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Simpson-Golabi-Behmel syndrome

Also Known As:
Bulldog syndrome; Dysplasia gigantism syndrome, X-linked; Golabi-Rosen syndrome; Simpson dysmorphia syndrome
Networked: 60 relevant articles (0 outcomes, 0 trials/studies)

Bio-Agent Context: Research Results

Experts

1. Moizard, Marie-Pierre: 4 articles (03/2014 - 02/2008)
2. Rossignol, Sylvie: 3 articles (05/2013 - 08/2005)
3. Cormier-Daire, Valérie: 3 articles (05/2013 - 08/2005)
4. Yang, Ximing J: 2 articles (01/2015 - 02/2008)
5. Luan, Chunyan: 2 articles (01/2015 - 02/2008)
6. Zynger, Debra L: 2 articles (01/2015 - 02/2008)
7. Leiherer, Andreas: 2 articles (03/2014 - 01/2011)
8. Geiger, Kathrin: 2 articles (03/2014 - 01/2011)
9. Muendlein, Axel: 2 articles (03/2014 - 01/2011)
10. Drexel, Heinz: 2 articles (03/2014 - 01/2011)

Related Diseases

1. Beckwith-Wiedemann Syndrome (Exomphalos Macroglossia Gigantism Syndrome)
2. Mental Retardation (Idiocy)
3. Neoplasms (Cancer)
4. Macrocephaly
01/01/2014 - "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. "
05/01/2011 - "Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked recessive disorder encompassing pre- and postnatal overgrowth and a variety of additional anomalies including craniofacial dysmorphism, macrocephaly, congenital heart defects and genitourinary anomalies. "
04/01/2014 - "Simpson-Golabi-Behmel syndrome is a rare overgrowth syndrome caused by the GPC3 mutation at Xq26 and is clinically characterized by multiple congenital abnormalities, intellectual disability, pre/postnatal overgrowth, distinctive craniofacial features, macrocephaly, and organomegaly. "
05/01/2013 - "Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked multiple congenital abnormality/intellectual disability syndrome characterized by pre- and post-natal overgrowth, distinctive craniofacial features, macrocephaly, variable congenital malformations, organomegaly, increased risk of tumor and mild/moderate intellectual deficiency. "
02/01/2013 - "The present patients and the previously reported male patients from four families (clinical OFD1; Simpson-Golabi-Behmel syndrome, type 2 with an OFD1 mutation; Joubert syndrome-10 with OFD1 mutations) would belong to a single syndrome spectrum caused by truncating OFD1 mutations, presenting with craniofacial features (macrocephaly, depressed or broad nasal bridge, and lip abnormalities), postaxial polydactyly, respiratory insufficiency with recurrent respiratory tract infections in survivors, severe mental or developmental retardation, and brain malformations (hypoplasia or agenesis of corpus callosum and/or cerebellar vermis and posterior fossa abnormalities)."
5. Hepatoblastoma

Related Drugs and Biologics

1. Weaver syndrome
2. Glypicans
3. Insulin (Novolin)
4. Fryns syndrome
5. Jarcho-Levin syndrome
6. Multiple pterygium syndrome lethal type
7. Penoscrotal transposition
8. Craniofrontonasal dysplasia
9. PEHO syndrome
10. Pulmonary venous return anomaly

Related Therapies and Procedures

1. Liver Transplantation
2. Sutures (Suture)