Splenogonadal fusion-limb defects-micrognathia syndrome

Splenogonadal fusion-limb defects-micrognathia syndrome, also known by its abbreviation, SGFLD syndrome, is a rare genetic disorder characterized by abnormal fusion of the spleen and the gonad (splenogonadal fusion) alongside limb defects and orofacial anomalies. It is a type of syndromic dysostosis.^[2]

Splenogonadal fusion-limb defects-micrognathia syndrome
Other names	SGFLD syndrome[1]
Specialty	Medical genetics
Symptoms	Spleen-gonad fusion, limb defects, and orofacial anomalies
Complications	Premature death
Usual onset	Birth
Duration	Lifelong (although life is generally short for most people with the condition)
Causes	Genetic mutation
Prevention	None
Prognosis	Poor
Frequency	About 30 cases have been described in medical literature
Deaths	9

Children with this condition typically have abnormal fusion of the spleen and the gonad, amelia (or any kind of severe shortening of a limb), microglossia, cleft palate, bifid uvula, micrognathia. Additional symptoms include cryptorchidism, anal stenosis, anal atresia, pulmonary hypoplasia, and congenital heart defects.^[3][4]

This condition is highly fatal, fetuses/children with this condition are more likely to either be stillborn or die in infancy.^[5]

This condition is congenital, although an exact inheritance pattern isn't known.^[6] OMIM proposes it to be autosomal dominant.^[7]

Around 30 cases of SGLD have been described in medical literature.^[8] Most of them were male.^{[9][5][10][11]}