Catel Manzke Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
The Catel-Manzke syndrome (CATMANS) is a very rare, sex-linked inherited dysmorphic syndrome with the symptoms of the Pierre Robin sequence ( microgenius , cleft palate ( Latin palato ), and glossoptosis ) as well as excess finger parts on both hands ( hyperphalangia ) and bending ( Clinodactyly ) of the index finger ( Latin digital ).
Synonyms are: Latin digital syndrome ; Palato-digital syndrome type Catel-Manzke; Manzke Syndrome; Pierre Robin Syndrome with index finger abnormalities; Pierre Robin Sequence - Hyperphalangia - Clinodactyly; English Hyperphalangy-Clinodactyly of Index Finger with Pierre Robin Syndrome; Micrognathia Digital Syndrome .
The name refers to the first authors of the first description from 1961 by the German pediatrician Werner Catel and in 1966 by V. Hermann Manzke (* 1933).
distribution
The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive .
root cause
The disease is based on mutations in the TGDS gene at locus 13q32.1.
Clinical manifestations
Clinical criteria are:
- Robin sequence with pronounced microgenius, glossoptosis, cleft palate
- additional small tubular bones (metacarpals) or proximal phalanges on the side of the index finger with lateral deviation of the finger
- asymmetrical findings
Other malformations such as ventricular septal defects and atrial septal defects are often found .
Coloboma , facial abnormalities such as hypertelorism , short eyelid slits, atypically positioned ears, funnel or chicken breasts , scoliosis , bilateral brachydactyly , clinodactyly of the little finger, clubfoot, etc. occur less frequently .
diagnosis
The diagnosis is based on clinical findings at birth. The type of finger changes is documented in the X-ray .
Differential diagnosis
The following are to be distinguished with regard to the finger changes:
- Desbuquois Syndrome
- Brachydactyly syndromes such as brachydactyly type A4 (Temtamy) and brachydactyly type C .
therapy
The treatment largely affects the symptoms of the Pierre Robin Sequence, s. there .
literature
- N. Ehmke, A. Caliebe, R. Koenig, SG Kant, Z. Stark, V. Cormier-Daire, D. Wieczorek, G. Gillessen-Kaesbach, K. Hoff, A. Kawalia, H. Thiele, J. Altmüller , B. Fischer-Zirnsak, A. Knaus, N. Zhu, V. Heinrich, C. Huber, I. Harabula, M. Spielmann, D. Horn, U. Kornak, J. Hecht, PM Krawitz, P. Nürnberg, R. Siebert, H. Manzke, S. Mundlos: Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome. In: American Journal of Human Genetics . Vol. 95, No. 6, December 2014, pp. 763-770, doi: 10.1016 / j.ajhg.2014.11.004 , PMID 25480037 , PMC 4259972 (free full text).
- L. Bernd, AK Martini, M. Schiltenwolf, J. Graf: Hyperphalangia in Pierre Robin Syndrome. In: Journal for orthopedics and their border areas. Vol. 128, No. 5, 1990 Sep-Oct, pp. 463-465, doi: 10.1055 / s-2008-1039597 , PMID 2147334 .
- L. Bernd, AK Martini, M. Schiltenwolf: The Catel-Manzke syndrome. In: Clinical Pediatrics. Vol. 202, No. 1, 1990 Jan-Feb, pp. 60-63, doi: 10.1055 / s-2007-1025488 , PMID 2314003 .
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 d e Catel-Manzke syndrome. In: Orphanet (Rare Disease Database).
- ^ W. Catel: Differential Diagnosis of Disease Symptoms in Children and Adolescents. Vol. 1, 3rd ed. Thieme, Stuttgart, 1961, pp. 218-20.
- ^ H. Manzke: Symmetrical hyperphalangia of the second finger through an accessory metacarpal. In: Advances in X-Ray and Nuclear Medicine . Vol. 105, No. 3, September 1966, pp. 425-427, PMID 6011685 .
- ↑ Catel-Manzke syndrome. In: Online Mendelian Inheritance in Man . (English)
