Jacobsen Syndrome: Difference between revisions
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<div class="editorbox">'''Original Editor '''- Rania Nasr '''Top Contributors''' - {{Special:Contributors/{{FULLPAGENAME}}}}</div>'''Lead Editors''' | <div class="editorbox">'''Original Editor '''- Rania Nasr '''Top Contributors''' - {{Special:Contributors/{{FULLPAGENAME}}}}</div>'''Lead Editors''' | ||
== <b> | == <b>Introduction:</b> == | ||
Jacobsen syndrome (JS) is a rare contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11 (1). It was first described by Jacobsen in 1973<ref name=":0">JURCĂ AD, Kozma K, Ioana M, STREAŢĂ I, PETCHEŞI CD, Bembea M, JURCĂ MC, CUC EA, Vesa CM, BUHAŞ CL. [https://www.researchgate.net/publication/323417386_Morphological_and_genetic_abnormalities_in_a_Jacobsen_syndrome Morphological and genetic abnormalities in a Jacobsen syndrome. Rom J Morphol Embryol.] 2017;58(4):1531-4.</ref>.<br><br> | Jacobsen syndrome (JS) is a rare contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11 (1). It was first described by Jacobsen in 1973<ref name=":0">JURCĂ AD, Kozma K, Ioana M, STREAŢĂ I, PETCHEŞI CD, Bembea M, JURCĂ MC, CUC EA, Vesa CM, BUHAŞ CL. [https://www.researchgate.net/publication/323417386_Morphological_and_genetic_abnormalities_in_a_Jacobsen_syndrome Morphological and genetic abnormalities in a Jacobsen syndrome. Rom J Morphol Embryol.] 2017;58(4):1531-4.</ref>. It is also known as 11q terminal deletion disorder because the deletion occurs at the end of the long (q) arm of chromosome 11. <br><br> | ||
== Clinical Presentation | == Clinical Presentation == | ||
[[File:Jacobsen syndrome.JPG|thumb| | [[File:Jacobsen syndrome.JPG|thumb|317x317px|Jacobsen Syndrome]] | ||
# Growth retardation: weight and height below the 5<sup>th</sup> percentile<ref name=":0" />. | |||
# Craniofacial dysmorphism: trigonocephaly, high prominent forehead, flat occiput, thin and brittle hair, down slanting palpebral fissure, palpebral ptosis, epicanthal folds, iris coloboma, arched eyebrows, hyper telorism, small and low set ears, short nose with large and depressed nasal bridge, anteverted nostrils, down turning corners of the mouth, large mouth, high palate, dental anomalies, micrognathia<ref name=":0" />. | |||
# Limbs anomalies: brachydactyly, clinodactyly, comptodactyly, bilateral simian crease, [[Clubfoot, Management and Barriers to treatment in underdeveloped countries.|clubfoot]], muscular atrophy, stiff joints, pectus excavatum, dorsal [[scoliosis]], lumbar lordosis<ref name=":0" />. | |||
# Neuromotor and psychiatric disabilities: delayed standing and walking, language learning difficulties, compulsive, hetero-aggressive and auto-aggressive behavior<ref name=":0" />. Increased possibility of autism spectrum disorder characterized by impaired socialization and communication skills<ref>Akshoomoff N, Mattson SN, Grossfeld PD. [https://www.ncbi.nlm.nih.gov/pubmed/25058499 Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q.] Genetics in Medicine. 2015 Feb;17(2):143.</ref>. | |||
# syndromic primary immune deficiency (SPID)<ref>'''1.''' Dalm VA, Driessen GJ, Barendregt BH, van Hagen PM, van der Burg M. [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4659842/ The 11q terminal deletion disorder jacobsen syndrome is a syndromic primary immunodeficiency.] Journal of clinical immunology. 2015 Nov 1;35(8):761-8.</ref>. | |||
# Most of the people with Jacobsen syndrome are diagnosed with Paris-Trousseau syndrome which is a bleeding disorder<ref>Ichimiya Y, Wada Y, Kunishima S, Tsukamoto K, Kosaki R, Sago H, Ishiguro A, Ito Y. [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5757304/ 11q23 deletion syndrome (Jacobsen syndrome) with severe bleeding: a case report.] Journal of medical case reports. 2018 Dec;12(1):3.</ref>. | |||
# Additional signs and symptoms appears in puberty: primary amenorrhea, genital infantilism, repeated episodes of sinusitis<ref name=":0" />. | |||
== Diagnostic Procedures == | == Diagnostic Procedures == | ||
Diagnosis is based on clinical findings (thrombocytopenia, intellectual deficit, and facial dysmorphic features) and must be confirmed by cytogenetics analysis<ref name=":1">Mattina T, Perrotta CS, Grossfeld P. [https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-4-9 Jacobsen syndrome]. Orphanet journal of rare diseases. 2009 Dec;4(1):9.</ref>. | |||
== Management == | |||
== Management | |||
Jacobsen syndrome is a chromosomal disorder in which children with JS will have a global developmental delays, presented by delayed motor and speech milestones. Hence, they should be referred to physical and/or occupational therapists in order to overcome the [https://www.physio-pedia.com/images/3/39/Cpt._34_Child_development_and_developmental_delay.pdf motor developmental delay]<ref>Noritz GH, Murphy NA. [http://pediatrics.aappublications.org/content/131/6/e2016 Motor delays: early identification and evaluation. Pediatrics]. 2013 May 27:peds-2013.</ref>. | Jacobsen syndrome is a chromosomal disorder in which children with JS will have a global developmental delays, presented by delayed motor and speech milestones. Hence, they should be referred to physical and/or occupational therapists in order to overcome the [https://www.physio-pedia.com/images/3/39/Cpt._34_Child_development_and_developmental_delay.pdf motor developmental delay]<ref>Noritz GH, Murphy NA. [http://pediatrics.aappublications.org/content/131/6/e2016 Motor delays: early identification and evaluation. Pediatrics]. 2013 May 27:peds-2013.</ref>. | ||
Intensive neurodevelopmental treatment ([[Bobath Approach|Bobath approach]]) three times weekly, 60 minutes a day, for 3 months is recommended as it shows improved gross motor function and higher compliance than conventional NDT<ref>Lee KH, Park JW, Lee HJ, Nam KY, Park TJ, Kim HJ, Kwon BS. [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5344832/ Efficacy of intensive neurodevelopmental treatment for children with developmental delay, with or without cerebral palsy. Annals of rehabilitation medicine]. 2017 Feb 1;41(1):90-6.</ref>.<br> | Intensive neurodevelopmental treatment ([[Bobath Approach|Bobath approach]]) three times weekly, 60 minutes a day, for 3 months is recommended as it shows improved gross motor function and higher compliance than conventional NDT<ref>Lee KH, Park JW, Lee HJ, Nam KY, Park TJ, Kim HJ, Kwon BS. [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5344832/ Efficacy of intensive neurodevelopmental treatment for children with developmental delay, with or without cerebral palsy. Annals of rehabilitation medicine]. 2017 Feb 1;41(1):90-6.</ref>.<br> | ||
== Differential Diagnosis | == Differential Diagnosis == | ||
Some of the clinical features of children with Jacobsen syndrome are shared with Tuner and Noonan syndrome; such as short and wide neck, short stature, ptosis, pulmonary or aortic stenosis, and down-slanting palpebral fissure. Some children with JS have had clinical diagnosis of Kabuki syndrome due to mental retardation, unusual palpebral fissures, short stature, and finger-pads<ref name=":1" />.<br> | Some of the clinical features of children with Jacobsen syndrome are shared with Tuner and Noonan syndrome; such as short and wide neck, short stature, ptosis, pulmonary or aortic stenosis, and down-slanting palpebral fissure. Some children with JS have had clinical diagnosis of Kabuki syndrome due to mental retardation, unusual palpebral fissures, short stature, and finger-pads<ref name=":1" />.<br> | ||
== References == | |||
<references /> | <references /> | ||
[[Category:Syndromes]] | [[Category:Syndromes]] | ||
Revision as of 06:10, 28 February 2019
Original Editor - Rania Nasr Top Contributors - Rania Nasr, Rucha Gadgil, Audrey Brown and Kim Jackson
Lead Editors
Introduction:[edit | edit source]
Jacobsen syndrome (JS) is a rare contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11 (1). It was first described by Jacobsen in 1973[1]. It is also known as 11q terminal deletion disorder because the deletion occurs at the end of the long (q) arm of chromosome 11.
Clinical Presentation[edit | edit source]
- Growth retardation: weight and height below the 5th percentile[1].
- Craniofacial dysmorphism: trigonocephaly, high prominent forehead, flat occiput, thin and brittle hair, down slanting palpebral fissure, palpebral ptosis, epicanthal folds, iris coloboma, arched eyebrows, hyper telorism, small and low set ears, short nose with large and depressed nasal bridge, anteverted nostrils, down turning corners of the mouth, large mouth, high palate, dental anomalies, micrognathia[1].
- Limbs anomalies: brachydactyly, clinodactyly, comptodactyly, bilateral simian crease, clubfoot, muscular atrophy, stiff joints, pectus excavatum, dorsal scoliosis, lumbar lordosis[1].
- Neuromotor and psychiatric disabilities: delayed standing and walking, language learning difficulties, compulsive, hetero-aggressive and auto-aggressive behavior[1]. Increased possibility of autism spectrum disorder characterized by impaired socialization and communication skills[2].
- syndromic primary immune deficiency (SPID)[3].
- Most of the people with Jacobsen syndrome are diagnosed with Paris-Trousseau syndrome which is a bleeding disorder[4].
- Additional signs and symptoms appears in puberty: primary amenorrhea, genital infantilism, repeated episodes of sinusitis[1].
Diagnostic Procedures[edit | edit source]
Diagnosis is based on clinical findings (thrombocytopenia, intellectual deficit, and facial dysmorphic features) and must be confirmed by cytogenetics analysis[5].
Management[edit | edit source]
Jacobsen syndrome is a chromosomal disorder in which children with JS will have a global developmental delays, presented by delayed motor and speech milestones. Hence, they should be referred to physical and/or occupational therapists in order to overcome the motor developmental delay[6].
Intensive neurodevelopmental treatment (Bobath approach) three times weekly, 60 minutes a day, for 3 months is recommended as it shows improved gross motor function and higher compliance than conventional NDT[7].
Differential Diagnosis[edit | edit source]
Some of the clinical features of children with Jacobsen syndrome are shared with Tuner and Noonan syndrome; such as short and wide neck, short stature, ptosis, pulmonary or aortic stenosis, and down-slanting palpebral fissure. Some children with JS have had clinical diagnosis of Kabuki syndrome due to mental retardation, unusual palpebral fissures, short stature, and finger-pads[5].
References[edit | edit source]
- ↑ 1.0 1.1 1.2 1.3 1.4 1.5 JURCĂ AD, Kozma K, Ioana M, STREAŢĂ I, PETCHEŞI CD, Bembea M, JURCĂ MC, CUC EA, Vesa CM, BUHAŞ CL. Morphological and genetic abnormalities in a Jacobsen syndrome. Rom J Morphol Embryol. 2017;58(4):1531-4.
- ↑ Akshoomoff N, Mattson SN, Grossfeld PD. Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q. Genetics in Medicine. 2015 Feb;17(2):143.
- ↑ 1. Dalm VA, Driessen GJ, Barendregt BH, van Hagen PM, van der Burg M. The 11q terminal deletion disorder jacobsen syndrome is a syndromic primary immunodeficiency. Journal of clinical immunology. 2015 Nov 1;35(8):761-8.
- ↑ Ichimiya Y, Wada Y, Kunishima S, Tsukamoto K, Kosaki R, Sago H, Ishiguro A, Ito Y. 11q23 deletion syndrome (Jacobsen syndrome) with severe bleeding: a case report. Journal of medical case reports. 2018 Dec;12(1):3.
- ↑ 5.0 5.1 Mattina T, Perrotta CS, Grossfeld P. Jacobsen syndrome. Orphanet journal of rare diseases. 2009 Dec;4(1):9.
- ↑ Noritz GH, Murphy NA. Motor delays: early identification and evaluation. Pediatrics. 2013 May 27:peds-2013.
- ↑ Lee KH, Park JW, Lee HJ, Nam KY, Park TJ, Kim HJ, Kwon BS. Efficacy of intensive neurodevelopmental treatment for children with developmental delay, with or without cerebral palsy. Annals of rehabilitation medicine. 2017 Feb 1;41(1):90-6.
