Simpson-Golabi-Behmel syndrome

Common Name(s)

Simpson-Golabi-Behmel syndrome

Simpson-Golabi-Behmel syndrome (SGBS) is a condition that affects many parts of the body and occurs primarily in males. It is an overgrowth syndrome, which means that affected individuals have macrosomia and continue to grow and gain weight at an unusual rate. The severity varies from very mild forms in carrier females to infantile lethal forms in affected males. Individuals typically have distinctive facial features including hypertelorism, macrostomia, macroglossia, a broad nose with an upturned tip, and palatal abnormalities. Other, variable findings include extra nipples, diastasis recti, umbilical hernia, congenital heart defects, renal defects, gastrointestinal anomalies, skeletal anomalies, hand anomalies, genitourinary abnormalities, and hepatosplenomegaly. Some people with the condition have mild to severe intellectual disability. About 10 percent of people with SGBS develop tumors in early childhood, including Wilms tumor and neuroblastoma. Some cases of SGBS are caused by mutations in the GPC3 gene and in other cases, the cause is unknown. It is inherited in an X-linked recessive manner.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Simpson-Golabi-Behmel syndrome" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Simpson-Golabi-Behmel syndrome" returned 12 free, full-text research articles on human participants. First 3 results:

Perinatal Case of Fatal Simpson-Golabi-Behmel Syndrome with Hyperplasia of Seminiferous Tubules.
 

Author(s): Nives Zimmermann, Jerzy Stanek

Journal:

 

BACKGROUND Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked recessive syndrome characterized by fetal overgrowth. CASE REPORT We present a case of a male infant with SGBS. Abnormal prenatal ultrasound (including congenital diaphragmatic hernia) prompted microarray testing ...

Last Updated: 31 Dec 1969

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Transient QT interval prolongation in an infant with Simpson-Golabi-Behmel syndrome.
 

Author(s): Emily Gertsch, Salman Kirmani, Michael J Ackerman, Dusica Babovic-Vuksanovic

Journal: Am. J. Med. Genet. A. 2010 Sep;152A(9):2379-82.

 

Last Updated: 31 Dec 1969

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Laryngeal web associated with Simpson-Golabi-Behmel syndrome in a child.
 

Author(s): M Agarwal, R Sharma, A Panda, A Gupta

Journal: Anaesth Intensive Care. 2009 Jul;37(4):671-2.

 

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Simpson-Golabi-Behmel syndrome" returned 2 free, full-text review articles on human participants. First 3 results:

Simpson-Golabi-Behmel syndrome types I and II.
 

Author(s): Jair Tenorio, Pedro Arias, Víctor Martínez-Glez, Fernando Santos, Sixto García-Miñaur, Julián Nevado, Pablo Lapunzina

Journal:

 

Simpson-Golabi-Behmel syndrome (SGBS) is a rare overgrowth syndrome clinically characterized by multiple congenital abnormalities, pre/postnatal overgrowth, distinctive craniofacial features, macrocephaly, and organomegaly. Abnormalities of the skeletal system, heart, central nervous ...

Last Updated: 31 Dec 1969

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Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome.
 

Author(s): Chih-Ping Chen

Journal: Taiwan J Obstet Gynecol. 2012 Jun;51(2):186-91.

 

With the advent of prenatal sonography, fetal overgrowth can be easily detected. Prenatal-onset overgrowth can be secondary to normal variants of familial tall stature, familial rapid maturation, diabetic macrosomia, and congenital nesidioblastosis, or prenatal-onset overgrowth can ...

Last Updated: 31 Dec 1969

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