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FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome

MedGen UID:
1650412
•Concept ID:
C4751506
•
Disease or Syndrome
Synonyms: FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome; Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome
SNOMED CT: FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome (774070008); Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (774070008)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0018443
Orphanet: ORPHA404451

Definition

A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of delayed motor development, intellectual disability, dysarthria, pseudobulbar signs, cryptorchidism, and syndactyly associated with a FLBN1 gene point mutation. Macular degeneration and signs of brain atrophy and spinal cord compression have also been reported. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome

Professional guidelines

PubMed

A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome.
Duis J, Nespeca M, Summers J, Bird L, Bindels-de Heus KGCB, Valstar MJ, de Wit MY, Navis C, Ten Hooven-Radstaake M, van Iperen-Kolk BM, Ernst S, Dendrinos M, Katz T, Diaz-Medina G, Katyayan A, Nangia S, Thibert R, Glaze D, Keary C, Pelc K, Simon N, Sadhwani A, Heussler H, Wheeler A, Woeber C, DeRamus M, Thomas A, Kertcher E, DeValk L, Kalemeris K, Arps K, Baym C, Harris N, Gorham JP, Bohnsack BL, Chambers RC, Harris S, Chambers HG, Okoniewski K, Jalazo ER, Berent A, Bacino CA, Williams C, Anderson A
Mol Genet Genomic Med 2022 Mar;10(3):e1843. Epub 2022 Feb 11 doi: 10.1002/mgg3.1843. PMID: 35150089Free PMC Article
Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment.
D'Avanzo F, Rigon L, Zanetti A, Tomanin R
Int J Mol Sci 2020 Feb 13;21(4) doi: 10.3390/ijms21041258. PMID: 32070051Free PMC Article
Craniosynostosis - Recognition, clinical characteristics, and treatment.
Kajdic N, Spazzapan P, Velnar T
Bosn J Basic Med Sci 2018 May 20;18(2):110-116. doi: 10.17305/bjbms.2017.2083. PMID: 28623672Free PMC Article

Recent clinical studies

Etiology

SOX10: 20 years of phenotypic plurality and current understanding of its developmental function.
Pingault V, Zerad L, Bertani-Torres W, Bondurand N
J Med Genet 2022 Feb;59(2):105-114. Epub 2021 Oct 19 doi: 10.1136/jmedgenet-2021-108105. PMID: 34667088Free PMC Article
Effects of air pollution on the nervous system and its possible role in neurodevelopmental and neurodegenerative disorders.
Costa LG, Cole TB, Dao K, Chang YC, Coburn J, Garrick JM
Pharmacol Ther 2020 Jun;210:107523. Epub 2020 Mar 9 doi: 10.1016/j.pharmthera.2020.107523. PMID: 32165138Free PMC Article
Does general anesthesia affect neurodevelopment in infants and children?
McCann ME, Soriano SG
BMJ 2019 Dec 9;367:l6459. doi: 10.1136/bmj.l6459. PMID: 31818811
Cannabidiol Adverse Effects and Toxicity.
Huestis MA, Solimini R, Pichini S, Pacifici R, Carlier J, Busardò FP
Curr Neuropharmacol 2019;17(10):974-989. doi: 10.2174/1570159X17666190603171901. PMID: 31161980Free PMC Article
Editorial: Developmental neurotoxicity.
Bal-Price A, Fritsche E
Toxicol Appl Pharmacol 2018 Sep 1;354:1-2. Epub 2018 Jul 17 doi: 10.1016/j.taap.2018.07.016. PMID: 30030094

Diagnosis

Autonomic nervous system dysfunction in Prader-Willi syndrome.
Butler MG, Victor AK, Reiter LT
Clin Auton Res 2023 Jun;33(3):281-286. Epub 2022 Dec 14 doi: 10.1007/s10286-022-00909-7. PMID: 36515769
Nervous system involvement in Pfeiffer syndrome.
Mavridis IN, Rodrigues D
Childs Nerv Syst 2021 Feb;37(2):367-374. Epub 2020 Oct 20 doi: 10.1007/s00381-020-04934-7. PMID: 33083874
Effects of air pollution on the nervous system and its possible role in neurodevelopmental and neurodegenerative disorders.
Costa LG, Cole TB, Dao K, Chang YC, Coburn J, Garrick JM
Pharmacol Ther 2020 Jun;210:107523. Epub 2020 Mar 9 doi: 10.1016/j.pharmthera.2020.107523. PMID: 32165138Free PMC Article
Does general anesthesia affect neurodevelopment in infants and children?
McCann ME, Soriano SG
BMJ 2019 Dec 9;367:l6459. doi: 10.1136/bmj.l6459. PMID: 31818811
Cerebral plasticity: Windows of opportunity in the developing brain.
Ismail FY, Fatemi A, Johnston MV
Eur J Paediatr Neurol 2017 Jan;21(1):23-48. Epub 2016 Aug 9 doi: 10.1016/j.ejpn.2016.07.007. PMID: 27567276

Therapy

Effects of air pollution on the nervous system and its possible role in neurodevelopmental and neurodegenerative disorders.
Costa LG, Cole TB, Dao K, Chang YC, Coburn J, Garrick JM
Pharmacol Ther 2020 Jun;210:107523. Epub 2020 Mar 9 doi: 10.1016/j.pharmthera.2020.107523. PMID: 32165138Free PMC Article
Does general anesthesia affect neurodevelopment in infants and children?
McCann ME, Soriano SG
BMJ 2019 Dec 9;367:l6459. doi: 10.1136/bmj.l6459. PMID: 31818811
Cannabidiol Adverse Effects and Toxicity.
Huestis MA, Solimini R, Pichini S, Pacifici R, Carlier J, Busardò FP
Curr Neuropharmacol 2019;17(10):974-989. doi: 10.2174/1570159X17666190603171901. PMID: 31161980Free PMC Article
Neurobehavioural effects of developmental toxicity.
Grandjean P, Landrigan PJ
Lancet Neurol 2014 Mar;13(3):330-8. Epub 2014 Feb 17 doi: 10.1016/S1474-4422(13)70278-3. PMID: 24556010Free PMC Article
Human alcohol-related neuropathology.
de la Monte SM, Kril JJ
Acta Neuropathol 2014 Jan;127(1):71-90. Epub 2013 Dec 27 doi: 10.1007/s00401-013-1233-3. PMID: 24370929Free PMC Article

Prognosis

Cerebral Folate Deficiency Syndrome: Early Diagnosis, Intervention and Treatment Strategies.
Ramaekers VT, Quadros EV
Nutrients 2022 Jul 28;14(15) doi: 10.3390/nu14153096. PMID: 35956272Free PMC Article
Nervous system involvement in Pfeiffer syndrome.
Mavridis IN, Rodrigues D
Childs Nerv Syst 2021 Feb;37(2):367-374. Epub 2020 Oct 20 doi: 10.1007/s00381-020-04934-7. PMID: 33083874
Perisylvian epileptic network revisited.
Halász P, Kelemen A, Rosdy B, Rásonyi G, Clemens B, Szűcs A
Seizure 2019 Feb;65:31-41. Epub 2018 Dec 21 doi: 10.1016/j.seizure.2018.12.003. PMID: 30605881
Moebius syndrome: clinical features, diagnosis, management and early intervention.
Picciolini O, Porro M, Cattaneo E, Castelletti S, Masera G, Mosca F, Bedeschi MF
Ital J Pediatr 2016 Jun 3;42(1):56. doi: 10.1186/s13052-016-0256-5. PMID: 27260152Free PMC Article
Walker-Warburg syndrome.
Vajsar J, Schachter H
Orphanet J Rare Dis 2006 Aug 3;1:29. doi: 10.1186/1750-1172-1-29. PMID: 16887026Free PMC Article

Clinical prediction guides

SARS-CoV-2 infection causes dopaminergic neuron senescence.
Yang L, Kim TW, Han Y, Nair MS, Harschnitz O, Zhu J, Wang P, Koo SY, Lacko LA, Chandar V, Bram Y, Zhang T, Zhang W, He F, Pan C, Wu J, Huang Y, Evans T, van der Valk P, Titulaer MJ, Spoor JKH, Furler O'Brien RL, Bugiani M, D J Van de Berg W, Schwartz RE, Ho DD, Studer L, Chen S
Cell Stem Cell 2024 Feb 1;31(2):196-211.e6. Epub 2024 Jan 17 doi: 10.1016/j.stem.2023.12.012. PMID: 38237586Free PMC Article
SOX10: 20 years of phenotypic plurality and current understanding of its developmental function.
Pingault V, Zerad L, Bertani-Torres W, Bondurand N
J Med Genet 2022 Feb;59(2):105-114. Epub 2021 Oct 19 doi: 10.1136/jmedgenet-2021-108105. PMID: 34667088Free PMC Article
Pituitary stalk interruption syndrome.
Voutetakis A
Handb Clin Neurol 2021;181:9-27. doi: 10.1016/B978-0-12-820683-6.00002-6. PMID: 34238482
Nervous system involvement in Pfeiffer syndrome.
Mavridis IN, Rodrigues D
Childs Nerv Syst 2021 Feb;37(2):367-374. Epub 2020 Oct 20 doi: 10.1007/s00381-020-04934-7. PMID: 33083874
KBG syndrome.
Brancati F, Sarkozy A, Dallapiccola B
Orphanet J Rare Dis 2006 Dec 12;1:50. doi: 10.1186/1750-1172-1-50. PMID: 17163996Free PMC Article

Recent systematic reviews

The neuropathology of autism: A systematic review of post-mortem studies of autism and related disorders.
Fetit R, Hillary RF, Price DJ, Lawrie SM
Neurosci Biobehav Rev 2021 Oct;129:35-62. Epub 2021 Jul 14 doi: 10.1016/j.neubiorev.2021.07.014. PMID: 34273379
Nervous system involvement in Pfeiffer syndrome.
Mavridis IN, Rodrigues D
Childs Nerv Syst 2021 Feb;37(2):367-374. Epub 2020 Oct 20 doi: 10.1007/s00381-020-04934-7. PMID: 33083874
Central nervous system anomalies in craniofacial microsomia: a systematic review.
Renkema RW, Caron CJJM, Wolvius EB, Dunaway DJ, Forrest CR, Padwa BL, Koudstaal MJ
Int J Oral Maxillofac Surg 2018 Jan;47(1):27-34. Epub 2017 Jul 20 doi: 10.1016/j.ijom.2017.06.009. PMID: 28736116
Methylphenidate for children and adolescents with attention deficit hyperactivity disorder (ADHD).
Storebø OJ, Ramstad E, Krogh HB, Nilausen TD, Skoog M, Holmskov M, Rosendal S, Groth C, Magnusson FL, Moreira-Maia CR, Gillies D, Buch Rasmussen K, Gauci D, Zwi M, Kirubakaran R, Forsbøl B, Simonsen E, Gluud C
Cochrane Database Syst Rev 2015 Nov 25;2015(11):CD009885. doi: 10.1002/14651858.CD009885.pub2. PMID: 26599576Free PMC Article
Neurobehavioural effects of developmental toxicity.
Grandjean P, Landrigan PJ
Lancet Neurol 2014 Mar;13(3):330-8. Epub 2014 Feb 17 doi: 10.1016/S1474-4422(13)70278-3. PMID: 24556010Free PMC Article

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