Smith-McCort Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q77.7 | Dysplasia spondyloepiphysaria |
| Q87.1 | Congenital malformation syndromes that are predominantly associated with short stature |
| ICD-10 online (WHO version 2019) | |
The Smith-McCort syndrome , better Smith McCort dysplasia is a very rare congenital skeletal dysplasia with the main features of a significant short stature with short trunk , facial abnormalities and rhizomelia . The disease is clinically very similar to Dyggve-Melchior-Clausen syndrome , but without microcephaly or reduced intelligence .
The demarcation and definition as an independent syndrome took place in 1976 by the Mainz pediatrician Jürgen Spranger .
The name refers to the authors of the first description from 1958 by the US doctors Roy Smith and James J. McCort , but misinterpreted as Morquio's disease .
distribution
The frequency is not known, the inheritance is done autosomal - recessive .
root cause
According to the underlying genetic defect, two types can be distinguished:
- Type 1 with mutations in the DYM gene in chromosome 18 locus q21.1
- Type 2 with mutations in the RAB33B gene in chromosome 4 at q31.1
Clinical manifestations
Clinical criteria are:
- disproportionate short stature with a short trunk and neck and an adult height of less than 130 cm.
- Facial abnormalities, barrel-shaped chest
- Generalized skeletal dysplasia with platyspondyly , small pelvic vane, shortened tubular bones and impaired ossification epi- and metaphyseal
- Rhizomelia
- Atlanto-occipital joint instability
Differential diagnosis
Be differentiated is next to the Dyggve-Melchior-Clausen syndrome the Juvenile idiopathic arthritis .
therapy
In the event of any surgical interventions , particular attention should be paid to the atlanto-occipital instability.
literature
- N. Dupuis, S. Lebon, M. Kumar, S. Drunat, LM Graul-Neumann, P. Gressens, V. El Ghouzzi: A novel RAB33B mutation in Smith-McCort dysplasia. In: Human mutation. Vol. 34, No. 2, February 2013, pp. 283-286, doi: 10.1002 / humu.22235 , PMID 23042644 .
- B. Koppers: Smith-McCort Syndrome. In: RöFo : Advances in the field of X-rays and nuclear medicine. Vol. 130, No. 2, February 1979, pp. 213-222, doi: 10.1055 / s-0029-1231256 , PMID 154455 .
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 Smith-McCort dysplasia. In: Orphanet (Rare Disease Database).
- ^ J. Spranger, B. Bierbaum, J. Herrmann: Heterogeneity of Dyggve-Melchior-Clausen dwarfism. In: Human genetics. Vol. 33, No. 3, August 1976, pp. 279-287, PMID 964990 .
- ↑ R. SMITH, JJ McCort: Osteochondrodystrophy (Morquio Brailsfordpump type); occurrence in three siblings. In: California medicine. Vol. 88, No. 1, January 1958, pp. 55-59, PMID 13489517 , PMC 1512281 (free full text).
- ^ Smith-McCort dysplasia. In: Online Mendelian Inheritance in Man . (English)
- ^ Smith-McCort dysplasia 2. In: Online Mendelian Inheritance in Man . (English)
- ↑ K. Gun, M. Uludag, H. Unalan, N. Mogulkoc, H. Battal, H. Sucuoglu, F. Kantarci, H. Koyuncu: A 14-year-old girl with Smith-McCort dysplasia misdiagnosed as seronegative juvenile idiopathic arthritis. In: International journal of rheumatic diseases. Vol. 15, No. 3, June 2012, pp. E55 – e57, doi: 10.1111 / j.1756-185X.2011.01690.x , PMID 22709503 .
- ↑ S. Bansal, VJ Ramesh, GS Rao, RM Surve: Anaesthesia and orphan disease: failed airway management in a case of Smith-McCort Dysplasia. In: European journal of anaesthesiology. Vol. 30, No. 12, December 2013, pp. 775-776, doi: 10.1097 / EJA.0b013e3283631953 , PMID 24141645 .
