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Joubert syndrome 18(JBTS18)

MedGen UID:
766672
Concept ID:
C3553758
Disease or Syndrome
Synonyms: JBTS18; TCTN3-Related Joubert Syndrome
 
Gene (location): TCTN3 (10q24.1)
 
Monarch Initiative: MONDO:0013896
OMIM®: 614815

Disease characteristics

Excerpted from the GeneReview: Joubert Syndrome
Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen. [from GeneReviews]
Authors:
Melissa Parisi  |  Ian Glass   view full author information

Clinical features

From HPO
Horseshoe kidney
MedGen UID:
65140
Concept ID:
C0221353
Congenital Abnormality
A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.
Renal cyst
MedGen UID:
854361
Concept ID:
C3887499
Disease or Syndrome
A fluid filled sac in the kidney.
Clubfoot
MedGen UID:
3130
Concept ID:
C0009081
Congenital Abnormality
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).
Postaxial polydactyly
MedGen UID:
67394
Concept ID:
C0220697
Congenital Abnormality
Polydactyly refers to the occurrence of supernumerary digits and is the most frequent of congenital hand and foot deformities. Based on the location of the extra digits, polydactyly can be classified into preaxial, involving the thumb or great toe; postaxial, affecting the fifth digit; and central, involving the 3 central digits. Postaxial polydactyly (PAP) is further subclassified into 2 types: in type A, a well-formed extra digit articulates with the fifth or a sixth metacarpal, whereas in type B, a rudimentary, poorly developed extra digit is present (summary by Umm-e-Kalsoom et al., 2012). Genetic Heterogeneity of Postaxial Polydactyly Other forms of postaxial polydactyly type A include PAPA2 (602085) on chromosome 13q21; PAPA3 (607324) on chromosome 19p13; PAPA4 (608562) on chromosome 7q22; PAPA5 (263450) on chromosome 13q13; PAPA6 (615226), caused by mutation in the ZNF141 gene (194648) on chromosome 4p16; PAPA7 (617642), caused by mutation in the IQCE gene (617631) on chromosome 7p22; PAPA8 (618123), caused by mutation in the GLI1 gene (165220) on chromosome 12q13; PAPA9 (618219), caused by mutation in the FAM98A gene (617273) on chromosome 8q22; and PAPA10 (618498), caused by mutation in the KIAA0825 gene (617266) on chromosome 5q15.
Trident pelvis
MedGen UID:
1795576
Concept ID:
C5563366
Congenital Abnormality
Spurs at the medial and lateral acetabular margin and in the center of the acetabulum gives rise to shape resembling a three-pronged spear known as trident.
Ventricular septal defect
MedGen UID:
42366
Concept ID:
C0018818
Congenital Abnormality
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Fetal growth restriction
MedGen UID:
4693
Concept ID:
C0015934
Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Intrahepatic biliary atresia
MedGen UID:
343308
Concept ID:
C1855284
Disease or Syndrome
Atresia in the intrahepatic bile duct.
Occipital encephalocele
MedGen UID:
4935
Concept ID:
C0014067
Congenital Abnormality
A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp.
Arrhinencephaly
MedGen UID:
36258
Concept ID:
C0078982
Congenital Abnormality
A defect of development of the brain characterized by congenital absence of the part of the brain that includes the olfactory bulbs, tracts, and other structures associated with the sense of smell.
Corpus callosum, agenesis of
MedGen UID:
104498
Concept ID:
C0175754
Congenital Abnormality
The corpus callosum is the largest fiber tract in the central nervous system and the major interhemispheric fiber bundle in the brain. Formation of the corpus callosum begins as early as 6 weeks' gestation, with the first fibers crossing the midline at 11 to 12 weeks' gestation, and completion of the basic shape by age 18 to 20 weeks (Schell-Apacik et al., 2008). Agenesis of the corpus callosum (ACC) is one of the most frequent malformations in brain with a reported incidence ranging between 0.5 and 70 in 10,000 births. ACC is a clinically and genetically heterogeneous condition, which can be observed either as an isolated condition or as a manifestation in the context of a congenital syndrome (see MOLECULAR GENETICS and Dobyns, 1996). Also see mirror movements-1 and/or agenesis of the corpus callosum (MRMV1; 157600). Schell-Apacik et al. (2008) noted that there is confusion in the literature regarding radiologic terminology concerning partial absence of the corpus callosum, where various designations have been used, including hypogenesis, hypoplasia, partial agenesis, or dysgenesis.
Molar tooth sign on MRI
MedGen UID:
400670
Concept ID:
C1865060
Finding
An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth.
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.
Agenesis of cerebellar vermis
MedGen UID:
1768774
Concept ID:
C5437781
Congenital Abnormality
Congenital absence of the vermis of cerebellum.
Retrognathia
MedGen UID:
19766
Concept ID:
C0035353
Congenital Abnormality
An abnormality in which the mandible is mislocalised posteriorly.
Kyphoscoliosis
MedGen UID:
154361
Concept ID:
C0575158
Anatomical Abnormality
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
Camptodactyly
MedGen UID:
195780
Concept ID:
C0685409
Congenital Abnormality
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.
Joint hypermobility
MedGen UID:
336793
Concept ID:
C1844820
Finding
The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.
Bowing of the long bones
MedGen UID:
340849
Concept ID:
C1855340
Congenital Abnormality
A bending or abnormal curvature of a long bone.
Lobulated tongue
MedGen UID:
140914
Concept ID:
C0431564
Congenital Abnormality
Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour.
Cleft palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Abnormality of eye movement
MedGen UID:
99227
Concept ID:
C0497202
Finding
An abnormality in voluntary or involuntary eye movements or their control.

Professional guidelines

PubMed

Tang X, Liu C, Liu X, Chen J, Fan X, Liu J, Ma D, Cao G, Chen Z, Xu D, Zhu Y, Jiang X, Cheng L, Wu Y, Hou L, Li Y, Shao X, Zheng S, Zhang A, Zheng B, Jian S, Rong Z, Su Q, Gao X, Rao J, Shen Q, Xu H; Chinese Children Genetic Kidney Disease Database (CCGKDD); “Internet Plus” Nephrology Alliance of the National Center for Children’s Care
J Med Genet 2022 Feb;59(2):147-154. Epub 2020 Dec 15 doi: 10.1136/jmedgenet-2020-107184. PMID: 33323469
Barroso-Gil M, Olinger E, Ramsbottom SA, Molinari E, Miles CG, Sayer JA
Mol Genet Genomic Med 2021 Dec;9(12):e1603. Epub 2021 Jan 24 doi: 10.1002/mgg3.1603. PMID: 33486889Free PMC Article
Saleem SN, Zaki MS, Soliman NA, Momtaz M
Neuropediatrics 2011 Feb;42(1):35-8. Epub 2011 Apr 15 doi: 10.1055/s-0031-1275739. PMID: 21500139

Recent clinical studies

Etiology

Chang MY, Grosrenaud P, Borchert MS
J Pediatr Ophthalmol Strabismus 2022 Sep-Oct;59(5):326-331. Epub 2022 Feb 22 doi: 10.3928/01913913-20220106-01. PMID: 35192381Free PMC Article
Simonini C, Floeck A, Strizek B, Mueller A, Gembruch U, Geipel A
Arch Gynecol Obstet 2022 Jul;306(1):71-83. Epub 2021 Oct 1 doi: 10.1007/s00404-021-06265-7. PMID: 34596737Free PMC Article
Tang X, Liu C, Liu X, Chen J, Fan X, Liu J, Ma D, Cao G, Chen Z, Xu D, Zhu Y, Jiang X, Cheng L, Wu Y, Hou L, Li Y, Shao X, Zheng S, Zhang A, Zheng B, Jian S, Rong Z, Su Q, Gao X, Rao J, Shen Q, Xu H; Chinese Children Genetic Kidney Disease Database (CCGKDD); “Internet Plus” Nephrology Alliance of the National Center for Children’s Care
J Med Genet 2022 Feb;59(2):147-154. Epub 2020 Dec 15 doi: 10.1136/jmedgenet-2020-107184. PMID: 33323469
Nuovo S, Bacigalupo I, Ginevrino M, Battini R, Bertini E, Borgatti R, Casella A, Micalizzi A, Nardella M, Romaniello R, Serpieri V, Zanni G, Valente EM, Vanacore N; JS Italian Study Group
Neurology 2020 Feb 25;94(8):e797-e801. Epub 2020 Jan 22 doi: 10.1212/WNL.0000000000008996. PMID: 31969461Free PMC Article
Büscher R, Büscher AK, Cetiner M, Treckmann JW, Paul A, Vester U, Hoyer PF
Pediatr Transplant 2015 Dec;19(8):858-65. Epub 2015 Sep 5 doi: 10.1111/petr.12595. PMID: 26341656

Diagnosis

Chang MY, Grosrenaud P, Borchert MS
J Pediatr Ophthalmol Strabismus 2022 Sep-Oct;59(5):326-331. Epub 2022 Feb 22 doi: 10.3928/01913913-20220106-01. PMID: 35192381Free PMC Article
Simonini C, Floeck A, Strizek B, Mueller A, Gembruch U, Geipel A
Arch Gynecol Obstet 2022 Jul;306(1):71-83. Epub 2021 Oct 1 doi: 10.1007/s00404-021-06265-7. PMID: 34596737Free PMC Article
Barroso-Gil M, Olinger E, Ramsbottom SA, Molinari E, Miles CG, Sayer JA
Mol Genet Genomic Med 2021 Dec;9(12):e1603. Epub 2021 Jan 24 doi: 10.1002/mgg3.1603. PMID: 33486889Free PMC Article
Dahl S, Pettersson M, Eisfeldt J, Schröder AK, Wickström R, Teär Fahnehjelm K, Anderlid BM, Lindstrand A
PLoS One 2020;15(2):e0228622. Epub 2020 Feb 10 doi: 10.1371/journal.pone.0228622. PMID: 32040484Free PMC Article
Büscher R, Büscher AK, Cetiner M, Treckmann JW, Paul A, Vester U, Hoyer PF
Pediatr Transplant 2015 Dec;19(8):858-65. Epub 2015 Sep 5 doi: 10.1111/petr.12595. PMID: 26341656

Therapy

Barroso-Gil M, Olinger E, Ramsbottom SA, Molinari E, Miles CG, Sayer JA
Mol Genet Genomic Med 2021 Dec;9(12):e1603. Epub 2021 Jan 24 doi: 10.1002/mgg3.1603. PMID: 33486889Free PMC Article

Prognosis

Romaniello R, Gagliardi C, Desalvo P, Provenzi L, Battini R, Bertini E, Bonati MT, Briguglio M, D'Arrigo S, Dotti MT, Giordano L, Macaluso C, Moroni I, Nuovo S, Santucci M, Signorini S, Stanzial F, Valente EM, Borgatti R
Disabil Rehabil 2022 Sep;44(18):4966-4973. Epub 2021 May 19 doi: 10.1080/09638288.2021.1922516. PMID: 34010585
Society for Maternal-Fetal Medicine (SMFM), Monteagudo A
Am J Obstet Gynecol 2020 Dec;223(6):B38-B41. Epub 2020 Nov 7 doi: 10.1016/j.ajog.2020.08.184. PMID: 33168220
Büscher R, Büscher AK, Cetiner M, Treckmann JW, Paul A, Vester U, Hoyer PF
Pediatr Transplant 2015 Dec;19(8):858-65. Epub 2015 Sep 5 doi: 10.1111/petr.12595. PMID: 26341656
Tory K, Lacoste T, Burglen L, Morinière V, Boddaert N, Macher MA, Llanas B, Nivet H, Bensman A, Niaudet P, Antignac C, Salomon R, Saunier S
J Am Soc Nephrol 2007 May;18(5):1566-75. Epub 2007 Apr 4 doi: 10.1681/ASN.2006101164. PMID: 17409309
Hodgkins PR, Harris CM, Shawkat FS, Thompson DA, Chong K, Timms C, Russell-Eggitt I, Taylor DS, Kriss A
Dev Med Child Neurol 2004 Oct;46(10):694-9. doi: 10.1017/s0012162204001161. PMID: 15473174

Clinical prediction guides

Schröder S, Yigit G, Li Y, Altmüller J, Büttel HM, Fiedler B, Kretzschmar C, Nürnberg P, Seeger J, Serpieri V, Valente EM, Wollnik B, Boltshauser E, Brockmann K
Orphanet J Rare Dis 2023 May 2;18(1):101. doi: 10.1186/s13023-023-02706-5. PMID: 37131188Free PMC Article
Simonini C, Floeck A, Strizek B, Mueller A, Gembruch U, Geipel A
Arch Gynecol Obstet 2022 Jul;306(1):71-83. Epub 2021 Oct 1 doi: 10.1007/s00404-021-06265-7. PMID: 34596737Free PMC Article
Tang X, Liu C, Liu X, Chen J, Fan X, Liu J, Ma D, Cao G, Chen Z, Xu D, Zhu Y, Jiang X, Cheng L, Wu Y, Hou L, Li Y, Shao X, Zheng S, Zhang A, Zheng B, Jian S, Rong Z, Su Q, Gao X, Rao J, Shen Q, Xu H; Chinese Children Genetic Kidney Disease Database (CCGKDD); “Internet Plus” Nephrology Alliance of the National Center for Children’s Care
J Med Genet 2022 Feb;59(2):147-154. Epub 2020 Dec 15 doi: 10.1136/jmedgenet-2020-107184. PMID: 33323469
Yates JF, Troester MM, Ingram DG
Curr Neurol Neurosci Rep 2018 May 23;18(7):38. doi: 10.1007/s11910-018-0850-6. PMID: 29789951
Tory K, Lacoste T, Burglen L, Morinière V, Boddaert N, Macher MA, Llanas B, Nivet H, Bensman A, Niaudet P, Antignac C, Salomon R, Saunier S
J Am Soc Nephrol 2007 May;18(5):1566-75. Epub 2007 Apr 4 doi: 10.1681/ASN.2006101164. PMID: 17409309

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