Phalangeal abnormalities are important clinical features to look for once the stippling is no longer visible. [4] Other, more severe, clinical features include respiratory abnormalities, hearing loss, cervical spine abnormalities, delayed cognitive development, ophthalmologic abnormalities, cardiac abnormalities, gastroesophageal reflux, and feeding difficulties. [5] CDPX1 actually has a spectrum of severity; different mutations within the CDPX1 gene have different effects on the catalytic activity of the ARSE protein. The mutations vary between missense, nonsense, insertions, and deletions. [6] Contents 1 Cause 2 Diagnosis 2.1 Biochemical confirmation 3 Treatment 4 See also 5 References 6 External links Cause [ edit ] The only known cause of this condition is a mutation in the X-linked chondrodysplasia punctata 1 (CDPX1) gene. ... Keutel syndrome, deficiency of vitamin K epoxide reductase subunit 1 (VKORC1), gamma-glutamyl carboxylase (GGCX), Xp contiguous deletion syndromes, and multiple sulfatase deficiency are all genetic conditions that are associated BCDP. [5] Diagnosis [ edit ] This condition occurs almost exclusively in males. ... Fitzpatrick's Dermatology in General Medicine . (6th ed.). McGraw-Hill. ISBN 0-07-138076-0 . ^ Malou, E.; Gekas, J.; Troucelier-Lucas, V.; Mornet, E.; Razafimanantsoa, L.; Cuvelier, B.; Mathieu, M.; Thépot, F. (2001-02-01). ... Archives de Pédiatrie . 8 (2): 176–180. doi : 10.1016/S0929-693X(00)00181-0 . ISSN 0929-693X . PMID 11232459 . ^ Casarin, Alberto; Rusalen, Francesca; Doimo, Mara; Trevisson, Eva; Carraro, Silvia; Clementi, Maurizio; Tenconi, Romano; Baraldi, Eugenio; Salviati, Leonardo (2009-11-01).