Schinzel–Giedion syndrome: Difference between revisions

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{{Infobox medical condition (new)
{{Infobox medical condition
| name           = Schinzel–Giedion syndrome
| name = Schinzel–Giedion syndrome
| synonyms        =  
| image = <!-- No image available -->
| image           = Autosomal dominant - en.svg
| caption =  
| image_size      = 150px
| field = [[Medical genetics]]
| caption         = This condition is inherited in an autosomal dominant manner
| symptoms = Severe developmental delay, distinctive facial features, skeletal abnormalities
| pronounce      =  
| onset = Congenital
| field           = neurology
| duration = Lifelong
| symptoms       =
| causes = [[Genetic mutation]]
| complications  =  
| diagnosis = [[Genetic testing]], clinical evaluation
| onset           =  
| treatment = Supportive care
| duration       =
| prognosis = Poor
| types          =  
| causes         =
| risks          =  
| diagnosis       =
| differential    =
| prevention      =  
| treatment       =
| medication      =  
| prognosis       =
| frequency      =
| deaths          =  
}}
}}
'''Schinzel–Giedion syndrome''' is a [[congenital]] [[neurodegenerative]] terminal syndrome.  First described in 1978 by Dr. Albert Schinzel (1944- )and Dr. Andreas Giedion (1925- )<ref>{{WhoNamedIt|synd|1866}}</ref><ref name="pmid665725">{{cite journal |vauthors=Schinzel A, Giedion A |title=A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs |journal=Am. J. Med. Genet. |volume=1 |issue=4 |pages=361–75 |year=1978 |pmid=665725 |doi=10.1002/ajmg.1320010402 |url=}}</ref> as a syndrome with severe midface retraction, skull anomalies, renal anomalies ([[hydronephrosis]]) and other anomalies.  Babies born with Schinzel–Giedion syndrome have severe [[mental retardation]], growth retardation (unless fed through a feeding tube) and global developmental delay.{{citation needed|date=January 2019}}


==See also==
'''Schinzel–Giedion syndrome''' is a rare [[genetic disorder]] characterized by severe developmental delay, distinctive facial features, and multiple congenital anomalies. It is caused by mutations in the [[SETBP1]] gene, which plays a role in [[chromatin remodeling]] and [[gene expression]].
* [[SETBP1]]


==References==
== Clinical Features ==
{{reflist}}
Individuals with Schinzel–Giedion syndrome typically present with a range of clinical features, including:


== External links ==
* '''[[Distinctive facial features]]''': These may include a prominent forehead, midface hypoplasia, hypertelorism (wide-set eyes), and a short nose with a broad nasal bridge.
{{Medical resources
* '''[[Skeletal abnormalities]]''': These can include [[craniosynostosis]], [[scoliosis]], and other bone malformations.
|  DiseasesDB    = 32570
* '''[[Neurological issues]]''': Severe developmental delay and intellectual disability are common. Seizures may also occur.
|  ICD10          =
* '''[[Renal and urogenital anomalies]]''': Hydronephrosis and other kidney abnormalities are often present.
|  ICD9          =
* '''[[Other anomalies]]''': These may include [[congenital heart defects]], [[hearing loss]], and [[gastrointestinal]] issues.
|  ICDO          = 
 
|  OMIM          = 269150
== Genetics ==
|  MedlinePlus    =
Schinzel–Giedion syndrome is caused by de novo mutations in the [[SETBP1]] gene located on chromosome 18. These mutations are typically not inherited from the parents but occur spontaneously. The [[SETBP1]] gene is involved in regulating the expression of other genes, and mutations can disrupt normal development.
|  eMedicineSubj  =
 
|  eMedicineTopic =
== Diagnosis ==
|  MeshID        =  
Diagnosis of Schinzel–Giedion syndrome is based on clinical evaluation and confirmed by genetic testing. The presence of characteristic physical features and developmental delays may prompt genetic testing to identify mutations in the [[SETBP1]] gene.
}}


* [http://www.omim.org/entry/269150?search=number%3A%28269150%20OR%20611060%29&highlight=611060%20269150  OMIM entry on Schinzel-Giedion Midface Retraction Syndrom]
== Management ==
There is no cure for Schinzel–Giedion syndrome, and treatment is primarily supportive. Management may include:


* '''[[Multidisciplinary care]]''': Involving specialists such as [[pediatricians]], [[neurologists]], [[geneticists]], and [[orthopedic surgeons]].
* '''[[Seizure management]]''': Antiepileptic drugs may be used to control seizures.
* '''[[Physical and occupational therapy]]''': To support developmental progress and improve quality of life.
* '''[[Surgical interventions]]''': May be necessary for correcting skeletal or renal anomalies.


{{Nucleus diseases}}
== Prognosis ==
The prognosis for individuals with Schinzel–Giedion syndrome is generally poor, with many affected individuals experiencing severe health challenges and reduced life expectancy. Early intervention and supportive care can improve quality of life.


{{DEFAULTSORT:Schinzel-Giedion syndrome}}
== Also see ==
[[Category:Nucleus diseases]]
* [[SETBP1 disorder]]
[[Category:Syndromes with mental retardation]]
* [[Craniosynostosis]]
* [[Developmental delay]]
* [[Genetic testing]]


{{Rare diseases}}
{{Genetic disorders}}


{{nervoussystem-disease-stub}}
[[Category:Genetic disorders]]
[[Category:Rare diseases]]
[[Category:Congenital disorders]]

Latest revision as of 23:47, 11 December 2024

Schinzel–Giedion syndrome
Synonyms N/A
Pronounce N/A
Specialty N/A
Symptoms Severe developmental delay, distinctive facial features, skeletal abnormalities
Complications N/A
Onset Congenital
Duration Lifelong
Types N/A
Causes Genetic mutation
Risks N/A
Diagnosis Genetic testing, clinical evaluation
Differential diagnosis N/A
Prevention N/A
Treatment Supportive care
Medication N/A
Prognosis Poor
Frequency N/A
Deaths N/A


Schinzel–Giedion syndrome is a rare genetic disorder characterized by severe developmental delay, distinctive facial features, and multiple congenital anomalies. It is caused by mutations in the SETBP1 gene, which plays a role in chromatin remodeling and gene expression.

Clinical Features[edit]

Individuals with Schinzel–Giedion syndrome typically present with a range of clinical features, including:

Genetics[edit]

Schinzel–Giedion syndrome is caused by de novo mutations in the SETBP1 gene located on chromosome 18. These mutations are typically not inherited from the parents but occur spontaneously. The SETBP1 gene is involved in regulating the expression of other genes, and mutations can disrupt normal development.

Diagnosis[edit]

Diagnosis of Schinzel–Giedion syndrome is based on clinical evaluation and confirmed by genetic testing. The presence of characteristic physical features and developmental delays may prompt genetic testing to identify mutations in the SETBP1 gene.

Management[edit]

There is no cure for Schinzel–Giedion syndrome, and treatment is primarily supportive. Management may include:

Prognosis[edit]

The prognosis for individuals with Schinzel–Giedion syndrome is generally poor, with many affected individuals experiencing severe health challenges and reduced life expectancy. Early intervention and supportive care can improve quality of life.

Also see[edit]

NIH genetic and rare disease info[edit]

Schinzel–Giedion syndrome is a rare disease.

Rare and genetic diseases

Rare diseases - Schinzel–Giedion syndrome

A-Z list of rare diseases
* 0-9 | A - B - C - D - E - F - G - H - I - J - K - L - M - N - O - P - Q - R - S - T - U - V - W - X - Y - Z
Also see
Resources


Genetic disorders relating to deficiencies of transcription factor or coregulators
(1) Basic domains
(2) Zinc finger
DNA-binding domains
(3) Helix-turn-helix domains
3.1
3.2
3.3
3.5
(4) β-Scaffold factors
with minor groove contacts
(0) Other transcription factors
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