McKusick-Kaufman syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
The McKusick-Kaufman syndrome (MKKS) is a very rare congenital malformation syndrome with the main features of genital malformation, mostly hydrometrocolpos , heart defects and postaxial polydactyly (extra fingers or toes).
Synonyms are: hydrometrocolpos syndrome; Kaufman-McKusick Syndrome; English Hydrometrocolpos-Postaxial Polydactyly Syndrome; HMCS
The name refers to the first author of the first description from 1964 by Victor Almon McKusick and a more detailed analysis by the American human geneticist Robert L. Kaufman .
distribution
The frequency among the Amish is around 1% of births , otherwise the frequency is not known. Inheritance is autosomal - recessive .
root cause
The disease are mutations in MKKS - gene in chromosome 20 locus P12.1 based.
Clinical manifestations
Clinical criteria are:
- Membranous vaginal atresia with hydrometrocolpos, duplication of the vagina and / or uterus
- Postaxial polydactyly of the fingers
- Heart defect
- Hypospadias , ureteral stenosis, or atresia of the ureter
- Anal atresia , intestinal malrotation
diagnosis
Since the clinical picture overlaps with Laurence-Moon-Biedl-Bardet syndrome in childhood, the diagnosis should be checked later, especially for retinopathia pigmentosa .
A prenatal diagnosis using fine ultrasound is possible.
Differential diagnosis
The Laurence-Moon-Biedl-Bardet syndrome and the Ellis-van-Creveld syndrome are to be distinguished .
literature
- AH Al-Salem, SH Abdel-Aziz: Mckusick-kaufman syndrome: diagnosis and management. In: Journal of neonatal surgery. Vol. 3, No. 1, 2014 Jan-Mar, p. 13, PMID 26023484 , PMC 4420436 (free full text).
- ET Lueth, KE Wood: McKusick Kaufman syndrome, complications arising at puberty. In: Journal of pediatric and adolescent gynecology. Vol. 27, No. 6, December 2014, pp. E125 – e126, doi: 10.1016 / j.jpag.2013.10.002 , PMID 24656697 .
- B. Franke, D. Missbach, KH Römer: [McKusick-Kaufman syndrome as a cause of acute abdomen in the neonatal period]. In: Zentralblatt für Chirurgie. Vol. 113, No. 4, 1988, pp. 254-258, PMID 3364056 .
Individual evidence
- ↑ a b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
- ^ A b c Orphanet McKusick-Kaufman syndrome
- ^ VA McKusick, RL Bauer, CE Koop, RB Scott: Hydrometrocolpos as a simply inherited malformation. In: JAMA. Vol. 189, September 1964, pp. 813-816, PMID 14172277 .
- ^ RL Kaufman, AF Hartmann, WH McAlister: Family studies in congenital heart disease, II: A syndrome of hydrometrocolpos, postaxial polydactyly and congenital heart disease. In: Birth Defects Original Article Series. Vol. VIII, No. 5 1972, pp. 85-87
- ^ Who named it McKusick-Kaufman syndrome
- ^ McKusick-Kaufman syndrome. In: Online Mendelian Inheritance in Man . (English)
- ↑ HF Tsai, MH Wu, YC Cheng, CH Chang, FM Chang: Prenatal ultrasonography and postnatal follow-up of a case of McKusick-Kaufman syndrome. In: Taiwanese journal of obstetrics & gynecology. Vol. 53, No. 2, June 2014, pp. 241-244, doi: 10.1016 / j.tjog.2012.07.042 , PMID 25017277 .
