achondrogenesis type IB

achondrogenesis type IB

[MIM*600972]
achondrogenesis with severely disorganized intracartilaginous ossification; autosomal recessive inheritance, caused by mutation in the diastrophic dysplasia sulfate transporter gene (DTDST) on chromosome 5q.

a·chon·dro·gen·e·sis type IB

(ā-kon-drō-jen'ĕ-sis tīp)
Achondrogenesis with severely disorganized intracartilaginous ossification; autosomal recessive inheritance, caused by mutation in the diastrophic dysplasia sulfate transporter gene (DTDST) on chromosome 5q.
Synonym(s): Parenti-Fraccaro syndrome.
References in periodicals archive ?
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene.
A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB.
Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type IB homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter.