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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cite web}}
: CS1 maint: numeric names: authors list (
link)
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]
{{
cite web}}
: CS1 maint: numeric names: authors list (
link)