At birth, they presented with coarse face, hypertelorism, and a deep groove under the eyes. Fontanelles and sutures were wide open. Genital abnormalities were present in 2 cases. [ncbi.nlm.nih.gov]

We present the first case of SGS developing scoliosis. The patient presented with scoliosis at the age of 8 years which rapidly progressed to severe thoraco-lumbar scoliosis. Survival beyond 2 years is rare in this syndrome. [hss.edu]

• Developmental Delay

  From Wikidata Jump to navigation Jump to search Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, [wikidata.org]

  Schinzel-Giedion syndrome (SGS) is a rare multiple congenital malformation syndrome defined by characteristic facial features, profound developmental delay, severe growth failure, and multiple congenital anomalies. [ncbi.nlm.nih.gov]

  Schinzel - Giedion syndrome (SGS) is a rare multiple congenital malformation syndrome defined by characteristic facial features, profound developmental delay, severe growth failure, and multiple congenital anomalies including skeletal, renal, genital [ashg.org]

• Multiple Congenital Anomalies

  Typical facial features, multiple congenital anomalies, and associated neurological findings could lead to the clinical diagnosis of SGS. [ashg.org]

  Congenital severe hydronephrosis, typical facial features, and multiple anomalies suggested a clinical diagnosis of Schinzel-Giedion syndrome. [ncbi.nlm.nih.gov]

  Schinzel-Giedion syndrome (SGS) is a rare multiple congenital malformation complex characterized by distinctive facial features, multiple congenital anomalies (including skeletal, genitourinary and cardiac malformations), severe intellectual disability [oxfordmedicine.com]

• Inguinal Hernia

  Swallowing difficulties Swallowing difficulty [ more ] 0002015 Ependymoma 0002888 Epileptic spasms 0011097 Gastrostomy tube feeding in infancy 0011471 Hepatoblastoma 0002884 Hypoplasia of the epiglottis 0005349 Hypospadias 0000047 Hypsarrhythmia 0002521 Inguinal [rarediseases.info.nih.gov]

• Single Transverse Palmar Crease

  transverse palmar crease 0000954 Sloping forehead Inclined forehead Receding forehead [ more ] 0000340 Talipes equinovarus Club feet Club foot Clubfeet Clubfoot [ more ] 0001762 Teratoma 0009792 Thickened cortex of long bones 0000935 Ureteral stenosis [rarediseases.info.nih.gov]

• Short Stature

  Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation). [mendelian.co]

  Patients have mainly short stature due to haploinsufficiency of the IGF1R gene. 15q26.1 Deletion. Intractable epilepsy, ID and short stature. Chromosome 16 16p11.2 Deletion/Duplication. [scielo.br]

  stature, and intellectual disabilities) 759.89 Rud's (mental deficiency, epilepsy, and infantilism) 759.89 Russell (-Silver) (congenital hemihypertrophy and short stature) 759.89 Seckel's 759.89 sick Silver's (congenital hemihypertrophy and short stature [icd9data.com]

  stature syndrome SHOX Short stature, microcephaly, and endocrine dysfunction XRCC4 Short stature, optic nerve atrophy, and Pelger-Huet anomaly NBAS SHORT syndrome PIK3R1 Short-rib thoracic dysplasia type 2 with or without polydactyly IFT80 Short-rib [centogene.com]

• Pneumonia

  Key words: Schinzel-Giedion syndrome | Urinary tract infection | Nephrocalcinosis | Klebsiella pneumoniae [chikd.org]

  Recurrent pneumonia, feeding intolerance, and seizures are frequent difficulties in the care of affected children. The underlying genetic defect that causes the condition has not yet been identified. [diseaseinfosearch.org]

  Respiratory complication is frequent with pneumonia and upper airway obstruction. Intravenous access may be difficult with abnormal joint position. [accessanesthesiology.mhmedical.com]

  Death during infancy is due to pneumonia, cardiac arrest, tumors, lung hypoplasia, or seizures. [7] The longest documented survivor is 15 years old.[7] Children with this condition who survive past infancy have a higher risk of developing tumors.[8] Causes [en.wikipedia.org]

  Laryngomalacia Softening of voice box tissue 0001601 Micropenis Short penis Small penis [ more ] 0000054 Myeloid leukemia 0012324 Nephroblastoma 0002667 Nephrolithiasis Kidney stones 0000787 Radioulnar synostosis Fused forearm bones 0002974 Recurrent pneumonia [rarediseases.info.nih.gov]

• Failure to Thrive

  Synopsis failure to thrive postnatal growth deficiency widely patent fontanels and sutures metopic suture extends to nasal root coarse facies high forehead, protruding forehead midface hypoplasia facial hemangioma low-set ears shallow orbits proptosis [humpath.com]

  […] to thrive in infancy Faltering weight in infancy Weight faltering in infancy [ more ] 0001531 Generalized hypertrichosis 0004554 Hydronephrosis 0000126 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Hypoplasia of the corpus callosum [rarediseases.info.nih.gov]

• Macroglossia

  Postnatally, in keeping with a diagnosis of SGS, there were large fontanelles, ocular hypertelorism, a wide, broad forehead, midface retraction, a short, upturned nose, macroglossia, and a short neck. [ncbi.nlm.nih.gov]

  […] patent fontanels and sutures metopic suture extends to nasal root coarse facies high forehead, protruding forehead midface hypoplasia facial hemangioma low-set ears shallow orbits proptosis hypertelorism short nose low nasal bridge anteverted nares macroglossia [humpath.com]

  Signs related to this process generally include distinctive facial features such as retraction of the middle face, wide or bulky forehead, ocular hypertelorism, a short and upward nose and, a wide mouth with macroglossia; broader fontanel at birth; short [ivami.com]

• Severe Short Stature

  […] foot Anxiety Periodontitis Severe short stature Recurrent infections Pneumonia Abnormality of metabolism/homeostasis Cryptorchidism Muscular hypotonia Abnormality of eye movement Kyphosis Widow's peak Increased density of long bones Myalgia Hyperbilirubinemia [mendelian.co]

• Hearing Impairment

  impairment; and sleeping apnea. [ivami.com]

  Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. [mendelian.co]

  Other neurological problems can include severe feeding problems, seizures, or visual or hearing impairment. They may also experience short pauses in breathing during sleep (sleep apnea). [encyclopedia.pub]

  Other neurological problems can include severe feeding problems, seizures, or visual or hearing impairment. Affected individuals can also have abnormalities of organs such as the heart, kidneys, or genitals. [ghr.nlm.nih.gov]

  Visual and hearing impairment may occur as well. Imaging of the head can reveal various anomalies. Around half of the patients exhibit a failure to thrive. [krebs-praedisposition.de]

• Hypertrichosis

  Schinzel-Giedion syndrome is a rare autosomal recessive disorder characterized by coarse facies, midface retraction, hypertrichosis, multiple skeletal anomalies, and cardiac and renal malformations. [ncbi.nlm.nih.gov]

  Schinzel-Giedion syndrome (SGS), first described in 1978, is a rare syndrome characterized by midface retraction, hypertrichosis, multiple skeletal anomalies, and cardiac and renal malformations. [scielo.br]

  Descripción Sumario: Schinzel-Giedion syndrome is a rare autosomal recessive disorder characterized by coarse facies, midface retraction, hypertrichosis, multiple skeletal anomalies, and cardiac and renal malformations. [lareferencia.info]

• Hirsutism

  Characteristic features include: midface retraction, widely patent fontanelles, hirsutism, choanal stenosis, hypospadias with chordae, club feet and broad ribs. [ncbi.nlm.nih.gov]

  Hirsutism disappears and midface retraction becomes less evident with age; In contrast, bitemporal narrowing becomes more evident3. [scielo.br]

  Hirsutism disappears and midface retraction becomes less evident with age; In contrast, bitemporal narrowing becomes more evident 3. Radiological imaging of the kidney. [mediaeducation.club]

• Hypertelorism

  At birth, they presented with coarse face, hypertelorism, and a deep groove under the eyes. Fontanelles and sutures were wide open. Genital abnormalities were present in 2 cases. [ncbi.nlm.nih.gov]

  Coarse facies characterized by midface retraction, bulging forehead, facial hemangiomas, short nose with anteverted nostrils, protruding large tongue, and hypertelorism. Patient usually dies during infancy. Synonym Midface-Retraction Syndrome. [accessanesthesiology.mhmedical.com]

  When polyhydramnios is observed, additional fetal findings such as overlapping fingers, hydrocephalus, hydronephrosis, and very characteristic facial appearance comprising high, prominent forehead, hypertelorism, and depressed nasal root may suggest Schinzel-Giedion [dukespace.lib.duke.edu]

• Short Neck

  Postnatally, in keeping with a diagnosis of SGS, there were large fontanelles, ocular hypertelorism, a wide, broad forehead, midface retraction, a short, upturned nose, macroglossia, and a short neck. [ncbi.nlm.nih.gov]

  […] nose low nasal bridge anteverted nares macroglossia short neck atrial septal defect choanal stenosis hypoplastic first ribs broad ribs long clavicles short sternum hypoplastic nipples hypospadias short penis hypoplastic scrotum hypoplastic labia majora [humpath.com]

• Short Nose

  nose low nasal bridge anteverted nares macroglossia short neck atrial septal defect choanal stenosis hypoplastic first ribs broad ribs long clavicles short sternum hypoplastic nipples hypospadias short penis hypoplastic scrotum hypoplastic labia majora [humpath.com]

  This syndrome is characterized by coarse facial features such as midfacial retraction, bulging forehead, short nose with anteverted nostrils, low-set malformed ears, protruding large tongue, and hypertelorism. [chikd.org]

  The principal symptoms are coarse facies characterised by midface retraction, bulging forehead, facial hemangiomas, short nose with anteverted nostrils, malformed ears, protruding large tongue, and hypertelorism. [whonamedit.com]

  Coarse facies characterized by midface retraction, bulging forehead, facial hemangiomas, short nose with anteverted nostrils, protruding large tongue, and hypertelorism. Patient usually dies during infancy. Synonym Midface-Retraction Syndrome. [accessanesthesiology.mhmedical.com]

• Frontal Bossing

  The orofacial features include coarse facies, frontal bossing, ocular hypertelorism, anterior open bite and macrodontia. [ncbi.nlm.nih.gov]

  0000337 Broad nasal tip Broad tip of nose Broad, upturned nose Increased breadth of nasal tip Increased breadth of tip of nose Increased width of nasal tip Increased width of tip of nose Nasal tip, broad Nasal tip, wide Wide tip of nose [ more ] 0000455 Frontal [rarediseases.info.nih.gov]

• Coarse Face

  At birth, they presented with coarse face, hypertelorism, and a deep groove under the eyes. Fontanelles and sutures were wide open. Genital abnormalities were present in 2 cases. [ncbi.nlm.nih.gov]

  Features present in 11 patients include coarse face, midface retraction, urogenital anomalies, poor skull vault mineralisation and variable anomalies of the long bones. Outcome is poor and mental retardation is the rule among survivors. [link.springer.com]

  Note the rather coarse face with tall forehead, widely patent metopic suture, hypertelorism, shallow orbits, infraorbital folds and anteverted nares. Ear lobes are prominent. [atlasgeneticsoncology.org]

• Seizure

  seizures in several months,8 and no patients developed West syndrome. [docksci.com]

  Examples of treatment would be gastrostomy feeding tubes to facilitate feeding, antibiotics for the frequent urinary tract infections, anti-seizure medications to subdue the seizures, and comfort measures such as oxygen, tranquilizers, or pain relievers [checkorphan.org]

  Examples of supportive methods include the use of gastrostomy feeding tubes to prevent malnutrition, administering antibiotics to treat urinary tract infections, anti-seizure medications to reduce seizures, as well as other comforts aimed at managing [signssymptoms.org]

  We also re-evaluated all the published cases and found that 33% of patients with SGS experienced neonatal seizures and another 25% developed West syndrome in the following months. [ncbi.nlm.nih.gov]

• Language Delays

  Central nervous system involvement with development delay in which expressive language delay is much more obviously affected is the most prominent feature of SGS. [ncbi.nlm.nih.gov]

  Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome. J Med Genet 2011; 48 (02) 117-122 11 Hishimura Y. [thieme-connect.com]

  “Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome”. Journal of Medical Genetics 48 (2): 117–22. [ja.wikipedia.org]

• Convulsions

  Sudden, aimless, uncontrollable discharge of electrical energy in the brain causing convulsions and/or loss of consciousness (epileptic seizures) has been found in most patients with this disorder. [rarediseases.org]

• Cryptorchidism

  Midfacial retraction, frontal bossing, deep groove under the eyes, upturned nose, low-set ears, bilateral cryptorchidism, and generalized hypertrichosis were identified on admission. At the age of 7 months, epileptic spasms in series occurred. [ncbi.nlm.nih.gov]

  […] eruption of teeth, a narrow passage between the nose and throat (choanal stenosis), underdeveloped nipples, abnormal nails of the fingers and toes, extra fingers and/or toes, a clubfoot, a short penis, failure of the testicles to descent into the scrotum (cryptorchidism [rarediseases.org]

• Microphallus

  Skeletal and limb defects, choanal stenosis, simian creases, hypospadias, microphallus, hypertrichosis, and intractable seizures are the frequently associated clinical findings. [chikd.org]

  Choanal stenosis, redundant neck skin, hypoplastic nipples, strial septal defects, hypoplastic dermal ridges, simian creases, hyper convex nails, hypospadias, microphallus, hypertrichosis, and seizures are frequently associated. [whonamedit.com]

Treatment : How to Treat "schinzel-giedion syndrome"? There is no disease-specific treatment for Schinzel-Giedion syndrome. Treatment of affected patients remains largely supportive & unable to reverse the outcome of the disease. [signssymptoms.org]

Treatment - Schinzel Giedion syndrome Treatment is only supportive, and cannot affect the outcome of the disorder. [checkorphan.org]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Frequent infections resulted in a delay in treatment, although apparent fragility had not been observed clinically. He died from tumor progression at 32 months of age. [ncbi.nlm.nih.gov]

Since this disease is quite severe, most treatment is focused on symptoms and relieving pain. [patientworthy.com]

Prognosis - Schinzel Giedion syndrome Not supplied. Treatment - Schinzel Giedion syndrome Treatment is only supportive, and cannot affect the outcome of the disorder. [checkorphan.org]

Nonetheless, considerable overlap exists between the two syndromes in terms of clinical presentation, prognosis, and electroencephalographic signature. [semanticscholar.org]

While SETBP1 overexpression in myeloid malignancies links to poor prognosis, somatic mutations of SETBP1 were not previously identified in leukemias. [bloodjournal.org]

(November 2021) Patients with this can have hydronephrosis, seizures, visual impairments, or alacrima.[5] Sleep apnea may also be present, Prognosis[edit] Most children with condition die before 2 years of age.[6]: 306  With it being estimated that 50% [en.wikipedia.org]

Severe developmental delay and poor prognosis is common to the previous reported cases.2 This report describes neurologic features and the clinical course associated with West syndrome in a female infant with Schinzel-Giedion syndrome. [docksci.com]

The etiology has been traced to mutations in the SETBP1 gene. We report a Filipino patient with features suggestive of Schinzel-Giedion Syndrome and the first to be confirmed through molecular testing. PDF How to Cite 1. [actamedicaphilippina.upm.edu.ph]

They are typically distinguished from each other according to specific clinical and etiologic criteria. [semanticscholar.org]

(Gly870Ser) variant in the etiology of the syndrome. Moreover, although the cohort of SETBP1-patients reported in the literature is still small, our study reports for the first time the prevalence of the variant (about 27%, 7/26). [ijponline.biomedcentral.com]

Pathologic findings are variable and include brain stem nuclear aplasia, facial nerve aplasia, and facial muscle aplasia, consistent with a multifactorial etiology. [icd10data.com]

The etiology of Dubowitz syndrome has not been evidently elucidated. Two causal genes have been put forward in separate isolated cases and include NSUN2 and LIG4. [findzebra.com]

Epidemiology[edit] The exact prevalence of Schinzel-Giedion syndrome is unknown. [en.wikipedia.org]

Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics. JAMA pediatrics, 168(4), 371-377. Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer RE, Correa A (2010). [centogene.com]

Pathophysiology Mutations in SETBP1 located on 18q12.3 and encodes SET binding protein 1. Mutations in this gene are also thought to result in increase in myeloid malignancies. [accessanesthesiology.mhmedical.com]

[…] thought to be a causative mechanism in Schinzel-Giedion syndrome.3 Further, several lines of recurrent evidence suggest that SETBP1 plays a role in leukemogenesis.12-14 Although SETBP1 is a causative gene to be identified molecularly, the underlying pathophysiology [docksci.com]

This deletion includes the MBD5 gene, which is implicated in the pathophysiology of seizures. Stereotyped behaviors are also present and these are similar to Rett syndrome or Angelman syndrome. [scielo.br]

Prevention - Schinzel Giedion syndrome Not supplied. Diagnosis - Schinzel Giedion syndrome There is no genetic or blood test for SGS. [checkorphan.org]

Examples of supportive methods include the use of gastrostomy feeding tubes to prevent malnutrition, administering antibiotics to treat urinary tract infections, anti-seizure medications to reduce seizures, as well as other comforts aimed at managing [signssymptoms.org]

Information on Guillain-Barre Syndrome as a medical condition with Guillain-Barre Syndrome information including symptoms, diagnosis, misdiagnosis, treatment, prevention, and prognosis. [dsnib.co]

Anti-convulsant drugs such as carbamazepine, valproic acid, phenobarbital, clonazepam, ethusuximide, primidone, phenytoin, corticotropin, and corticosteroid drugs are being used to help prevent and control seizures associated with Epilepsy. [rarediseases.org]