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Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome

MedGen UID:
1682668
•Concept ID:
C5190778
•
Disease or Syndrome
Synonyms: BD syndrome; intellectual disability - athetosis - microphthalmia; intellectual disability-athetosis-microphthalmia syndrome; Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome; severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
SNOMED CT: Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome (783005002)
Modes of inheritance:
No inheritance data available
MedGen UID:
989178
•Concept ID:
CN307043
•
Finding
Source: Orphanet
No information is available in the scientific literature on heredity of the clinical entity.
See: This record
No inheritance data available (Orphanet)
 
Monarch Initiative: MONDO:0015252
Orphanet: ORPHA1236

Definition

An extremely rare multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia and cleft palate. The syndrome is associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSevere microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
  • Hereditary ataxia
    • Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome

Professional guidelines

PubMed

Methods and results of neurosurgical treatment of cerebral palsy.
Dekopov AV, Tomsky AA, Isagulyan ED
Zh Vopr Neirokhir Im N N Burdenko 2023;87(3):106-112. doi: 10.17116/neiro202387031106. PMID: 37325833
Neurologic Outcomes After Prenatal Treatment of Twin-Twin Transfusion Syndrome.
Sutton D, Miller R
Clin Perinatol 2020 Dec;47(4):719-731. Epub 2020 Oct 16 doi: 10.1016/j.clp.2020.08.002. PMID: 33153657
Epilepsy: Treatment Options.
Liu G, Slater N, Perkins A
Am Fam Physician 2017 Jul 15;96(2):87-96. PMID: 28762701

Recent clinical studies

Etiology

Hypoxic Ischemic Encephalopathy (HIE) in Term and Preterm Infants.
Ristovska S, Stomnaroska O, Danilovski D
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2022 Apr 22;43(1):77-84. doi: 10.2478/prilozi-2022-0013. PMID: 35451288
Congenital and perinatal infections.
Ostrander B, Bale JF
Handb Clin Neurol 2019;162:133-153. doi: 10.1016/B978-0-444-64029-1.00006-0. PMID: 31324308
The International Federation of Gynecology and Obstetrics (FIGO) initiative on pre-eclampsia: A pragmatic guide for first-trimester screening and prevention.
Poon LC, Shennan A, Hyett JA, Kapur A, Hadar E, Divakar H, McAuliffe F, da Silva Costa F, von Dadelszen P, McIntyre HD, Kihara AB, Di Renzo GC, Romero R, D'Alton M, Berghella V, Nicolaides KH, Hod M
Int J Gynaecol Obstet 2019 May;145 Suppl 1(Suppl 1):1-33. doi: 10.1002/ijgo.12802. PMID: 31111484Free PMC Article
Cerebral palsy.
Colver A, Fairhurst C, Pharoah PO
Lancet 2014 Apr 5;383(9924):1240-9. Epub 2013 Nov 20 doi: 10.1016/S0140-6736(13)61835-8. PMID: 24268104
Pathophysiology of cerebral palsy.
Marret S, Vanhulle C, Laquerriere A
Handb Clin Neurol 2013;111:169-76. doi: 10.1016/B978-0-444-52891-9.00016-6. PMID: 23622161

Diagnosis

Hypoxic Ischemic Encephalopathy (HIE) in Term and Preterm Infants.
Ristovska S, Stomnaroska O, Danilovski D
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2022 Apr 22;43(1):77-84. doi: 10.2478/prilozi-2022-0013. PMID: 35451288
Pediatric Neuromuscular Disorders.
Michel C, Collins C
Pediatr Clin North Am 2020 Feb;67(1):45-57. doi: 10.1016/j.pcl.2019.09.002. PMID: 31779836
Congenital and perinatal infections.
Ostrander B, Bale JF
Handb Clin Neurol 2019;162:133-153. doi: 10.1016/B978-0-444-64029-1.00006-0. PMID: 31324308
The International Federation of Gynecology and Obstetrics (FIGO) initiative on pre-eclampsia: A pragmatic guide for first-trimester screening and prevention.
Poon LC, Shennan A, Hyett JA, Kapur A, Hadar E, Divakar H, McAuliffe F, da Silva Costa F, von Dadelszen P, McIntyre HD, Kihara AB, Di Renzo GC, Romero R, D'Alton M, Berghella V, Nicolaides KH, Hod M
Int J Gynaecol Obstet 2019 May;145 Suppl 1(Suppl 1):1-33. doi: 10.1002/ijgo.12802. PMID: 31111484Free PMC Article
Cerebral palsy.
Colver A, Fairhurst C, Pharoah PO
Lancet 2014 Apr 5;383(9924):1240-9. Epub 2013 Nov 20 doi: 10.1016/S0140-6736(13)61835-8. PMID: 24268104

Therapy

Meconium-stained amniotic fluid.
Gallo DM, Romero R, Bosco M, Gotsch F, Jaiman S, Jung E, Suksai M, Ramón Y Cajal CL, Yoon BH, Chaiworapongsa T
Am J Obstet Gynecol 2023 May;228(5S):S1158-S1178. Epub 2023 Apr 1 doi: 10.1016/j.ajog.2022.11.1283. PMID: 37012128Free PMC Article
Neurological Complications Following COVID-19 Vaccination.
Chatterjee A, Chakravarty A
Curr Neurol Neurosci Rep 2023 Jan;23(1):1-14. Epub 2022 Nov 29 doi: 10.1007/s11910-022-01247-x. PMID: 36445631Free PMC Article
Manual therapy for the pediatric population: a systematic review.
Parnell Prevost C, Gleberzon B, Carleo B, Anderson K, Cark M, Pohlman KA
BMC Complement Altern Med 2019 Mar 13;19(1):60. doi: 10.1186/s12906-019-2447-2. PMID: 30866915Free PMC Article
Epilepsy: Treatment Options.
Liu G, Slater N, Perkins A
Am Fam Physician 2017 Jul 15;96(2):87-96. PMID: 28762701
Cerebral palsy.
Colver A, Fairhurst C, Pharoah PO
Lancet 2014 Apr 5;383(9924):1240-9. Epub 2013 Nov 20 doi: 10.1016/S0140-6736(13)61835-8. PMID: 24268104

Prognosis

Ophthalmic complications of Lemierre syndrome.
Kreuzpointner R, Valerio L, Corsi G, Zane F, Sacco C, Holm K, Righini C, Pecci A, Zweifel S, Barco S
Acta Ophthalmol 2022 Feb;100(1):e314-e320. Epub 2021 Apr 8 doi: 10.1111/aos.14871. PMID: 33829646
The International Federation of Gynecology and Obstetrics (FIGO) initiative on pre-eclampsia: A pragmatic guide for first-trimester screening and prevention.
Poon LC, Shennan A, Hyett JA, Kapur A, Hadar E, Divakar H, McAuliffe F, da Silva Costa F, von Dadelszen P, McIntyre HD, Kihara AB, Di Renzo GC, Romero R, D'Alton M, Berghella V, Nicolaides KH, Hod M
Int J Gynaecol Obstet 2019 May;145 Suppl 1(Suppl 1):1-33. doi: 10.1002/ijgo.12802. PMID: 31111484Free PMC Article
Update on Postnatal Steroids.
Halliday HL
Neonatology 2017;111(4):415-422. Epub 2017 May 25 doi: 10.1159/000458460. PMID: 28538237
Cerebral palsy.
Colver A, Fairhurst C, Pharoah PO
Lancet 2014 Apr 5;383(9924):1240-9. Epub 2013 Nov 20 doi: 10.1016/S0140-6736(13)61835-8. PMID: 24268104
Cerebral palsy--don't delay.
McIntyre S, Morgan C, Walker K, Novak I
Dev Disabil Res Rev 2011;17(2):114-29. doi: 10.1002/ddrr.1106. PMID: 23362031

Clinical prediction guides

Meconium-stained amniotic fluid.
Gallo DM, Romero R, Bosco M, Gotsch F, Jaiman S, Jung E, Suksai M, Ramón Y Cajal CL, Yoon BH, Chaiworapongsa T
Am J Obstet Gynecol 2023 May;228(5S):S1158-S1178. Epub 2023 Apr 1 doi: 10.1016/j.ajog.2022.11.1283. PMID: 37012128Free PMC Article
The International Federation of Gynecology and Obstetrics (FIGO) initiative on pre-eclampsia: A pragmatic guide for first-trimester screening and prevention.
Poon LC, Shennan A, Hyett JA, Kapur A, Hadar E, Divakar H, McAuliffe F, da Silva Costa F, von Dadelszen P, McIntyre HD, Kihara AB, Di Renzo GC, Romero R, D'Alton M, Berghella V, Nicolaides KH, Hod M
Int J Gynaecol Obstet 2019 May;145 Suppl 1(Suppl 1):1-33. doi: 10.1002/ijgo.12802. PMID: 31111484Free PMC Article
A study of the dental treatment needs of special patients: cerebral paralysis and Down syndrome.
Rodríguez Peinado N, Mourelle Martínez MR, Diéguez Pérez M, De Nova García MJ
Eur J Paediatr Dent 2018 Sep;19(3):233-238. doi: 10.23804/ejpd.2018.19.03.12. PMID: 30063157
Pathophysiology of cerebral palsy.
Marret S, Vanhulle C, Laquerriere A
Handb Clin Neurol 2013;111:169-76. doi: 10.1016/B978-0-444-52891-9.00016-6. PMID: 23622161
Cerebral palsy--don't delay.
McIntyre S, Morgan C, Walker K, Novak I
Dev Disabil Res Rev 2011;17(2):114-29. doi: 10.1002/ddrr.1106. PMID: 23362031

Recent systematic reviews

Meconium-stained amniotic fluid.
Gallo DM, Romero R, Bosco M, Gotsch F, Jaiman S, Jung E, Suksai M, Ramón Y Cajal CL, Yoon BH, Chaiworapongsa T
Am J Obstet Gynecol 2023 May;228(5S):S1158-S1178. Epub 2023 Apr 1 doi: 10.1016/j.ajog.2022.11.1283. PMID: 37012128Free PMC Article
Manual therapy for the pediatric population: a systematic review.
Parnell Prevost C, Gleberzon B, Carleo B, Anderson K, Cark M, Pohlman KA
BMC Complement Altern Med 2019 Mar 13;19(1):60. doi: 10.1186/s12906-019-2447-2. PMID: 30866915Free PMC Article
Visual-perceptual impairment in children with cerebral palsy: a systematic review.
Ego A, Lidzba K, Brovedani P, Belmonti V, Gonzalez-Monge S, Boudia B, Ritz A, Cans C
Dev Med Child Neurol 2015 Apr;57 Suppl 2:46-51. doi: 10.1111/dmcn.12687. PMID: 25690117
Therapeutic hypothermia in the prevention of hypoxic-ischaemic encephalopathy: new categories to be enrolled.
Gancia P, Pomero G
J Matern Fetal Neonatal Med 2012 Oct;25 Suppl 4:94-6. doi: 10.3109/14767058.2012.715023. PMID: 22958032
A systematic review of severe morbidity in infants born late preterm.
Teune MJ, Bakhuizen S, Gyamfi Bannerman C, Opmeer BC, van Kaam AH, van Wassenaer AG, Morris JM, Mol BW
Am J Obstet Gynecol 2011 Oct;205(4):374.e1-9. Epub 2011 Jul 20 doi: 10.1016/j.ajog.2011.07.015. PMID: 21864824

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