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]

• 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]

• 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]

• Anterior Open Bite

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

• 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 evident 3. [scielo.br]

  She had bilateral hydronephrosis prenatally diagnosed, distinctive facial appearance, hirsutism, multiple skeletal abnormalities, and severe developmental delay. Brain MRI revealed ventriculomegaly and cortical dysplasia, and thin corpus callosum. [docksci.com]

• Hearing Impairment

  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]

  Delayed teeth eruption Delayed tooth eruption Eruption, delayed Late eruption of teeth Late tooth eruption [ more ] 0000684 High palate Elevated palate Increased palatal height [ more ] 0000218 Hypoplastic pubic bone 0003173 Infantile sensorineural hearing [rarediseases.info.nih.gov]

• 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]

  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]

  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 hypertelorism [humpath.com]

• 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]

  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 hypoplastic labia minora deep interlabial sulcus hymenal [humpath.com]

• 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]

• Karyotype Abnormal

  We report a male infant with Schinzel-Giedion syndrome, also showing the karyotypic abnormality 47,XXY. Agenesis of the corpus callosum and laryngeal stenosis were determined at autopsy. [ncbi.nlm.nih.gov]

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]

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

Prognosis Half of all reported patients were deceased at the time of the initial report. 20% died in the first year, another 17% in the second year and 13% between 2 and 10 years of age. [atlasgeneticsoncology.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]

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

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

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]

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]

[…] 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]

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]

Marshfield, WI 54449, USA (Note : for Links provided by Atlas : click ) Other names Schinzel-Giedion syndrome Atlas_Id 10129 Genes implicated in SETBP1 Note The use of the long form of the name, Schinzel-Giedion midface retraction syndrome, is preferred to prevent [atlasgeneticsoncology.org]