Marshall Smith Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.3 | Congenital malformation syndromes with increased tissue growth in early childhood |
| ICD-10 online (WHO version 2019) | |
The Marshall-Smith syndrome is a very rare congenital disease with the main features of an accelerated aging bones combined with a striking face and failure to thrive .
Synonyms are: MRSHSS; Marshall Syndrome; English Accelerated skeletal maturation, Marshall-Smith type; Marshall-Smith-Weaver syndrome
Other, probably incorrect, equations are Greig's cephalopolyndactyly and Greig's syndrome I , compare Greig's syndrome with a different genetic basis.
The name refers to the first author of the first description from 1971 by the American pediatricians Richard E. Marshall (born July 30, 1933) and David Weyhe Smith .
distribution
The frequency is given as less than 1 in 1,000,000, around 30 patients have been described so far. The inheritance is autosomal dominant .
root cause
The disease are mutations in NFIX - gene on chromosome 19 locus p13.13 based
Mutations in this gene are also found in Malan's syndrome .
Clinical manifestations
Clinical criteria are:
- Tall stature
- accelerated bone age at birth
- Facial abnormalities like prominent forehead, protruding eyes, blue sclera , microgenius, and forward nostrils
- Feeding problems
- Failure to thrive
- frequent respiratory infections
diagnosis
The diagnosis arises from the clinical examination and changes in the X-ray image (accelerated bone age , short, conical finger and toe bones ).
Differential diagnosis
The Weaver syndrome and Sotos syndrome with comparable skeletal findings are to be distinguished from the differential diagnosis .
therapy and progress
Treatment can only be symptomatic by combating malnutrition and respiratory infections, which determine the prognosis .
literature
- TE Herman, MJ Siegel: Marshall-Smith syndrome. In: Journal of Perinatology : official journal of the California Perinatal Association. Vol. 35, No. 4, April 2015, pp. 307-309, doi: 10.1038 / jp.2014.224 , PMID 25813678 .
- E. Gómez-Santos, JM Lloreda-García, JR Fernández-Fructuoso, C. Martínez-Ferrández, JL Leante-Castellanos, C. Fuentes-Gutiérrez: Neonatal Marshall-Smith syndrome. In: Clinical dysmorphology. Vol. 23, No. 2, April 2014, pp. 42-44, doi: 10.1097 / MCD.0000000000000031 , PMID 24556605 .
Individual evidence
- ↑ a b c d e f Marshall-Smith Syndrome. In: Orphanet (Rare Disease Database).
- ↑ 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 .
- ^ Who named it Greig's Syndrome I.
- ^ RE Marshall, CB Graham, CR Scott, DW Smith: Syndrome of accelerated skeletal maturation and relative failure to thrive: a newly recognized clinical growth disorder. In: The Journal of Pediatrics . Vol. 78, No. 1, January 1971, pp. 95-101, PMID 4321601 .
- ^ Who named it Marshall-Smith Syndrome
- ^ Marshall-Smith syndrome. In: Online Mendelian Inheritance in Man . (English)
- ↑ V. Malan, D. Rajan, S. Thomas, AC Shaw, H. Louis Dit Picard, V. Layet, M. Till, A. van Haeringen, G. Mortier, S. Nampoothiri, S. Puseljić, L. Legeai -Mallet, NP Carter, M. Vekemans, A. Munnich, RC Hennekam, L. Colleaux, V. Cormier-Daire: Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. In: American Journal of Human Genetics . Vol. 87, No. 2, August 2010, pp. 189-198, doi: 10.1016 / j.ajhg.2010.07.001 , PMID 20673863 , PMC 2917711 (free full text).
