Splenogonadal fusion-limb defects-micrognathia syndrome

Splenogonadal fusion-limb defects-micrognatia syndrome is a rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations.

Also known as: SGFLD syndrome, Sgfld syndrome, splenogonadal fusion limb defect syndrome, splenogonadal fusion limb defects micrognatia, splenogonadal fusion limb defects syndrome, splenogonadal fusion with limb defects and micrognathia

1 clinical trial for this condition and its sub-types, 0 tagged with Splenogonadal fusion-limb defects-micrognathia syndrome itself.