Pointer Syndrome

Classification according to ICD-10
Q87.5	Other congenital malformation syndromes with other skeletal changes
ICD-10 online (WHO version 2019)

The Pointer's syndrome is a very rare congenital disease with the main features of skeletal malformation , camptodactyly , facial dysmorphia and drinking difficulties.

Synonyms are: Skeletal abnormalities, camptodactyly, facial anomalies, and feeding difficulties

The name was suggested by the authors of the first description from 1997 by the US human geneticist AHM Mahbubul Huq and colleagues.

distribution

So far only one family has been described; inheritance is autosomal - recessive .

Clinical criteria are:

In the X-ray image metaphyseal widening, osteopenia , Kampomelie (bending of the upper and lower thigh), endosteal hyperostosis , fracture inclination.

W. Wang. et al .: Limb Dysdifferentiation. In: W. Wang, J. Yao (Eds.): Congenital Deformities of the Hand and Upper Limb. Plastic and Reconstructive Surgery . 2017 pp. 209–285, ISBN 978-981-10-5100-5 , eBook ISBN 978-981-10-5101-2 , doi: 10.1007 / 978-981-10-5101-2_6
JE García-Ortiz, G. Castañeda-Cisneros, MG López-Cardona et al .: Camptodactyly, joint contractures, facial, and skeletal defects: Further delineation of the Rozin camptodactyly syndrome. In: American Journal of Medical Genetics Part A, Vol. 140A, No. 11, pp. 1245-1249, 2006.
R. Witkowski, O. Prokop, E. Ullrich and G. Thiel: Lexical part. In: Lexicon of Syndromes and Malformations , 2003, ISBN 978-3-642-62927-3 , eBook ISBN 978-3-642-55694-4 , doi: 10.1007 / 978-3-642-55694-4_5

↑ ^a ^b Rare Diseases
↑ ^a ^b ^c A. H. Huq, RM Braverman, F. Greenberg et al .: The Pointer syndrome: a new syndrome with skeletal abnormalities, camptodactyly, facial anomalies, and feeding difficulties. In: American Journal of Medical Genetics. Vol. 68 No. 2, 1997, p. 225-30. PMID 9028464