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.



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Total: 2 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(57.8%)		 19253352
 Prenatal sonographic findings in a fetus with splenogonadal fusion limb defect syndrome.
Basbug M, Akgun H, Ozgun MT, Turkyilmaz C, Batukan C, Ozcelik B.
J Clin Ultrasound. 2009;37(5):298-301.
Micrognathia
Abortion, Eugenic Adult Autopsy Ectromelia Females Homo sapiens Pregnancy Pregnancy Trimester, Second Spleen Ultrasonography, Prenatal
2
(4.0%)		 10494091
 Splenogonadal fusion limb defect syndrome: report of five new cases and review.
Bonneau D, Roume J, Gonzalez M, Toutain A, Carles D, Marechaud M, Biran-Mucignat V, Amati P, Moraine C.
Am J Med Genet. 1999;86(4):347-58.
Splenogonadal fusion
Adult Craniofacial Abnormalities Females Homo sapiens Infant, Newborn Limb Deformities, Congenital Male Mandible Ovary Pregnancy Spleen Syndrome Testis
        

Phenotype(s) retrieved from Orphanet

    Total: 28

HPO ID Term Frequency
HP:0000023 Inguinal hernia Very frequent (99-80%)
HP:0000951 Abnormality of the skin Very frequent (99-80%)
HP:0001385 Hip dysplasia Very frequent (99-80%)
HP:0001622 Premature birth Very frequent (99-80%)
HP:0002815 Abnormality of the knee Very frequent (99-80%)
HP:0002817 Abnormality of the upper limb Very frequent (99-80%)
HP:0002823 Abnormality of femur morphology Very frequent (99-80%)
HP:0002991 Abnormality of fibula morphology Very frequent (99-80%)
HP:0003019 Abnormality of the wrist Very frequent (99-80%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0100559 Lower limb asymmetry Frequent (79-30%)
HP:0100560 Upper limb asymmetry Frequent (79-30%)
HP:0000174 Abnormal palate morphology Occasional (29-5%)
HP:0000189 Narrow palate Occasional (29-5%)
HP:0000358 Posteriorly rotated ears Occasional (29-5%)
HP:0000776 Congenital diaphragmatic hernia Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001357 Plagiocephaly Occasional (29-5%)
HP:0002023 Anal atresia Occasional (29-5%)
HP:0002101 Abnormal lung lobation Occasional (29-5%)
HP:0002269 Abnormality of neuronal migration Occasional (29-5%)
HP:0002564 obsolete Malformation of the heart and great vessels Occasional (29-5%)
HP:0006283 Multiple unerupted teeth Occasional (29-5%)
HP:0006333 Crowded maxillary incisors Occasional (29-5%)
HP:0006703 Aplasia/Hypoplasia of the lungs Occasional (29-5%)
HP:0009804 Reduced number of teeth Occasional (29-5%)
HP:0100543 Cognitive impairment Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0025410 Splenogonadal fusion 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID