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Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome

MedGen UID:
928493
•Concept ID:
C4302824
•
Disease or Syndrome
Synonyms: Al Gazali Nair syndrome; Al Gazali Sabrinathan Nair syndrome; Al Gazali-Nair syndrome; osteogenesis imperfecta retinopathy seizures intellectual deficit; Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome; osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
SNOMED CT: Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (722110003); Al Gazali Nair syndrome (722110003)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Unknown inheritance (Orphanet)
 
Monarch Initiative: MONDO:0017196
Orphanet: ORPHA2773

Definition

This syndrome has characteristics of osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two siblings born to consanguineous parents. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOsteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome

Professional guidelines

PubMed

Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.
Murakami H, Tsurusaki Y, Enomoto K, Kuroda Y, Yokoi T, Furuya N, Yoshihashi H, Minatogawa M, Abe-Hatano C, Ohashi I, Nishimura N, Kumaki T, Enomoto Y, Naruto T, Iwasaki F, Harada N, Ishikawa A, Kawame H, Sameshima K, Yamaguchi Y, Kobayashi M, Tominaga M, Ishikiriyama S, Tanaka T, Suzumura H, Ninomiya S, Kondo A, Kaname T, Kosaki K, Masuno M, Kuroki Y, Kurosawa K
Am J Med Genet A 2020 Oct;182(10):2333-2344. Epub 2020 Aug 17 doi: 10.1002/ajmg.a.61793. PMID: 32803813
Does Whole-Body Vibration Treatment Make Children's Bones Stronger?
Swolin-Eide D, Magnusson P
Curr Osteoporos Rep 2020 Oct;18(5):471-479. doi: 10.1007/s11914-020-00608-0. PMID: 32696294Free PMC Article
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Whalen S, Heide S, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, Schrier Vergano SA, Kenney A, Hove H, DeChene E, Quinonez SC, Colin E, Ziegler A, Rumple M, Jain M, Monteil D, Roeder ER, Nugent K, van Haeringen A, Gambello M, Santani A, Medne L, Krock B, Skraban CM, Zackai EH, Dubbs HA, Smol T, Ghoumid J, Parker MJ, Wright M, Turnpenny P, Clayton-Smith J, Metcalfe K, Kurumizaka H, Gelb BD, Baris Feldman H, Campeau PM, Muenke M, Wade PA, Lachlan K
Genet Med 2020 Feb;22(2):389-397. Epub 2019 Aug 7 doi: 10.1038/s41436-019-0612-0. PMID: 31388190Free PMC Article

Recent clinical studies

Etiology

Aging and Bone Metabolism.
Pignolo RJ
Compr Physiol 2023 Jan 30;13(1):4355-4386. doi: 10.1002/cphy.c220012. PMID: 36715278
Expansion and compression distraction osteogenesis based on volumetric and neurodevelopmental analysis in sagittal craniosynostosis.
Lee MC, Shim KW, Park EK, Yun IS, Kim DS, Kim YO
Childs Nerv Syst 2015 Nov;31(11):2081-9. Epub 2015 Aug 1 doi: 10.1007/s00381-015-2843-y. PMID: 26231567
Monobloc and bipartition in craniofacial surgery.
Cobb AR, Boavida P, Docherty R, Dunaway D, Saunders DE, Jeelani O, Hayward RD
J Craniofac Surg 2013 Jan;24(1):242-6. doi: 10.1097/SCS.0b013e31827001fe. PMID: 23348293
Urinary stone disease in the first year of life: is it dangerous?
Alpay H, Gokce I, Özen A, Bıyıklı N
Pediatr Surg Int 2013 Mar;29(3):311-6. Epub 2012 Dec 25 doi: 10.1007/s00383-012-3235-y. PMID: 23266717
Anesthesia considerations for patients with de Barsy syndrome.
Aponte EP, Smith HM, Wanek BJ, Rettke SR
J Clin Anesth 2010 Nov;22(7):499-504. doi: 10.1016/j.jclinane.2010.01.004. PMID: 21056805

Diagnosis

Clinical-functional features of individuals with Osteogenesis Imperfecta and Ehlers-Danlos syndromes: A scoping review of assessment tools and ICF model.
Labanca L, Brizola E, Luciani D, Luppi G, Sangiorgi L, Benedetti MG
Musculoskelet Sci Pract 2023 Apr;64:102742. Epub 2023 Mar 4 doi: 10.1016/j.msksp.2023.102742. PMID: 36905741
Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.
Murakami H, Tsurusaki Y, Enomoto K, Kuroda Y, Yokoi T, Furuya N, Yoshihashi H, Minatogawa M, Abe-Hatano C, Ohashi I, Nishimura N, Kumaki T, Enomoto Y, Naruto T, Iwasaki F, Harada N, Ishikawa A, Kawame H, Sameshima K, Yamaguchi Y, Kobayashi M, Tominaga M, Ishikiriyama S, Tanaka T, Suzumura H, Ninomiya S, Kondo A, Kaname T, Kosaki K, Masuno M, Kuroki Y, Kurosawa K
Am J Med Genet A 2020 Oct;182(10):2333-2344. Epub 2020 Aug 17 doi: 10.1002/ajmg.a.61793. PMID: 32803813
Genome-first approach for the characterization of a complex phenotype with combined NBAS and CUL4B deficiency.
Ritelli M, Palagano E, Cinquina V, Beccagutti F, Chiarelli N, Strina D, Hall IF, Villa A, Sobacchi C, Colombi M
Bone 2020 Nov;140:115571. Epub 2020 Aug 6 doi: 10.1016/j.bone.2020.115571. PMID: 32768688
Comprehensive analysis of syndromic hearing loss patients in Japan.
Ideura M, Nishio SY, Moteki H, Takumi Y, Miyagawa M, Sato T, Kobayashi Y, Ohyama K, Oda K, Matsui T, Ito T, Suzumura H, Nagai K, Izumi S, Nishiyama N, Komori M, Kumakawa K, Takeda H, Kishimoto Y, Iwasaki S, Furutate S, Ishikawa K, Fujioka M, Nakanishi H, Nakayama J, Horie R, Ohta Y, Naito Y, Kakudo M, Sakaguchi H, Kataoka Y, Sugahara K, Hato N, Nakagawa T, Tsuchihashi N, Kanda Y, Kihara C, Tono T, Miyanohara I, Ganaha A, Usami SI
Sci Rep 2019 Aug 19;9(1):11976. doi: 10.1038/s41598-019-47141-4. PMID: 31427586Free PMC Article
Expansion and compression distraction osteogenesis based on volumetric and neurodevelopmental analysis in sagittal craniosynostosis.
Lee MC, Shim KW, Park EK, Yun IS, Kim DS, Kim YO
Childs Nerv Syst 2015 Nov;31(11):2081-9. Epub 2015 Aug 1 doi: 10.1007/s00381-015-2843-y. PMID: 26231567

Therapy

Does Whole-Body Vibration Treatment Make Children's Bones Stronger?
Swolin-Eide D, Magnusson P
Curr Osteoporos Rep 2020 Oct;18(5):471-479. doi: 10.1007/s11914-020-00608-0. PMID: 32696294Free PMC Article
Monobloc and bipartition in craniofacial surgery.
Cobb AR, Boavida P, Docherty R, Dunaway D, Saunders DE, Jeelani O, Hayward RD
J Craniofac Surg 2013 Jan;24(1):242-6. doi: 10.1097/SCS.0b013e31827001fe. PMID: 23348293
Anesthesia considerations for patients with de Barsy syndrome.
Aponte EP, Smith HM, Wanek BJ, Rettke SR
J Clin Anesth 2010 Nov;22(7):499-504. doi: 10.1016/j.jclinane.2010.01.004. PMID: 21056805
Complications related to the administration of general anesthesia in 600 developmentally disabled dental patients.
Libman RH, Coke JM, Cohen L
J Am Dent Assoc 1979 Aug;99(2):190-3. doi: 10.14219/jada.archive.1979.0259. PMID: 156747

Prognosis

A Signature of Circulating miRNAs Associated With Fibrous Dysplasia of Bone: the mirDys Study.
Legrand MA, Millet M, Merle B, Rousseau JC, Hemmendinger A, Gineyts E, Sornay-Rendu E, Szulc P, Borel O, Croset M, Chapurlat R
J Bone Miner Res 2020 Oct;35(10):1881-1892. Epub 2020 Jul 21 doi: 10.1002/jbmr.4111. PMID: 32526052
Expansion and compression distraction osteogenesis based on volumetric and neurodevelopmental analysis in sagittal craniosynostosis.
Lee MC, Shim KW, Park EK, Yun IS, Kim DS, Kim YO
Childs Nerv Syst 2015 Nov;31(11):2081-9. Epub 2015 Aug 1 doi: 10.1007/s00381-015-2843-y. PMID: 26231567
Modification of mandibular advancement osteotomy in a patient with Hanhart syndrome.
Uğurlu K, Sevim KZ, Akcal A, Karsidag S
J Craniofac Surg 2013 Nov;24(6):2162-6. doi: 10.1097/SCS.0b013e3182a2b80e. PMID: 24220429
Osteogenesis imperfecta.
Smith R
Clin Rheum Dis 1986 Dec;12(3):655-89. PMID: 3078778

Clinical prediction guides

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Whalen S, Heide S, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, Schrier Vergano SA, Kenney A, Hove H, DeChene E, Quinonez SC, Colin E, Ziegler A, Rumple M, Jain M, Monteil D, Roeder ER, Nugent K, van Haeringen A, Gambello M, Santani A, Medne L, Krock B, Skraban CM, Zackai EH, Dubbs HA, Smol T, Ghoumid J, Parker MJ, Wright M, Turnpenny P, Clayton-Smith J, Metcalfe K, Kurumizaka H, Gelb BD, Baris Feldman H, Campeau PM, Muenke M, Wade PA, Lachlan K
Genet Med 2020 Feb;22(2):389-397. Epub 2019 Aug 7 doi: 10.1038/s41436-019-0612-0. PMID: 31388190Free PMC Article
Osteogenesis Imperfecta Type I Caused by COL1A1 Deletions.
Bardai G, Lemyre E, Moffatt P, Palomo T, Glorieux FH, Tung J, Ward L, Rauch F
Calcif Tissue Int 2016 Jan;98(1):76-84. doi: 10.1007/s00223-015-0066-6. PMID: 26478226
Expansion and compression distraction osteogenesis based on volumetric and neurodevelopmental analysis in sagittal craniosynostosis.
Lee MC, Shim KW, Park EK, Yun IS, Kim DS, Kim YO
Childs Nerv Syst 2015 Nov;31(11):2081-9. Epub 2015 Aug 1 doi: 10.1007/s00381-015-2843-y. PMID: 26231567
Urinary stone disease in the first year of life: is it dangerous?
Alpay H, Gokce I, Özen A, Bıyıklı N
Pediatr Surg Int 2013 Mar;29(3):311-6. Epub 2012 Dec 25 doi: 10.1007/s00383-012-3235-y. PMID: 23266717
Anesthesia considerations for patients with de Barsy syndrome.
Aponte EP, Smith HM, Wanek BJ, Rettke SR
J Clin Anesth 2010 Nov;22(7):499-504. doi: 10.1016/j.jclinane.2010.01.004. PMID: 21056805

Recent systematic reviews

Molecular, phenotypic aspects and therapeutic horizons of rare genetic bone disorders.
Faruqi T, Dhawan N, Bahl J, Gupta V, Vohra S, Tu K, Abdelmagid SM
Biomed Res Int 2014;2014:670842. Epub 2014 Oct 22 doi: 10.1155/2014/670842. PMID: 25530967Free PMC Article

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