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. Synonym(s): Parenti-Fraccaro syndrome

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.