Splenogonadal fusion-limb defects-micrognathia syndrome
| 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 |
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]
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]
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