achondrogenesis type IB

(redirected from Parenti-Fraccaro syndrome)

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.
Farlex Partner Medical Dictionary © Farlex 2012

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.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012