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pattern. Both parents of the affected must be heterozygous carriers of the pathogenic variant. Heterozygous carriers for MKS show no symptoms of the disorder, nor can they develop the disorder. Each child of these carriers has a 1/4 chance of being affected by MKS, a 1/2 chance of being carriers
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McKusick-Kaufman syndrome affects 1 in 10,000 people in the Old Order Amish population. A case frequency outside of this population has not been established.
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Clinical findings support the diagnosis of MKS, including identification of biallelic pathogenetic variants. Diagnosis additionally requires ruling out
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60:. It is sometimes known by the abbreviation MKS. In infancy it can be difficult to distinguish between MKS and the related
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Treatments are available for accompanying symptoms of MKS, including addressing polydactyly and congenital heart defects.
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Slavotinek, Anne M. (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.),
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Slavotinek, Anne M. (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.),
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Clinically, McKusick–Kaufman syndrome is characterized by a combination of three features: postaxial
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McKusick–Kaufman syndrome is inherited in an autosomal recessive manner
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themselves, and a 1/4 chance of being unaffected and a non carrier.
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GeneReview/NIH/UW entry on McKusick–Kaufman
Syndrome
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99:(a downward-curving penis), and undescended testes (
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79:, heart defects, and genital abnormalities:
115:MKS is inherited in an autosomal recessive
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45:is a genetic condition associated with
602:Autosomal recessive polycystic kidney
311:, University of Washington, Seattle,
279:, University of Washington, Seattle,
7:
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106:ureter stenosis or ureteric atresia
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506:Asphyxiating thoracic dysplasia
52:The condition is named for Dr.
1:
715:Autosomal recessive disorders
710:Syndromes affecting the heart
648:. You can help Knowledge by
89:Double vagina and/or uterus.
305:"McKusick-Kaufman Syndrome"
273:"McKusick-Kaufman Syndrome"
231:"McKusick-Kaufman syndrome"
206:"McKusick-Kaufman syndrome"
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592:Orofaciodigital syndrome 1
582:Primary ciliary dyskinesia
255:"McKusick-Kaufam Syndrome"
229:Reference, Genetics Home.
204:Reference, Genetics Home.
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597:McKusick–Kaufman syndrome
496:Polycystic kidney disease
418:McKusick-Kaufman Syndrome
175:McKusick-Kaufman syndrome
43:McKusick–Kaufman syndrome
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22:McKusick–Kaufman syndrome
383:C538159 C538159, C538159
705:Syndromes with dysmelia
235:Genetics Home Reference
210:Genetics Home Reference
192:Genetics Home Reference
720:Genetic disorder stubs
190:Abbreviation cited at
587:Senior–Løken syndrome
519:Bardet–Biedl syndrome
150:Bardet–Biedl syndrome
130:Bardet-Biedl Syndrome
83:Vaginal atresia with
62:Bardet–Biedl syndrome
700:Syndromes in females
155:Dominance (genetics)
404:External resources
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479:Diseases of cilia
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54:Robert L. Kaufman
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16:Medical condition
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642:genetic disorder
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577:Alström syndrome
561:Nephronophthisis
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238:. Retrieved
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213:. Retrieved
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71:Presentation
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413:GeneReviews
261:, 1993-2015
259:GeneReviews
93:Hypospadias
77:polydactyly
695:Ciliopathy
689:Categories
613:See also:
540:centrosome
514:basal body
486:Structural
389:DiseasesDB
322:2018-11-07
290:2018-11-07
240:2018-11-07
215:2018-11-07
161:References
554:Signaling
493:receptor:
136:Treatment
124:Diagnosis
117:dominance
424:Orphanet
317:20301675
285:20301675
144:See also
111:Genetics
362:: Q87.8
97:chordee
503:cargo:
372:236700
315:
283:
640:This
429::2473
394:33261
646:stub
378:MeSH
367:OMIM
313:PMID
281:PMID
56:and
47:MKKS
355:ICD
178:at
691::
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359:10
307:,
275:,
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677:e
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529::
471:e
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457:v
357:-
347:D
243:.
218:.
194:.
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
