Involvement of central nervous system presents with variable degrees of intellectual disability, motor delay and speech delay. [orpha.net]

These findings highlight the importance of family history, autopsy and molecular analysis in prenatal cases presenting with non isolated congenital diagphragmatic hernia on fetal ultrasound. [ashg.org]

The findings present in our patients are compared to those in the original patients and to those in patients described more recently. [ncbi.nlm.nih.gov]

Patients may present with broad hands and feet with shortened and wide toes and fingers. [medlexi.com]

• Coarse Facial Features

  facial features, widely spaced eyes, a short nose with anteverted nares, gingival overgrowth, a wide mouth, short limbs with short distal phalanges, and a small penis. [zora.uzh.ch]

  The boy had distinctive coarse facial features, widely spaced eyes (ocular hypertelorism), a large tongue (macroglossia), abnormal ears and abnormalities affecting the roof of the mouth (the palate). [abstracts.eurospe.org]

  The main features pointing towards the diagnosis were macrosomia, coarse facial features and macroglossia with a midline groove in the tongue. Proband B developed a Wilms tumour. He was found to have a novel mutation causing a premature stop codon. [samj.org.za]

  Simpson-Golabi-Behmel (SGB) syndrome is an X-linked recessive genetic disorder characterized by prenatal and postnatal overgrowth, coarse facial features, polydactyly and an increased risk of embryonal tumors. [ashg.org]

• Asymptomatic

  Carrier females are often asymptomatic, though females may also exhibit features of SGBS1. Genetic testing of GPC3 may confirm a diagnosis and help guide treatment and management decisions. [invitae.com]

  Female carriers are usually asymptomatic, but some are noted to have mild features detected following detailed clinical assessment after diagnosis in a male relative. [nature.com]

  Evaluation of relatives at-risk: It is appropriate to clarify the genetic status of apparently asymptomatic older and younger at-risk relatives of an affected individual by molecular genetic testing of the GPC3 or GCP4 pathogenic variant in the family [ncbi.nlm.nih.gov]

• Weight Gain

  gain, formation of tumors in the abdomen, enlarged organs (liver, spleen, kidneys), cardiac problems, low muscle tone, speech impediment, intellectual impairment, and attention deficit hyperactivity disorder (ADHD) Some females with a single copy of [dovemed.com]

• Broad Great Toe

  great toes, overlapping second and third toes pCME3(Belgium) / / Pre- and postnatal overgrowth, macrocephaly, macrostomia, mild mental retardation OG004(The Netherlands) / / Elevated birth weight, postnatal overgrowth, malposition of toes, hypogonadism [doi.org]

• Macrostomia

  The infantile lethal form of SGBS is sometimes known as SGBS type 2. [1] [2] People with SGBS typically have distinctive facial features, including a large distance between the eyes ( hypertelorism ), an unusually wide mouth ( macrostomia ) with a large [rarediseases.info.nih.gov]

  midline groove in tongue, vertebral anomalies, intestinal malrotation pCME2(Belgium) / / Prematurely born (37 weeks –birth weight and length at P97), postnatal overgrowth, omphalocoele, hypogonadism, macrostomia, broad great toes, overlapping second [doi.org]

  Simpson Golabi Behmel Syndrome (SGBS) is an X-linked overgrowth syndrome with coarse craniofacial features that include hypertelorism, epicanthal folds, macrostomia, macroglossia, and antiverted nares. [oxfordmedicine.com]

• Increased Birth Weight

  Major clinical findings include early onset intractable epileptic encephalopathy with a burst-suppression pattern on EEG, generalized muscular hypotonia, structural brain abnormalities, macrocephaly and increased birth weight, joint contractures, coarse [zora.uzh.ch]

  Growth: increased birth weight and height; prenatal/ postnatal overgrowth; broad, stocky, “bulldog” appearance. [accessanesthesiology.mhmedical.com]

• Neurologic Manifestation

  Neurologic manifestations are perhaps the most varied findings. Hypotonia and absent primitive reflexes, a high-pitched cry in neonates, seizures, and abnormal EEG have all been described. [ncbi.nlm.nih.gov]

• Sleep Disturbance

  Annual (or as indicated) ophthalmologic and audiologic evaluations in childhood; sleep study if there are concerns about sleep disturbance or sleep apnea; routine monitoring of renal function if renal anomalies are present; evaluation for scoliosis at [ncbi.nlm.nih.gov]

• Average Intelligence

  Most individuals with SGBS are of average intelligence, although some degree of mental impairment has been observed in males who are more severely affected. [encyclopedia.com]

• Meningism

  […] supernumerary nipple, advanced bone age, broad great toes, fourth toes overlapping the third toes AG0817 d (ECACC) Exon-3 missense(T1076A) / Pre- and postnatal overgrowth, characteristic facial features, bilateral accessory nipples, extra vertebrae, neonatal meningitis [doi.org]

• Visceromegaly

  […] macrosomia, distinctive craniofacial features (macrocephaly with coarse face, macroglossia, hypertelorism, dental malocclusion, palatal abnormalities), supernumerary nipples, congenital heart defects and arrhythmias, vertebral segmental defects, abdominal visceromegaly [orpha.net]

  Aids to diagnosing might include the presence of macrosomia, polyhydramnios, elevated maternal serum-α-fetoprotein, cystic hygroma, hydrops fetalis, increased nuchal translucency, craniofacial abnormalities, visceromegaly, renal abnormalities, congenital [en.wikipedia.org]

A team of doctors is often needed to figure out the treatment options based on each person’s symptoms. Last updated: 5/10/2018 [rarediseases.info.nih.gov]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Eyes Standard treatment for strabismus and cataracts Hearing Standard treatment for hearing loss Congenital heart defects & conduction abnormalities Standard treatment as per cardiologist Hypospadias/cryptorchidism in males Standard treatment as per urologist [ncbi.nlm.nih.gov]

Prognosis Prognosis depends on the severity of the disease; in the most severe cases, SGBS is life-threatening before birth or in infancy, whereas in milder cases patients often live into adulthood. [orpha.net]

We conclude that the recurrent PIGA germline mutation c.1234C T leads to a recognizable clinical phenotype with a poor prognosis and is the cause of SGBS2. [zora.uzh.ch]

What is the Prognosis of Simpson-Golabi-Behmel Syndrome? (Outcomes/Resolutions) The prognosis of Simpson-Golabi-Behmel Syndrome can be only determined based on the severity of the symptoms. [dovemed.com]

Etiology SGBS is due to loss-of-function mutations in the GPC3 gene (Xq26), encoding Glypican-3 (GPC3), a cell surface heparin sulfate proteoglycan which acts as a negative regulator of Hedgehog (Hh) signaling during development. [orpha.net]

We propose that Marden-Walker syndrome is one of the etiologic possibilities in children with the heterogeneous fetal a(hypo)kinesia deformation sequence (FADS). Differential diagnosis is discussed. The etiology is probably heterogeneous. [onlinelibrary.wiley.com]

(Etiology) Simpson-Golabi-Behmel Syndrome is caused by mutations in the GPC3 gene. The condition is inherited in an X-linked recessive fashion. Under normal circumstances, the gene codes for glypican protein 3 (GPC3 protein). [dovemed.com]

Summary Epidemiology The birth prevalence is unknown. Approximately 250 cases have been reported to date. Clinical description SGBS manifests a broad clinical picture with varying degrees of severity. [orpha.net]

[…] surgical disease - Rare neurologic disease - Rare oncologic disease - Rare otorhinolaryngologic disease - Rare renal disease - Rare surgical thoracic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]

Debaun, a pediatrician specializing in oncology and epidemiology, created a registry for patients diagnosed with SGBS. [medlexi.com]

JAMA 307(23):2526–2533 Google Scholar Bellani G, Laffey JG, Pham T, Fan E, Brochard L, Esteban A, Gattinoni L, van Haren F, Larsson A, McAuley DF, Ranieri M, Rubenfeld G, Thompson BT, Wrigge H, Slutsky AS, Pesenti A, Investigators LS, Group ET (2016) Epidemiology [clintransmed.springeropen.com]

Missense mutations are rare and the two which were functionally characterized, impaired GPC3 function by preventing GPC3 cleavage and cell surface addressing respectively. [ibrain.univ-tours.fr]

Prevention & Prophylaxis Due to Simpson-Golabi-Behmel syndrome being caused by a genetic defect, the only course of prevention is the testing of both the male and female parent prior to conception. [medlexi.com]

Currently, there are no specific methods or guidelines to prevent Simpson-Golabi-Behmel Syndrome, since it is a genetic condition Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus [dovemed.com]

Plastic surgery for the cleft palate was performed uneventfully and a tongue stitch was taken to prevent postoperative tongue fall. [file.scirp.org]