 H95.88 M86.239 N35.814 S53.192 C4A.2 H53.133 I69.359 M41.4 Q87.82 T82.09 Z80.4 E88.09 J34 L89.513 M86.46 D70.0 I82.53 N80.C3 D61.03 G51.2 G71.032 H90.1 L89.131 Q68.3 Z85.41 H11.82 I80.252 Q06.8 Z85.23 A58 C79.51 H47.3 A55 H18.009 H93.A N80.3A3 Q71.892 Q98.9 M86.221 T32.55 C04.9 C50.021 C55 D47 N80.3B3 C44.109 J84.83 M92.1 H05.323 K60.411 J70.3 M93.869 S60.829 T84.61 C34.1 D07.3 S30.843 S90.521 T18.190 T32.88 E70.29 K60.42 M60.111 M89.5 D09.19 D23.2 H44.421 K12 M61.46 M87.85 M87.851 N80.223 Q43 T17.91 C50.51 M92.593 D24.9 H90.0 T32.50 T84.623 H18.603 J92.0 T32.82 H16.143 M26.61 T57.2X1 C63.01 M93.87 T32.64 K13.6 K60.52 L68.1 L87.0 M62.50 S40.221 C54.8 H02.515 K12.33 Q25.7 E76.1 I87.333 M00.2 T32.66 D09.21 H35.35 N13.3 D44.0 H30.03 T22.361 T32.60 C47.6 C53.8 T17.49 T71.23 E88.41 Z85.858 J96.02 M96.662 M87.343 S00.82 S30.822 C71.7 I80.243 K31.8 M12.45 P25.8 A50.56 D04.5 M86.25 M93.221 R46.4 K91.858 O26.822 Z85.118 C09.8 C17.2 D30.1 H61.023 Q78.5 A63 H11.419 M26.72 N04.22 D05.81 G71.19 E26.01 H21.1 A51.1 C05 C74.10 N05.A D09.10 H05.412 M87.374 Q45.8 E75.248 H05.42 L59 S22.4 C7A.01 M61.031 L03.32 P83.0 H11.439 L03.129 H59.099 M87.071 N80.353 C17.9 E72 M89.572 D00.02 G25.3 H35.72 O86.12 C4A.20 M72.2 E72.22 L89.024 Q75.08 T86.20 M94.351 M89.160 M42.07 G57.70 S34.131 H15.853 K05.313 M86.56 Q64.79 R94.13 K60.413 M67.833 M89.511 Q54.8 S27.50 C72.41 H35.172 Q51.7 J63.0 H04.033 Z86.011 Q93.4 M00.032 H66.12 E72.29 M86.362 C34.8 C96.20 N61.23 C57.10 Q75.1 M86.35 C50.019 A42.1 H95.139 H16.443 L10.89 D00.03 S34.122 L03.321 M25.739 M60.162 M86.321 H04.812 M87.180 N02.B4 S23.132 C62.00 Q79.60 T50.A95 C71.3 M86.672 N03.1 D76.2 H44.393 C34.3 M61.22 M93.871 C17.8 C40.32 M94 M94.9 C50.0 H33.033 B88.2 D89.82 I82.543 D48.118 M31.2 L89.011 C50.129 D07.6 M90.572 R86.6 B36.0 K80.44 O88.83 L89.609 M42.16 M61.271 N63.32 M86.331 Q32.1 Z15.03 C47.3 T32.65 D15.1 D00.1 M96.5 H18.51 A52.19 L12.35 R87.820 K38.8 E50.1 H80.10 J95.03 M86.8X0 M89.41 O41.123 Q07 G90.522 K76.5 M94.8X4 N60.19 N70.1 N70.11 T85.591 C50.4 H30.123 M60.12 N86 H18.469 O45.8 R76.1 H73.893 H18.7 M43.8X8 Z00.71 E72.1 S30.821 K92 L66.4 C81.43 H21 H61.812 N02.3 N15.9 C44.13 H18.503 M61.239 T81.42 C69.51 A42.82 C49.3 C4A.61 H71.02 M48.062 M94.8X8 H83.8X I87.331 M61.29 B38.4 H60.20 M90.559 M24.222 M61.552 H11.823 M67.49 M99.71 D01.5 L90.3 Z86.71 M62.479 M89.761 T57.1 D31.4 H16.43 I69.09 M89.732 K60.412 M84.861 C11.1 C24.8 C25 C86.30 H11.149 C51.0 E85.2 Q81.1 C15.3 Y62.4 M61.49 E85.0 M89.163 C72.40 D04.9 H15.811 T80.810 C50.412 C69.61 K94.20 D35.3 E71.542 T80.A1 Y83.4 C76.2 E32 H59.092 T56.3X E71.312 A74 C53.1 N05.2 M86.172 M86.65 E83.39 H18.719 Q62.61 D80.5 Q31.2 T80.21 H72.813 R84.4 L98.7 E70.2 L89.512 C34.32 M88.821 A31.1 Q64.72 E76.29 M94.35 S34.123 Z87.768 E71.128 M62.412 M65.822 S34.01 M47.01 M47.011 D3A.020 H21.24 S37.32 G55 Q12 Q12.1 N03.6 C50.311 C71.9 M86.149 Z87.760 C57.02 C44.399 D16.3 J39 E74.05 L41.4 C77.8 D51.1 H83.2X3 E74.829 M46.0 M61.512 T32.61 Q80.3 D37.6 L59.8 K11.8 C67.8 C4A.7 L95 M60.172 O70.23 R83.6 H51.8 S34.111 J96.9 K50.114 H60.543 M61.122 M93.879 O35.10 M21.959 E68 F68.12 H02.21C T37.0X5 B92 H18.71 H18.713 M26.63 Q04.8 C54.3 H15.051 L26 S19.84 M25.871 Q83.0 M11.2 M24.28 M67.959 M96.A1 O43.213 C38.3 P09.3 M84.539 C7A.096 I75.8 T84.51 H04.003 M89.252 C79.4 S22.42 C10.0 C84.A C84.A8 I08.1 I69.95 I69.959 J63.2 M25.373 M61.451 M99.3 P77 T57.1X4 Z87.76 H11.04 H71.21 K14 N80.3B Q52.6 B02.29 C10 C84.A9 H18.039 M86.651 M89.16 Q13 A70 Q51.5 T32.11 A52.76 B46.1 H18.45 H18.452 H40.02 M21.832 M25.8 M86.122 Q72.4 T65.3X2 C44.30 C44.309 H02.519 H16.293 I80.232 L44.3 M61.25 M66.39 M90.86 M93.9 N88.9 C17.1 H18.32 I71.23 M60.252 N88 Q78.4 G12.8 I49 I49.4 M89.15 P72.8 R09.A S37.5 S37.59 H11.131 I82.A Z85.71 C4A C4A.6 D06 D06.1 H05.241 H18.723 I87.033 L03.222 M87.33 N83.332 C47 H21.523 M89.2 Q98 S14.15 S60.52 C06 D60.8 K22.89 M53.2X3 Q68 T32.31 H15.052 M86.252 N80.3A2 C88.8 D41.11 K04.3 M99.28 Q64.71 S14.154 A51.46 D38.5 E77.9 C25.2 H80.03 J96.22 H11.119 Q42.1 M86.562 T81.61 S50.329 C4A.10 H90.42 M86.242 Z85.40 M87.871 H95.00 T42.0X5 J38.2 M86.312 Q23.88 M11.231 H21.211 M86.28 H16.291 C4A.31 D44.3 H11.241 M89.59 N35.911 O86.89 H02.514 J33.1 I80.253 A56.00 M05.871 R10.827 D12.1 C18.2 Q26.3 M61.561 T49.1X5 D02.2 D41.4 M89.28 K50.912 Q16 M47.28 Q38.6 M61.57 A63.8 D40.10 J95.09 H15.05 M86.421 Q30.8 M94.1 T84.63 C83.18 D27.0 S30.823 I71.012 N20.1 N64.5 Q82.4 G61 M51.372 M87.337 M84.872 M21.72 C50.2 C50.21 M26.00 N80.539 O36.812 S80.82 S80.821 C15.4 C10.2 K05.213 L89.626 T32.80 L66.81 M89.552 T21.77 H11.113 R87.612 D07.2 T81.321 Q55.69 L66.19 M84.564 E83.09 G71.038 C16.8 C57.2 I74.3 Q24.3 D40 O26.849 G71.3 Q28.0 C41.0 G96.89 M02.39 M89.76 H34.823 K55.052 L97.203 C75.5 M89.462 O41.142 H95.03 M89.471 C50.022 E34.01 M40.205 M86.60 M11.032 M89.07 E72.52 M43.3 M89.79 E83.00 K85.82 M43.4 Q64.5 E74.31 M87.862 D27.1 H21.31 M89.772 G71.13 R11.13 S02.10 H83.19 H18.839 Z85.821 O36.821 K09 Q42 H21.25 M24.212 M86.32 M86.322 D29.4 D37 G95.0 Q15 S34.112 T32.40 T39.1X I67.83 D12.7 K62 M84.871 M99.25 Q92.8 C24.9 G31 H16.33 H18.623 H95.112 L93.1 T32.99 I67.6 I82.553 K91.31 M61.262 Q10.2 Z87.430 D23.3 D36.1 D36.10 G70.81 L89.600 M90.552 Q22.8 Q25.9 C24 D20.1 I70.92 K95.8 M07.69 Q28 Q30.2 N99.52 R86.4 T32.30 E72.59 L57.3 O36.82 R85.615 C40.82 C63 I97.1 M87.873 S60.322 C69.50 C74.91 M62.44 Q71.6 T85.0 B08.79 C4A.60 D21.2 D31.20 L89.11 L89.143 M95.0 Z90.7 A50.40 C62.0 E78.79 Q74 S19.81 Z80.41 C18.1 C54 C54.0 C68.9 I69.292 M89.262 S11.25 T57.2X4 T86.3 H21.35 H93.093 K63.8 M26.1 N02.A B78.1 C66.1 H80.1 H95.111 I77 I78.9 K76.2 L74.2 N90.69 M87.83 N50.811 C69.4 M84.87 C30.1 G40.42 M89.071 Q38 N30.1 P74.2 Q82.3 C4A.5 D40.0 M02.361 M35.06 Q03.0 Q78.3 I67.858 N02.1 S90.829 M93.90 N11.9 C50.6 M71.05 O26.43 H83.11 K51.414 R25.2 T83.59 C14.2 D26.0 D31.3 H21.229 N80.42 M61.522 N01.1 R87.69 C67 P94.8 R85.82 C34.81 C40.8 E75.10 H68.122 C71.1 D47.09 G56.10 N80.01 T45.4X5 T63.413 Z90.13 C71.4 Q13.8 J62 G36.8 M33.19 B48.0 C7A.026 D78.21 H31.41 O64 T82.591 C84.11 H80.13 T56.3X1 C18.8 H11.219 Z15.04 C06.80 D68.4 M43.5X3 D09.0 H11.2 A54.85 C74.9 H31 L41.8 M11.252 M86.17 N80.12 T44.905 A50 H02.512 I77.71 N01.A C34.02 C7A.012 M21.86 K50.8 H11.229 M84.862 M86.511 P37.8 C40.1 M26.07 Z85.230 C79.61 D14.4 C04.1 Z86.005 H53.412 A52.02 D00.07 H35.729 C25.0 I74.01 N80.D5 C47.8 M61.221 M62.49 C58 O26.842 C4A.51 T32.41 M36.1 H70.812 M24.251 M53.2X4 N82.1 C25.8 M89.712 C63.2 G57.80 C81.47 M89.261 N80.3A1 C50.621 M71.2 M53.0 N60.92 E83.0 G90.B Q76.8 M41.34 L10.8 C4A.11 D81.7 M90.512 L89.41 M89.051 P50.2 S34.02 N80.202 P91.829 E72.09 H02.875 H35.53 N49.2 M25.159 M61.269 N41.8 D04.0 D49.51 I45.9 M11.25 M61.572 M84.531 N42.1 W44.8 C38.1 C4A.121 H82.2 K68.9 M61.249 T32.73 T82.531 C57.1 C96.22 I87.312 D40.12 I31.0 N99.518 T36.2X5 C79.31 G37.5 D29.22 G04.8 K51.313 C4A.1 C77.3 G96.02 A17.89 D06.0 M24.252 M11.23 S83.14 M86.30 T81.328 M86.121 E71 E71.1 J63.3 T32.22 M89.532 N28.84 C49.A5 H61.03 B46.2 G80.0 Z85.47 D30.22 H80.00 Q20.3 H35.50 N30.10 C34.31 M86.349 E04.2 D84 M87.31 R10.815 C81.38 M46.01 C69.62 H80.12 M89.742 T85.09 H44.533 C68 D00.00 D05.02 O43.91 C44.510 Q16.5 R82.992 A18.09 L51.0 L89.132 M61.27 M89.531 C7A.021 S53.19 N99.8 T44.7X5 D48.6 H11.233 M92.20 C67.3 E20.812 I87.313 M89.58 T32.51 T56.4X C40.31 M61.19 N73.5 C4A.12 B38.8 J61 M40.294 K63.89 L89.114 C38.4 C50.229 M99.32 I63.8 I82.1 D00.05 I63.542 K50.013 O73.0 T82.848 C50.411 M86.361 C50.629 H35.451 M89.42 O41.8 B07.8 C79.72 E72.19 Q51.81 A59.09 G37 T39.315 D3A.094 M11.019 C03.9 I70.433 M86.23 M94.3 C50.421 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Description

Bowen-Conradi Syndrome: A Rare Genetic Disorder

Bowen-Conradi syndrome, also known as Bowen-Hutterite syndrome, is a rare genetic disorder that affects multiple parts of the body. The condition is characterized by:

  • Growth delays: Affected individuals experience growth retardation before birth and continue to have feeding problems and slow growth during infancy [1][2].
  • Microcephaly: A distinctive feature of Bowen-Conradi syndrome is microcephaly, which refers to a smaller-than-average head size [3].
  • Malformations: The disorder can also cause malformations of the face, hands, and feet [4].
  • Failure to thrive: Infants with Bowen-Conradi syndrome often experience failure to thrive, meaning they do not gain weight or grow at a normal rate [5].

Autosomal Recessive Inheritance

Bowen-Conradi syndrome is inherited in an autosomal recessive pattern, which means that affected individuals have two copies of the mutated gene (one from each parent) [6][7]. This condition is usually fatal in infancy due to severe neurologic disease and airway problems [8].

References:

[1] Context 1: Feb 1, 2015 [2] Context 4: Aug 8, 2007 [3] Context 2: Feb 1, 2015 [4] Context 3: Bowen-Conradi syndrome is a very rare genetic disorder characterized by growth delays before birth, failure to thrive during infancy, and malformations of the ... [5] Context 5: Feb 1, 2015 — Bowen-Conradi syndrome is a disorder that affects many parts of the body and is usually fatal in infancy. Affected individuals have a low ... [6] Context 9: The disease is due to an autosomal recessive abnormality of the EMG1 gene. [7] Context 8: Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, ... [8] Context 6: An autosomal recessive transmitted disease resulting in death in the first year of life secondary to neurologic disease and airway problems.

Additional Characteristics

  • Microcephaly
  • Failure to thrive
  • Growth delays
  • Malformations

Signs and Symptoms

Bowen-Conradi Syndrome: A Rare Genetic Disorder

Bowen-Conradi syndrome is a rare genetic disorder characterized by growth delays before birth, failure to thrive during infancy, and malformations of the head and facial area. The major features of this syndrome include:

  • Prenatal and postnatal growth retardation: Affected individuals experience slow growth and development both before and after birth.
  • Low birth weight: Babies with Bowen-Conradi syndrome are often born with low birth weight, which can be a sign of their overall health issues.
  • Micro- and dolichocephaly: The head is unusually small (microcephaly) but longer than expected compared to the body.
  • Sloping forehead: A distinctive feature of this syndrome is a sloping forehead, which can be a noticeable characteristic.
  • Feeding problems: Affected individuals often experience feeding difficulties, which can lead to failure to thrive.
  • Developmental delays: Babies with Bowen-Conradi syndrome may not achieve developmental milestones such as smiling or sitting.

Additional Symptoms

Some affected infants may also exhibit:

  • Prominent 'proud' nose
  • Micrognathia (small lower jaw)
  • Fifth finger clinodactyly (curved fifth finger)
  • 'Rocker-bottom' feet
  • Death in the first months of life: Unfortunately, Bowen-Conradi syndrome is often fatal in infancy.

Genetic Basis

Bowen-Conradi syndrome is caused by an autosomal recessive abnormality of the EMG1 gene, which plays a role in small ribosomal subunit (SSU) assembly. This genetic mutation can lead to the characteristic symptoms and features of this rare disorder.

References:

  • [4] Some affected infants may also ...
  • [8] The major features consist of proportional prenatal and postnatal growth retardation with low birth weight, micro- and dolichocephaly, sloping forehead with ...
  • [9] December 24, 2020 - Bowen-Conradi syndrome is a disorder that affects many parts of the body and is usually fatal in infancy. Affected individuals have a low birth weight, experience feeding problems, and grow very slowly.
  • [6] January 5, 2024 - Bowen–Conradi syndrome is a disease in humans that can affect children. The disease is due to an autosomal recessive abnormality of the EMG1 gene, which plays a role in small ribosomal subunit (SSU) assembly.
  • [3] Among the offspring of second-cousin Hutterite parents, Bowen and Conradi (1976) described 2 males with a distinctive syndrome: prominent 'proud' nose, micrognathia, fifth finger clinodactyly, 'rocker-bottom' feet, and death in the first months of life.

Additional Symptoms

  • Feeding problems
  • Developmental delays
  • Prenatal and postnatal growth retardation
  • Micro- and dolichocephaly
  • Sloping forehead
  • Prominent 'proud' nose
  • Micrognathia (small lower jaw)
  • Fifth finger clinodactyly (curved fifth finger)
  • 'Rocker-bottom' feet
  • Death in the first months of life
  • low birth weight

Diagnostic Tests

Diagnostic Tests for Bowen-Conradi Syndrome

Bowen-Conradi syndrome, also known as Bowen-Hutterite syndrome, is a rare genetic disorder that can be diagnosed through various clinical and molecular tests.

  • Molecular Genetics Tests: A next-generation sequencing (NGS) test is available to diagnose individuals with clinical signs and symptoms, suspicion of, or family history of Bowen-Conradi syndrome. This test is specifically designed for the EMG1 gene, which provides instructions for making a protein involved in growth and development [7].
  • Clinical tests: Six clinical tests are available in the database for this condition, including molecular genetics tests and other relevant clinical tests [3].

Confirming Diagnosis

Diagnosis of Bowen-Conradi syndrome is typically made postnatally based on clinical manifestations. Molecular testing can then confirm the diagnosis [1]. The disorder is characterized by growth delays before birth and can be identified through various diagnostic tests.

References:

  • [1] Diagnosis is typically made postnatally based on clinical manifestations and can then be confirmed with molecular testing.
  • [3] 6 tests are in the database for this condition. Check Related conditions for additional relevant tests. Clinical tests (6 available). Molecular Genetics Tests.
  • [7] Feb 1, 2015 — Bowen-Conradi syndrome is caused by a mutation in the EMG1 gene. This gene provides instructions for making a protein that is involved in the ...

Additional Diagnostic Tests

  • Molecular Genetics Tests
  • Clinical tests (6 available)
  • NGS test

Treatment

Symptomatic Treatment Only

Unfortunately, there is no curative treatment available for Bowen-Conradi syndrome. The treatment is merely symptomatic, focusing on managing the various physical abnormalities and complications associated with the condition.

  • Feeding difficulties: Most infants require tube feeding due to compromised feeding.
  • Other symptoms: Treatment may also involve addressing other symptoms such as small head size (microcephaly), prominent nose, small chin, mild joint restriction, clinodactyly, camptodactyly, foot deformities, and other malformations.

According to [3], the natural history of Bowen-Conradi syndrome is similar to aneuploidy syndromes such as trisomy 18. This suggests that the condition is severe and often fatal in infancy.

Researchers are exploring potential treatments, including drugs that stabilize EMG1 D86G, a protein involved in ribosomal biogenesis [7]. However, these efforts are still in the early stages, and no effective treatment has been established yet.

It's essential to note that Bowen-Conradi syndrome is a rare genetic disorder with a high mortality rate. The focus of treatment is on providing supportive care and managing symptoms to improve the quality of life for affected individuals.

References:

[3] - Up-to-date treatment and research information; Patient registries; ... Orphanet is an online database of rare diseases and orphan drugs that provides aggregated ... [7] - Together, these insights into the dysfunction of EMG1 D86G in BCS highlight the possibility of development of drugs that stabilise EMG1 D86G for treatment of BCS. Materials and ...

Recommended Medications

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Differential Diagnosis

Differential Diagnosis of Bowen-Conradi Syndrome

Bowen-Conradi syndrome, also known as C syndrome, is a rare genetic disorder that affects multiple parts of the body. The differential diagnosis for this condition involves distinguishing it from other similar disorders.

  • Smith-Lemli-Opitz syndrome: This is another possible differential diagnosis for Bowen-Conradi syndrome. Fortunately, all these disorders are distinguished genetically, making it easier to diagnose the correct condition [8].
  • Microcephaly and distinctive facial features: The major features of Bowen-Conradi syndrome include proportionate intrauterine growth retardation, microcephaly, micrognathia, and other distinct facial features [6]. These symptoms can also be present in other conditions, making differential diagnosis essential.
  • Trisomy 18: Bowen-Conradi syndrome has significant clinical overlap with trisomy 18, a genetic disorder that affects multiple parts of the body. The two conditions share similar symptoms, including growth retardation and distinct facial features [3].

Key Points to Consider

  • Bowen-Conradi syndrome is an autosomal recessive condition, meaning it is inherited in an autosomal recessive pattern.
  • The differential diagnosis for this condition involves distinguishing it from other genetic disorders that affect multiple

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.