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Brachydactyly-nystagmus-cerebellar ataxia syndrome

MedGen UID:
350589
Concept ID:
C1862099
Disease or Syndrome
Synonym: Brachydactyly-nystagmus-cerebellar ataxia
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
Monarch Initiative: MONDO:0007226
OMIM®: 113400
Orphanet: ORPHA1246

Definition

A rare multiple congenital anomalies/dysmorphic syndrome characterized by brachydactyly, nystagmus, and cerebellar ataxia. Intellectual deficit and strabismus have also been reported. There have been no further descriptions in the literature since 1934. [from ORDO]

Clinical features

From HPO
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Short metacarpal
MedGen UID:
323064
Concept ID:
C1837084
Anatomical Abnormality
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Short metatarsal
MedGen UID:
341358
Concept ID:
C1849020
Finding
Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBrachydactyly-nystagmus-cerebellar ataxia syndrome
Follow this link to review classifications for Brachydactyly-nystagmus-cerebellar ataxia syndrome in Orphanet.

Professional guidelines

PubMed

Spahiu L, Behluli E, Grajçevci-Uka V, Liehr T, Temaj G
J Mother Child 2022 Mar 1;26(1):118-123. Epub 2023 Feb 22 doi: 10.34763/jmotherandchild.20222601.d-22-00034. PMID: 36803942Free PMC Article
Pedroso JL, Vale TC, Braga-Neto P, Dutra LA, França MC Jr, Teive HAG, Barsottini OGP
Arq Neuropsiquiatr 2019 Mar;77(3):184-193. doi: 10.1590/0004-282X20190020. PMID: 30970132
Levin J, Kurz A, Arzberger T, Giese A, Höglinger GU
Dtsch Arztebl Int 2016 Feb 5;113(5):61-9. doi: 10.3238/arztebl.2016.0061. PMID: 26900156Free PMC Article

Recent clinical studies

Etiology

Wilke C, Pellerin D, Mengel D, Traschütz A, Danzi MC, Dicaire MJ, Neumann M, Lerche H, Bender B, Houlden H; RFC1 study group, Züchner S, Schöls L, Brais B, Synofzik M
Brain 2023 Oct 3;146(10):4144-4157. doi: 10.1093/brain/awad157. PMID: 37165652
Hassan A
Tremor Other Hyperkinet Mov (N Y) 2023;13:9. Epub 2023 Mar 28 doi: 10.5334/tohm.747. PMID: 37008993Free PMC Article
Pedroso JL, Vale TC, Braga-Neto P, Dutra LA, França MC Jr, Teive HAG, Barsottini OGP
Arq Neuropsiquiatr 2019 Mar;77(3):184-193. doi: 10.1590/0004-282X20190020. PMID: 30970132
Bertini E, Zanni G, Boltshauser E
Handb Clin Neurol 2018;155:91-103. doi: 10.1016/B978-0-444-64189-2.00006-8. PMID: 29891079
Joubert B, Rostásy K, Honnorat J
Handb Clin Neurol 2018;155:313-332. doi: 10.1016/B978-0-444-64189-2.00021-4. PMID: 29891069

Diagnosis

Coarelli G, Wirth T, Tranchant C, Koenig M, Durr A, Anheim M
J Neurol 2023 Jan;270(1):208-222. Epub 2022 Sep 24 doi: 10.1007/s00415-022-11383-6. PMID: 36152050Free PMC Article
Rosenthal LS
Continuum (Minneap Minn) 2022 Oct 1;28(5):1409-1434. doi: 10.1212/CON.0000000000001180. PMID: 36222772
Pedroso JL, Vale TC, França Junior MC, Kauffman MA, Teive H, Barsottini OGP, Munhoz RP
Cerebellum 2022 Dec;21(6):1073-1084. Epub 2021 Nov 15 doi: 10.1007/s12311-021-01345-5. PMID: 34782953
Pedroso JL, Vale TC, Braga-Neto P, Dutra LA, França MC Jr, Teive HAG, Barsottini OGP
Arq Neuropsiquiatr 2019 Mar;77(3):184-193. doi: 10.1590/0004-282X20190020. PMID: 30970132
Mitoma H, Manto M, Hampe CS
Curr Neuropharmacol 2019;17(1):33-58. doi: 10.2174/1570159X16666180917105033. PMID: 30221603Free PMC Article

Therapy

Hassan A
Tremor Other Hyperkinet Mov (N Y) 2023;13:9. Epub 2023 Mar 28 doi: 10.5334/tohm.747. PMID: 37008993Free PMC Article
Aaseth J, Alexander J, Alehagen U
Mech Ageing Dev 2021 Jul;197:111521. Epub 2021 Jun 12 doi: 10.1016/j.mad.2021.111521. PMID: 34129891
Le Cann M, Bouhour F, Viala K, Simon L, Tard C, Rossi C, Morel G, Lagrange E, Magy L, Créange A, Michaud M, Franques J, Echaniz-Laguna A, Antoine JC, Baron M, Arnulf B, Puma A, Delmont E, Maisonobe T, Leblond V, Roos-Weil D
Blood 2020 Nov 19;136(21):2428-2436. doi: 10.1182/blood.2020007092. PMID: 32959046
Palmieri B, Vadala' M, Laurino C
Minerva Gastroenterol Dietol 2019 Jun;65(2):153-162. Epub 2018 Dec 14 doi: 10.23736/S1121-421X.18.02519-9. PMID: 30545212
Sudulagunta SR, Sodalagunta MB, Sepehrar M, Khorram H, Bangalore Raja SK, Kothandapani S, Noroozpour Z, Aheta Sham M, Prasad N, Sunny SP, Mohammed MD, Gangadharappa R, Nidsale Sudarshan R
Ger Med Sci 2015;13:Doc16. Epub 2015 Sep 21 doi: 10.3205/000220. PMID: 26421004Free PMC Article

Prognosis

Coarelli G, Wirth T, Tranchant C, Koenig M, Durr A, Anheim M
J Neurol 2023 Jan;270(1):208-222. Epub 2022 Sep 24 doi: 10.1007/s00415-022-11383-6. PMID: 36152050Free PMC Article
Rosenthal LS
Continuum (Minneap Minn) 2022 Oct 1;28(5):1409-1434. doi: 10.1212/CON.0000000000001180. PMID: 36222772
Rossor T, Yeh EA, Khakoo Y, Angelini P, Hemingway C, Irani SR, Schleiermacher G, Santosh P, Lotze T, Dale RC, Deiva K, Hero B, Klein A, de Alarcon P, Gorman MP, Mitchell WG, Lim M; OMS Study Group
Neurol Neuroimmunol Neuroinflamm 2022 May;9(3) Epub 2022 Mar 8 doi: 10.1212/NXI.0000000000001153. PMID: 35260471Free PMC Article
Dade M, Berzero G, Izquierdo C, Giry M, Benazra M, Delattre JY, Psimaras D, Alentorn A
Int J Mol Sci 2020 May 24;21(10) doi: 10.3390/ijms21103701. PMID: 32456344Free PMC Article
Mitoma H, Manto M, Hampe CS
Curr Neuropharmacol 2019;17(1):33-58. doi: 10.2174/1570159X16666180917105033. PMID: 30221603Free PMC Article

Clinical prediction guides

Dominik N, Magri S, Currò R, Abati E, Facchini S, Corbetta M, Macpherson H, Di Bella D, Sarto E, Stevanovski I, Chintalaphani SR, Akcimen F, Manini A, Vegezzi E, Quartesan I, Montgomery KA, Pirota V, Crespan E, Perini C, Grupelli GP, Tomaselli PJ, Marques W; Genomics England Research Consortium, Shaw J, Polke J, Salsano E, Fenu S, Pareyson D, Pisciotta C, Tofaris GK, Nemeth AH, Ealing J, Radunovic A, Kearney S, Kumar KR, Vucic S, Kennerson M, Reilly MM, Houlden H, Deveson I, Tucci A, Taroni F, Cortese A
Brain 2023 Dec 1;146(12):5060-5069. doi: 10.1093/brain/awad240. PMID: 37450567Free PMC Article
Wilke C, Pellerin D, Mengel D, Traschütz A, Danzi MC, Dicaire MJ, Neumann M, Lerche H, Bender B, Houlden H; RFC1 study group, Züchner S, Schöls L, Brais B, Synofzik M
Brain 2023 Oct 3;146(10):4144-4157. doi: 10.1093/brain/awad157. PMID: 37165652
Coarelli G, Wirth T, Tranchant C, Koenig M, Durr A, Anheim M
J Neurol 2023 Jan;270(1):208-222. Epub 2022 Sep 24 doi: 10.1007/s00415-022-11383-6. PMID: 36152050Free PMC Article
Dupré M, Hermann R, Froment Tilikete C
Cerebellum 2021 Oct;20(5):687-700. Epub 2020 Oct 4 doi: 10.1007/s12311-020-01192-w. PMID: 33011895Free PMC Article
Dade M, Berzero G, Izquierdo C, Giry M, Benazra M, Delattre JY, Psimaras D, Alentorn A
Int J Mol Sci 2020 May 24;21(10) doi: 10.3390/ijms21103701. PMID: 32456344Free PMC Article

Recent systematic reviews

Hassan A
Tremor Other Hyperkinet Mov (N Y) 2023;13:9. Epub 2023 Mar 28 doi: 10.5334/tohm.747. PMID: 37008993Free PMC Article
Finsterer J
J Clin Neuromuscul Dis 2023 Mar 1;24(3):140-146. doi: 10.1097/CND.0000000000000422. PMID: 36809201
Shah VP, Oliveira J E Silva L, Farah W, Seisa MO, Balla AK, Christensen A, Farah M, Hasan B, Bellolio F, Murad MH
Acad Emerg Med 2023 May;30(5):552-578. Epub 2023 Jan 22 doi: 10.1111/acem.14630. PMID: 36453134
Campana IG, Silva GD
Cerebellum 2022 Dec;21(6):1085-1091. Epub 2021 Nov 24 doi: 10.1007/s12311-021-01346-4. PMID: 34817790
Martinelli D, Diodato D, Ponzi E, Monné M, Boenzi S, Bertini E, Fiermonte G, Dionisi-Vici C
Orphanet J Rare Dis 2015 Mar 11;10:29. doi: 10.1186/s13023-015-0242-9. PMID: 25874378Free PMC Article

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