Marden Walker Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.0 | Congenital malformation syndromes with predominant involvement of the face |
| ICD-10 online (WHO version 2019) | |
The Marden-Walker syndrome is a very rare congenital malformation syndrome with the main features blepharophimosis , joint contractures and severe developmental retardation .
The name refers to the authors of the first description from 1966 by the American paediatricians PM Marden and W. Walker.
The child described by MI Ealing in 1944 may have had this syndrome.
distribution
The frequency is given as less than 1 in 1,000,000, inheritance is autosomal dominant .
root cause
The disease are mutations in PIEZO2 - gene on chromosome 18 locus p11.22-p11.21 basis.
Clinical manifestations
Clinical criteria are:
- Microcephaly , developmental delay, muscular hypotension
- Facial abnormalities: blepharophimosis, strabismus , small chin
- Skeletal abnormalities: reduced muscle mass, congenital contractures (elbow, knee, hip joint), clubfoot , kyphoscoliosis , camptodactyly , arachnodactyly
- Short stature
- abnormal dermatoglyphs , four-finger furrows
- Cryptorchidism , hypospadias or clitoral hypertrophy , hypoplastic labia
diagnosis
The diagnosis results from the combination of clinical findings.
Differential diagnosis
To be distinguished are u. a. the De-Grouchy syndrome , Schwartz-Jampel syndrome and Van den end-Gupta syndrome .
literature
- Y. Ma, Y. Zhao, Z. Cai, X. Hao: Mutations in PIEZO2 contribute to Gordon syndrome, Marden-Walker syndrome and distal arthrogryposis: A bioinformatics analysis of mechanisms. In: Experimental and therapeutic medicine. Volume 17, number 5, May 2019, pp. 3518-3524, doi: 10.3892 / etm.2019.7381 , PMID 30988732 , PMC 6447819 (free full text).
- MJ McMillin, AE Beck, JX Chong, KM Shively, KJ Buckingham, HI Gildersleeve, MI Aracena, AS Aylsworth, P. Bitoun, JC Carey, CL Clericuzio, YJ Crow, CJ Curry, K. Devriendt, DB Everman, A. Fryer , K. Gibson, ML Giovannucci Uzielli, JM Graham, JG Hall, JT Hecht, RA Heidenreich, JA Hurst, S. Irani, IP Krapels, JG Leroy, D. Mowat, GT Plant, SP Robertson, EK Schorry, RH Scott, LH Seaver, E. Sherr, M. Splitt, H. Stewart, C. Stumpel, SG Temel, DD Weaver, M. Whiteford, MS Williams, HK Tabor, JD Smith, J. Shendure, DA Nickerson ,. , MJ Bam: Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. In: American Journal of Human Genetics . Volume 94, number 5, May 2014, pp. 734-744, doi: 10.1016 / j.ajhg.2014.03.015 , PMID 24726473 , PMC 4067551 (free full text).
- AM Taksande, KY Vilhekar: Unusual manifestation of Marden-Walker syndrome. In: Indian journal of human genetics. Volume 18, number 2, May 2012, pp. 256-258, doi: 10.4103 / 0971-6866.100798 , PMID 23162309 , PMC 3491307 (free full text).
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 Marden-Walker syndrome. In: Orphanet (Rare Disease Database).
- ^ PM Marden, WA Walker: A new generalized connective tissue syndrome. In: American journal of diseases of children. Volume 112, Number 3, September 1966, pp. 225-228, PMID 5945535 .
- ↑ MI Ealing: (1944). Amyoplasia congenita causing malpresentation of the fetus, in: Journal of Obstetrics and Gynaecology of the British Empire, Vol. 15, 1944, pp. 144-146.
- ↑ CR King, E. Magenis: The Marden-Walker syndrome. In: Journal of Medical Genetics . Volume 15, Number 5, October 1978, pp. 366-369, doi: 10.1136 / jmg.15.5.366 , PMID 739527 , PMC 1013733 (free full text).
- ^ Marden-Walker syndrome. In: Online Mendelian Inheritance in Man . (English)
