Schneckenbecken dysplasia is a severe skeletal dysplasia that leads to perinatal death. The characteristic is the snail-like configuration of the hypoplastic iliac bones. Patients also have limbs with extremely short long bones and flat vertebratal bodies. Loss-of-function mutations in SLC35D1 gene impair the transporter activity of nucleotide sugars in Schneckenbecken dysplasia. The disease is inherited as an autosomal recessive trait.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H00474 Schneckenbecken dysplasia
Furuichi T, Kayserili H, Hiraoka S, Nishimura G, Ohashi H, Alanay Y, Lerena JC, Aslanger AD, Koseki H, Cohn DH, Superti-Furga A, Unger S, Ikegawa S
Title
Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases.
