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Simpson Dysmorphia Syndrome



  • 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]
  • 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]
  • Patients may present with broad hands and feet with shortened and wide toes and fingers .[medlexi.com]
  • We found that this group of 3 pts presented a minimal common region of amplification of GPC4 (chr X: 132,432,100-132,435,915) with a significant p value (p Conclusion GPC4 and GPC3 are coding genes for glypicans, heparan sulfate proteoglycans which have[learningcenter.ehaweb.org]
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]
Tall Stature
  • 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 be primary due to pathological overgrowth disorders[ncbi.nlm.nih.gov]
  • Sotos and Jesús Argente, Overgrowth Disorders Associated with Tall Stature, Advances in Pediatrics, 55, 1, (213), (2008). Baruch D.[doi.org]
  • stature / gigantism / growth acceleration - Undescended / ectopic testes / cryptorchidia / unfixed testes - X-linked recessive inheritance Frequent - Absent / hypotonic / flaccid abdominal wall muscles - Anteverted nares / nostrils - Atrial septal defect[csbg.cnb.csic.es]
  • stature, bilateral index finger nail hypoplasia, coarse facies, hypertelorism, midface hypoplasia, abnormal dentition, supernumerary nipple, advanced bone age, broad great toes, fourth toes overlapping the third toes AG0817 d (ECACC) Exon-3 missense([doi.org]
  • 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]
  • 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]
  • 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]
  • […] disability-spasticity-ectrodactyly syndrome Intellectual disability-strabismus syndrome Intermediate DEND syndrome Intermediate nemaline myopathy Intermediate severe Salla disease Internal carotid agenesis Isolated Dandy-Walker malformation Isolated anencephaly/exencephaly Isolated asymptomatic[se-atlas.de]
High-Pitched Cry
  • Hypotonia and absent primitive reflexes, a high-pitched cry in neonates, seizures, and abnormal EEG have all been described. Hydrocephalus, epilepsy, and attention deficit hyperactivity disorder may also be present [ Tenorio et al 2014 ].[ncbi.nlm.nih.gov]
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]
Advanced Bone Age
  • Advanced bone age. Bone age tells us how quickly a child's skeletal system is maturing. An advanced bone age in relation to the age of the child may be an indicator of SGBS. Talipes.[medlexi.com]
  • Macrosomia Macroglossia Advanced bone age Organomegaly Neonatal hypoglycemia Neoplasms Congenital diaphragmatic hernia (CDH) "Bulldog" or "coarse" face (protruding jaw and tongue, widened nasal bridge, upturned nasal tip) Hands and feet are short and[en.wikipedia.org]
  • bone age - Asplenia / polysplenia / spleen lobulation / accessory spleen - Cardiomyopathy / hypertrophic / dilated - Cleft lip - Corpus callosum / septum pellucidum total / partial agenesis - Dandy-Walker anomaly - Diaphragmatic hernia / defect / agenesis[csbg.cnb.csic.es]
  • Symptoms [ edit ] Macrosomia Macroglossia Advanced bone age Organomegaly Neonatal hypoglycemia Neoplasms Congenital diaphragmatic hernia (CDH) "Bulldog" or "coarse" face (protruding jaw and tongue, widened nasal bridge, upturned nasal tip) Hands and feet[en.wikipedia.org]
Large Hand
  • Marshall-Smith syndrome (OMIM 602535 ), which shares advanced bone age and intellectual disability with SGBS1; differences include facial features and predisposition to fractures.[ncbi.nlm.nih.gov]
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]
High, Prominent Forehead
  • Typical facial features include high, prominent forehead, hypertelorism, full lips, and micrognathia.[ncbi.nlm.nih.gov]
Language Delays
  • Language delay is common and mental retardation varies from mild to severe, although individuals with normal intelligence have been reported.[preventiongenetics.com]
  • Normal intelligence has been described, but mild to severe intellectual disability is common, with language delay being the most characteristic finding. Neurologic manifestations are perhaps the most varied findings.[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]


  • 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]


  • 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]
  • Prognosis The spectrum of clinical manifestations in SGBS is broad, varying from very mild forms in carrier females to infantile lethal forms in affected males. As many as 50% of males affected with SGBS die in the newborn period.[encyclopedia.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]
  • The exact role of GPC3 in the etiology of SGBS is still unknown.[atlasgeneticsoncology.org]
  • 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]


  • 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]
Sex distribution
Age distribution


  • 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]
  • Plastic surgery for the cleft palate was performed uneventfully and a tongue stitch was taken to prevent postoperative tongue fall.[file.scirp.org]
  • Our data demonstrate that epitope-optimization is required to potently activate AFP- and GPC3- specific CD8 T cells, generating effective antitumor effect to prevent carcinogen-induced HCC in mice.[jimmunol.org]

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