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Joubert syndrome 39(JBTS39)

MedGen UID:
1794210
Concept ID:
C5562000
Disease or Syndrome
Synonym: JBTS39
 
Gene (location): TMEM218 (11q24.2)
 
Monarch Initiative: MONDO:0030454
OMIM®: 619562

Definition

Joubert syndrome-39 (JBTS39) is an autosomal recessive neurodevelopmental disorder with variable manifestations. Most affected individuals have developmental delay with poor speech and retinal dystrophy with abnormal eye movements. Brain imaging shows the pathognomonic 'molar tooth sign,' which reflects abnormal cerebellar formation (Van De Weghe et al., 2021). For a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (213300). [from OMIM]

Clinical features

From HPO
Polycystic kidney disease
MedGen UID:
9639
Concept ID:
C0022680
Disease or Syndrome
The presence of multiple cysts in both kidneys.
Postaxial polydactyly
MedGen UID:
67394
Concept ID:
C0220697
Disease or Syndrome
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.
Hypoplastic left heart syndrome
MedGen UID:
57746
Concept ID:
C0152101
Disease or Syndrome
People with CCHD have one or more specific heart defects. The heart defects classified as CCHD include coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus.\n\nCritical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.\n\nAlthough babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms soon become apparent. These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). If untreated, CCHD can lead to shock, coma, and death. However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment.\n\nSome people with treated CCHD have few related health problems later in life. However, long-term effects of CCHD can include delayed development and reduced stamina during exercise. Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death.\n\nEach of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural abnormalities.
Overweight
MedGen UID:
105424
Concept ID:
C0497406
Finding
Increased body weight with a body mass index of 25-29.9 kg per square meter.
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.
Pain insensitivity
MedGen UID:
488855
Concept ID:
C0344307
Finding
Inability to perceive painful stimuli.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Cerebellar vermis hypoplasia
MedGen UID:
333548
Concept ID:
C1840379
Finding
Underdevelopment of the vermis of cerebellum.
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.
Oculomotor apraxia
MedGen UID:
483686
Concept ID:
C3489733
Disease or Syndrome
Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancelation of the vestibulo-ocular reflex.
Joint contracture of the 5th finger
MedGen UID:
356345
Concept ID:
C1865702
Anatomical Abnormality
Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected.
Hypopnea
MedGen UID:
536410
Concept ID:
C0235546
Finding
Hypopnea is referring to breathing that is abnormally shallow.
Retinal dystrophy
MedGen UID:
208903
Concept ID:
C0854723
Finding
Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.

Professional guidelines

PubMed

Chapman T, Mahalingam S, Ishak GE, Nixon JN, Siebert J, Dighe MK
Clin Imaging 2015 Mar-Apr;39(2):167-75. Epub 2014 Oct 22 doi: 10.1016/j.clinimag.2014.10.012. PMID: 25457569

Recent clinical studies

Etiology

Bozhinovski G, Terzikj M, Kubelka-Sabit K, Plaseska-Karanfilska D
Balkan Med J 2024 Mar 1;41(2):97-104. Epub 2024 Feb 14 doi: 10.4274/balkanmedj.galenos.2024.2023-10-72. PMID: 38351681Free PMC Article
Sangermano R, Galdikaité-Braziené E, Bujakowska KM
Adv Exp Med Biol 2023;1415:173-182. doi: 10.1007/978-3-031-27681-1_26. PMID: 37440031
Zhu T, Shen Y, Sun Z, Han X, Wei X, Li W, Lu C, Cheng T, Zou X, Li H, Cao Z, Gao H, Ma X, Luo M, Sui R
Am J Ophthalmol 2023 Apr;248:96-106. Epub 2022 Dec 7 doi: 10.1016/j.ajo.2022.11.023. PMID: 36493848
Surl D, Shin S, Lee ST, Choi JR, Lee J, Byeon SH, Han SH, Lim HT, Han J
Mol Vis 2020;26:26-35. Epub 2020 Feb 24 PMID: 32165824Free PMC Article
Salman MS, Ikeda KM
Can J Neurol Sci 2013 Mar;40(2):235-40. doi: 10.1017/s0317167100013792. PMID: 23419574

Diagnosis

Bozhinovski G, Terzikj M, Kubelka-Sabit K, Plaseska-Karanfilska D
Balkan Med J 2024 Mar 1;41(2):97-104. Epub 2024 Feb 14 doi: 10.4274/balkanmedj.galenos.2024.2023-10-72. PMID: 38351681Free PMC Article
Cruz AAV, Feltrini T, Chahud F, Messias K
Ophthalmic Plast Reconstr Surg 2023 May-Jun 01;39(3):e71-e72. Epub 2023 Mar 16 doi: 10.1097/IOP.0000000000002253. PMID: 36928037
Zhu T, Shen Y, Sun Z, Han X, Wei X, Li W, Lu C, Cheng T, Zou X, Li H, Cao Z, Gao H, Ma X, Luo M, Sui R
Am J Ophthalmol 2023 Apr;248:96-106. Epub 2022 Dec 7 doi: 10.1016/j.ajo.2022.11.023. PMID: 36493848
Surl D, Shin S, Lee ST, Choi JR, Lee J, Byeon SH, Han SH, Lim HT, Han J
Mol Vis 2020;26:26-35. Epub 2020 Feb 24 PMID: 32165824Free PMC Article
Chapman T, Mahalingam S, Ishak GE, Nixon JN, Siebert J, Dighe MK
Clin Imaging 2015 Mar-Apr;39(2):167-75. Epub 2014 Oct 22 doi: 10.1016/j.clinimag.2014.10.012. PMID: 25457569

Prognosis

Bozhinovski G, Terzikj M, Kubelka-Sabit K, Plaseska-Karanfilska D
Balkan Med J 2024 Mar 1;41(2):97-104. Epub 2024 Feb 14 doi: 10.4274/balkanmedj.galenos.2024.2023-10-72. PMID: 38351681Free PMC Article
Webb TR, Parfitt DA, Gardner JC, Martinez A, Bevilacqua D, Davidson AE, Zito I, Thiselton DL, Ressa JH, Apergi M, Schwarz N, Kanuga N, Michaelides M, Cheetham ME, Gorin MB, Hardcastle AJ
Hum Mol Genet 2012 Aug 15;21(16):3647-54. Epub 2012 May 22 doi: 10.1093/hmg/dds194. PMID: 22619378Free PMC Article
Hakami WS, Majeed-Saidan MA
Saudi Med J 2011 Nov;32(11):1137-42. PMID: 22057601

Clinical prediction guides

Webb TR, Parfitt DA, Gardner JC, Martinez A, Bevilacqua D, Davidson AE, Zito I, Thiselton DL, Ressa JH, Apergi M, Schwarz N, Kanuga N, Michaelides M, Cheetham ME, Gorin MB, Hardcastle AJ
Hum Mol Genet 2012 Aug 15;21(16):3647-54. Epub 2012 May 22 doi: 10.1093/hmg/dds194. PMID: 22619378Free PMC Article

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