diaphanospondylodysostosis

Diaphanospondylodysostosis is a rare, recessively inherited, perinatal lethal skeletal disorder.

The primary skeletal characteristics include small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue.

Consistent craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears.

The most commonly described extraskeletal finding is nephroblastomatosis (nephrogenic rests) with cystic kidneys, but other visceral findings have been described in some cases.

Diaphanospondylodysostosis is caused by homozygous or compound heterozygous mutation in the BMPER gene (MIM.608699).

Pathology

 A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD). (MIM.608022)

References

 A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD). Ben-Neriah Z, Michaelson-Cohen R, Inbar-Feigenberg M, Nadjari M, Zeligson S, Shaag A, Zenvirt S, Elpeleg O, Levy-Lahad E. Am J Med Genet A. 2011 Nov;155A(11):2801-6. PMID: 21990102