Catalog

Mycophenolate mofetil embryopathy

No MMS code

Link to WHO Definition

Mycophenolate mofetil embryopathy – http://id.who.int/icd/entity/2111105927

Mycophenolate mofetil (MMF) embryopathy is a malformation syndrome due to the teratogenic effect of MMF, an effective immunosuppressive agent widely used for the prevention of organ rejection after organ transplantation. Newborns or fetuses generally show external ear anomalies ranging from hypoplastic auricle (microtia) to complete absence of external ear (anotia) almost always associated with hypoplasia or atresia of the auditory canal (aural atresia) which can ultimately lead to deafness. Cleft lip-palate (see this term) with micrognathia is frequently observed. Aberrant orofacial cleft has been observed in one case. Ocular anomalies, such as microphthalmia and iris or chorioretinal coloboma, are also frequent and can induce visual defects including severe visual impairment. Distal limbs anomalies (hypoplastic toe nails) as well as congenital malformations of the heart, kidneys and/or central nervous system may also be observed. Oesophageal atresia, congenital diaphragmatic hernia and vertebral anomalies have been described in some cases. Intellectual deficit is usually absent, or only mild.