Seckel Syndrome: Difference between revisions
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== Definition == | == Definition == | ||
Seckel | Seckel syndrome is an extremely rare form of primordial autosomal recessive dwarfism, which is characterised by intrauterine growth retardation, dwarfism, delayed mental development, microcephaly, and bird-headed facial appearance (beaked nose, receding forehead, prominent eyes, and micrognathia). <ref name=":0" /><ref name=":1" /> Some people with Seckel syndrome may also have blood abnormalities,<ref name=":2">Ramasamy C, Satheesh S, Selvaraj R. S[https://pubmed.ncbi.nlm.nih.gov/25186569/ eckel Syndrome with Severe Sinus Bradycardia]. Indian J Pediatr. 2015 Mar 1 [cited 2023 Apr 15];82(3):292–3.</ref> Severe sinus bradycardia,<ref name=":2" /> malignant hypertension,<ref>Di Bartolomeo R, Polidori G, Piastra M, Viola L, Zampino G, Chiaretti A. [https://link.springer.com/article/10.1007/s00431-003-1310-z Malignant hypertension and cerebral haemorrhage in Seckel syndrome]. Eur J Pediatr 2003 16212 [Internet]. 2003 Oct 15;162(12):860–2. </ref> moyamoya-like vasculopathy of the brain<ref>Rahme R, Crevier L, Dubois J, Mercier C. [https://link.springer.com/article/10.1007/s00381-010-1142-x Moyamoya-like vasculopathy and Seckel syndrome: Just a coincidence?] Child’s Nerv Syst. 2010 Jul;26(7):983–6. </ref> and superficial femoral artery stenosis.<ref>Saeidi M, Shahbandari M. [https://www.tandfonline.com/doi/full/10.2147/IMCRJ.S241601 A child with seckel syndrome and arterial stenosis: Case report and literature review.] Int Med Case Rep J. 2020;13:159–63. </ref> | ||
Recent evidence suggests that Seckel syndrome is inherited in an autosomal recessive pattern caused by homozygous or compound heterozygous mutation in the ataxia-telangiectasia and Rad3-related ATR gene.<ref>Vascone C, Meglio F Di, Meglio L Di, Carlo L, Turco L, Vitale SG, et al. [http://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC4510566&blobtype=pdf Antenatal diagnosis of Seckel Syndrome: a rare case report]. J Prenat Med. 2014;8(4):70–2. </ref><ref>Shaheen R, Faqeih E, Ansari S, Abdel-Salam G, Al-Hassnan ZN, Al-Shidi T, et al. [https://pubmed.ncbi.nlm.nih.gov/24389050/ Genomic analysis of primordial dwarfism reveals novel disease genes.] Genome Res [Internet]. 2014 Feb ;24(2):291–9. </ref> It has been linked to harmful changes in genes that are responsible for maintaining genomic stability. The onset is prenatal and continues postnatally causing, severe microcephaly, a bird-like face, dwarfism, and severe intellectual disability.<ref name=":0">[https://rarediseases.org/rare-diseases/seckel-syndrome/#:~:text=Seckel%20syndrome%20is%20rare%20genetic,(microcephaly)%20and%20intellectual%20disability. National Organization for Rare Disorders (NORD]). Seckel Syndrome. Accessed 29/March/2022)</ref><ref name=":1">James Wynbrandt, Mark Ludman. SC Syndrome. In: The Encyclopedia of Genetic Disorders and Birth Defects. Infobase Publishing.FEB 2008. p344</ref> | |||
[[File:Seckel Syndrome.jpg|thumb|Facial features of Seckel Syndrome]] | |||
== Prevalence == | == Prevalence == | ||
Seckel | Seckel syndrome is a rare genetic disorder that affects about <1 in 1 00 000 individuals. It affects males and females equally. There is no confirmed evidence of life expectancy in individuals with Seckel syndrome.<br> | ||
== Etiology == | == Etiology == | ||
Seckel | Seckel syndrome is a rare genetic condition that is inherited in an autosomal recessive manner. Listed below are multiple variations of Seckel syndrome caused by gene mutations on multiple chromosomes. | ||
* Seckel syndrome 1: ataxia-telangiectasia and Rad3-related protein (''ATR'') gene | * Seckel syndrome 1: ataxia-telangiectasia and Rad3-related protein (''ATR'') gene | ||
| Line 24: | Line 27: | ||
* Seckel syndrome 8: DNA 2 protein (''DNA2'') gene | * Seckel syndrome 8: DNA 2 protein (''DNA2'') gene | ||
* Seckel syndrome 9: ATR interacting protein (''ATRIP'') gene | * Seckel syndrome 9: ATR interacting protein (''ATRIP'') gene | ||
* Seckel syndrome 10: SMC5-SMC6 complex SUMO ligase (''NSMCE2'') gene | * Seckel syndrome 10: SMC5-SMC6 complex SUMO ligase (''NSMCE2'') gene<ref name=":0" /><ref>OMIM - Online Mendelian Inheritance in Man. SECKEL SYNDROME 1; SCKL1. Available from: https://omim.org/entry/210600?search=210600&highlight=210600<nowiki/>(accessed 29/March/2022)</ref> | ||
<ref name=":0" /> | |||
== Characteristics/Clinical Presentation == | == Characteristics/Clinical Presentation == | ||
| Line 34: | Line 34: | ||
* Microcephaly | * Microcephaly | ||
* Large eyes | * Large eyes | ||
* Large prominent nose with beak like protrusion | * Large prominent nose with beak-like protrusion | ||
* Narrow face | * Narrow face | ||
* Small brain size | * Small brain size | ||
* Clubfoot | * [[Clubfoot with Post-Surgical Relapse|Clubfoot]] | ||
* Scoliosis | * [[Scoliosis]] | ||
* Cross eyed | * Cross-eyed | ||
* Underdeveloped thumbs | * Underdeveloped thumbs | ||
* Dislocation of the | * Dislocation of the head of the femur head out of the acetabulum | ||
* Malformation of genitourinary system | * Malformation of the genitourinary system | ||
* Intellectual disability (IQ below 50) | * Intellectual disability (IQ below 50)<ref name=":1" /><ref name=":0" /> | ||
{{#ev:youtube|fzr3yjT_3Ds|400}} | |||
<ref>Dr. Waqas Khan. Clinical Presentation of Seckel Syndrome Available from: https://www.youtube.com/watch?v=fzr3yjT_3Ds [last accessed 16/04/2023]</ref> | |||
== Diagnosis == | |||
Seckel syndrome can be diagnosed via : | |||
Genetic testing: used to diagnose prenatally or postnatally, Family history is considered by genetic counselors to determine the chance of developing this syndrome. | |||
[[Ultrasound Scans|Ultrasound]]: Ultrasound can be used to create an image of the developing fetus to detect growth delays in the second trimester of the fetus. Seckel syndrome is suspected if a fetus has a small head, slow growth, and changes to the head and face associated with the condition.<ref>Akkurt MO, Pakay K, Akkurt I, Temur M, Korkmazer E. [https://www.tandfonline.com/doi/abs/10.1080/14767058.2017.1419467 Prenatal diagnosis of Seckel syndrome at 21 weeks’ gestation and review of the literature]. J Matern Neonatal Med. 2019 Jun 3 ;32(11):1905–8. </ref> | |||
After birth, Seckel syndrome can be suspected based on a thorough clinical assessment, detailed patient history and various specialized tests. Although there are distinct craniofacial, skeletal and other physical abnormalities associated with Seckel syndrome<ref>Sisodia R, Raj RKS, Goel V. [https://pubmed.ncbi.nlm.nih.gov/24739918/ Seckel syndrome: a rare case report.] J Indian Soc Pedod Prev Dent .2014 ;32(2):160–3. : </ref> that may be present at birth, In some cases, a diagnosis may not be confirmed until the child grows older and exhibits delays in development associated with an intellectual disability or height. | |||
== Medical Management == | |||
There is no cure for Seckel Syndrome. Treatment is supportive. Therapeutic and Medical management mostly focuses on treating associated hematological abnormalities ([[Anaemia|anemia]], pancytopenia, acute myeloid leukaemia) and providing appropriate social support and counselling services for the individual and the family. | |||
== Physiotherapy Management == | |||
Physiotherapy management for Seckel syndrome focuses on improving the child's physical abilities and quality of life.<ref>Souza J de L, Gois Júnior MB, Garção DC, Souza EC de, Lima IRS, Moreira OSM. [https://rsdjournal.org/index.php/rsd/article/download/25080/22655/301842 Seckel Syndrome: case report of functional motor recovery using proprioceptive neuromuscular facilitation/Kabat Method]. Res Soc Dev. 2022;11(2):e37111225080. </ref> The primary goals of physiotherapy for Seckel syndrome are to maintain mobility and balance, reduce [[Achondroplasia|bone deformities]], improve functional independence, [[Strength Training|strength]], [[Endurance Exercise|endurance]], and stimulate normal [[Motor Control and Learning|motor development]] in children.<ref>Dhymas A, Martha D, Ayu G, Windiani T, Arimbawa M, Agung G, et al. [https://oamjms.eu/index.php/mjms/article/view/10988 Case of Seckel Syndrome in a 9-month-old Girl.] 2023;11(C):6–10. </ref> However, no specific evidence is available on common physiotherapy interventions for Seckel Syndrome. | |||
== References == | == References == | ||
<references /> | <references /> | ||
[[Category:Genetic Disorders]] | |||
Latest revision as of 04:57, 17 April 2023
Original Editor - User: Sukhi Dhaliwal
Top Contributors - Ravi Kumar, Sukhi Dhaliwal, Uchechukwu Chukwuemeka, Kim Jackson and Vidya Acharya
Top Contributors - Ravi Kumar, Sukhi Dhaliwal, Uchechukwu Chukwuemeka, Kim Jackson and Vidya Acharya
Definition[edit | edit source]
Seckel syndrome is an extremely rare form of primordial autosomal recessive dwarfism, which is characterised by intrauterine growth retardation, dwarfism, delayed mental development, microcephaly, and bird-headed facial appearance (beaked nose, receding forehead, prominent eyes, and micrognathia). [1][2] Some people with Seckel syndrome may also have blood abnormalities,[3] Severe sinus bradycardia,[3] malignant hypertension,[4] moyamoya-like vasculopathy of the brain[5] and superficial femoral artery stenosis.[6]
Recent evidence suggests that Seckel syndrome is inherited in an autosomal recessive pattern caused by homozygous or compound heterozygous mutation in the ataxia-telangiectasia and Rad3-related ATR gene.[7][8] It has been linked to harmful changes in genes that are responsible for maintaining genomic stability. The onset is prenatal and continues postnatally causing, severe microcephaly, a bird-like face, dwarfism, and severe intellectual disability.[1][2]
Prevalence[edit | edit source]
Seckel syndrome is a rare genetic disorder that affects about <1 in 1 00 000 individuals. It affects males and females equally. There is no confirmed evidence of life expectancy in individuals with Seckel syndrome.
Etiology[edit | edit source]
Seckel syndrome is a rare genetic condition that is inherited in an autosomal recessive manner. Listed below are multiple variations of Seckel syndrome caused by gene mutations on multiple chromosomes.
- Seckel syndrome 1: ataxia-telangiectasia and Rad3-related protein (ATR) gene
- Seckel syndrome 2: RB binding protein 8 (RBBP8) gene
- Seckel syndrome 4: centromere protein J (CENPJ) gene
- Seckel syndrome 5: centrosomal protein 152 (CEP152) gene
- Seckel syndrome 6: centrosomal protein 63 (CEP63) gene
- Seckel syndrome 7: ninein (NIN) gene
- Seckel syndrome 8: DNA 2 protein (DNA2) gene
- Seckel syndrome 9: ATR interacting protein (ATRIP) gene
- Seckel syndrome 10: SMC5-SMC6 complex SUMO ligase (NSMCE2) gene[1][9]
Characteristics/Clinical Presentation[edit | edit source]
- Low birth weight
- Dwarfism
- Microcephaly
- Large eyes
- Large prominent nose with beak-like protrusion
- Narrow face
- Small brain size
- Clubfoot
- Scoliosis
- Cross-eyed
- Underdeveloped thumbs
- Dislocation of the head of the femur head out of the acetabulum
- Malformation of the genitourinary system
- Intellectual disability (IQ below 50)[2][1]
Diagnosis[edit | edit source]
Seckel syndrome can be diagnosed via :
Genetic testing: used to diagnose prenatally or postnatally, Family history is considered by genetic counselors to determine the chance of developing this syndrome.
Ultrasound: Ultrasound can be used to create an image of the developing fetus to detect growth delays in the second trimester of the fetus. Seckel syndrome is suspected if a fetus has a small head, slow growth, and changes to the head and face associated with the condition.[11]
After birth, Seckel syndrome can be suspected based on a thorough clinical assessment, detailed patient history and various specialized tests. Although there are distinct craniofacial, skeletal and other physical abnormalities associated with Seckel syndrome[12] that may be present at birth, In some cases, a diagnosis may not be confirmed until the child grows older and exhibits delays in development associated with an intellectual disability or height.
Medical Management[edit | edit source]
There is no cure for Seckel Syndrome. Treatment is supportive. Therapeutic and Medical management mostly focuses on treating associated hematological abnormalities (anemia, pancytopenia, acute myeloid leukaemia) and providing appropriate social support and counselling services for the individual and the family.
Physiotherapy Management[edit | edit source]
Physiotherapy management for Seckel syndrome focuses on improving the child's physical abilities and quality of life.[13] The primary goals of physiotherapy for Seckel syndrome are to maintain mobility and balance, reduce bone deformities, improve functional independence, strength, endurance, and stimulate normal motor development in children.[14] However, no specific evidence is available on common physiotherapy interventions for Seckel Syndrome.
References[edit | edit source]
- ↑ 1.0 1.1 1.2 1.3 National Organization for Rare Disorders (NORD). Seckel Syndrome. Accessed 29/March/2022)
- ↑ 2.0 2.1 2.2 James Wynbrandt, Mark Ludman. SC Syndrome. In: The Encyclopedia of Genetic Disorders and Birth Defects. Infobase Publishing.FEB 2008. p344
- ↑ 3.0 3.1 Ramasamy C, Satheesh S, Selvaraj R. Seckel Syndrome with Severe Sinus Bradycardia. Indian J Pediatr. 2015 Mar 1 [cited 2023 Apr 15];82(3):292–3.
- ↑ Di Bartolomeo R, Polidori G, Piastra M, Viola L, Zampino G, Chiaretti A. Malignant hypertension and cerebral haemorrhage in Seckel syndrome. Eur J Pediatr 2003 16212 [Internet]. 2003 Oct 15;162(12):860–2.
- ↑ Rahme R, Crevier L, Dubois J, Mercier C. Moyamoya-like vasculopathy and Seckel syndrome: Just a coincidence? Child’s Nerv Syst. 2010 Jul;26(7):983–6.
- ↑ Saeidi M, Shahbandari M. A child with seckel syndrome and arterial stenosis: Case report and literature review. Int Med Case Rep J. 2020;13:159–63.
- ↑ Vascone C, Meglio F Di, Meglio L Di, Carlo L, Turco L, Vitale SG, et al. Antenatal diagnosis of Seckel Syndrome: a rare case report. J Prenat Med. 2014;8(4):70–2.
- ↑ Shaheen R, Faqeih E, Ansari S, Abdel-Salam G, Al-Hassnan ZN, Al-Shidi T, et al. Genomic analysis of primordial dwarfism reveals novel disease genes. Genome Res [Internet]. 2014 Feb ;24(2):291–9.
- ↑ OMIM - Online Mendelian Inheritance in Man. SECKEL SYNDROME 1; SCKL1. Available from: https://omim.org/entry/210600?search=210600&highlight=210600(accessed 29/March/2022)
- ↑ Dr. Waqas Khan. Clinical Presentation of Seckel Syndrome Available from: https://www.youtube.com/watch?v=fzr3yjT_3Ds [last accessed 16/04/2023]
- ↑ Akkurt MO, Pakay K, Akkurt I, Temur M, Korkmazer E. Prenatal diagnosis of Seckel syndrome at 21 weeks’ gestation and review of the literature. J Matern Neonatal Med. 2019 Jun 3 ;32(11):1905–8.
- ↑ Sisodia R, Raj RKS, Goel V. Seckel syndrome: a rare case report. J Indian Soc Pedod Prev Dent .2014 ;32(2):160–3. :
- ↑ Souza J de L, Gois Júnior MB, Garção DC, Souza EC de, Lima IRS, Moreira OSM. Seckel Syndrome: case report of functional motor recovery using proprioceptive neuromuscular facilitation/Kabat Method. Res Soc Dev. 2022;11(2):e37111225080.
- ↑ Dhymas A, Martha D, Ayu G, Windiani T, Arimbawa M, Agung G, et al. Case of Seckel Syndrome in a 9-month-old Girl. 2023;11(C):6–10.
