U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Joubert syndrome 38(JBTS38)

MedGen UID:
1794168
Concept ID:
C5561958
Disease or Syndrome
Synonyms: JBTS38; JOUBERT SYNDROME 38
 
Gene (location): KIAA0753 (17p13.1)
 
Monarch Initiative: MONDO:0030353
OMIM®: 619476

Definition

Joubert syndrome-38 (JBTS38) is characterized by hypotonia, global developmental delay, oculomotor apraxia, and breathing abnormalities, with a 'molar tooth sign' on brain MRI. Patients also exhibit pituitary abnormalities with growth hormone deficiency (Stephen et al., 2017). For a general phenotypic description and discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (213300). [from OMIM]

Clinical features

From HPO
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Posteriorly rotated ears
MedGen UID:
96566
Concept ID:
C0431478
Congenital Abnormality
A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
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.
Inferior cerebellar vermis hypoplasia
MedGen UID:
343328
Concept ID:
C1855350
Congenital Abnormality
Underdevelopment of the inferior portion 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.
Ectopic posterior pituitary
MedGen UID:
481201
Concept ID:
C3279571
Finding
An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the neurohypophysis. The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis.
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.
Small pituitary gland
MedGen UID:
868479
Concept ID:
C4022873
Anatomical Abnormality
An abnormally decreased size of the pituitary gland.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Epicanthus
MedGen UID:
151862
Concept ID:
C0678230
Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).
Prominent forehead
MedGen UID:
373291
Concept ID:
C1837260
Finding
Forward prominence of the entire forehead, due to protrusion of the frontal bone.
Downturned corners of mouth
MedGen UID:
356471
Concept ID:
C1866195
Anatomical Abnormality
A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure.
Decreased serum insulin-like growth factor 1
MedGen UID:
892792
Concept ID:
C4072897
Finding
A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation.
Decreased response to growth hormone stimulation test
MedGen UID:
1784655
Concept ID:
C5539399
Finding
Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests.
Esotropia
MedGen UID:
4550
Concept ID:
C0014877
Disease or Syndrome
A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.
Hypermetropia
MedGen UID:
43780
Concept ID:
C0020490
Disease or Syndrome
An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.
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.

Recent clinical studies

Etiology

Shen Y, Lu C, Cheng T, Cao Z, Chen C, Ma X, Gao H, Luo M
BMC Med Genomics 2023 Jan 12;16(1):4. doi: 10.1186/s12920-023-01438-6. PMID: 36635699Free PMC Article
Ruberto G, Parisi V, Bertone C, Signorini S, Antonini M, Valente EM, Manzoni F, Serpieri V, Fausto R, Quaranta L
Adv Ther 2021 Jan;38(1):278-289. Epub 2020 Oct 24 doi: 10.1007/s12325-020-01534-4. PMID: 33098555Free PMC Article
Altieri F, D'Anzi A, Martello F, Tardivo S, Spasari I, Ferrari D, Bernardini L, Lamorte G, Mazzoccoli G, Valente EM, Vescovi AL, Rosati J
Stem Cell Res 2019 Jul;38:101480. Epub 2019 Jun 5 doi: 10.1016/j.scr.2019.101480. PMID: 31202121Free PMC Article
Lee JH, Gleeson JG
Neurobiol Dis 2010 May;38(2):167-72. Epub 2010 Jan 22 doi: 10.1016/j.nbd.2009.12.022. PMID: 20097287Free PMC Article
Khan AO, Oystreck DT, Seidahmed MZ, AlDrees A, Elmalik SA, Alorainy IA, Salih MA
Ophthalmology 2008 Dec;115(12):2286-9. doi: 10.1016/j.ophtha.2008.08.005. PMID: 19041481

Diagnosis

Forsyth R, Parisi MA, Altintas B, Malicdan MC, Vilboux T, Knoll J, Brooks BP, Zein WM, Gahl WA, Toro C, Gunay-Aygun M
Am J Med Genet C Semin Med Genet 2022 Mar;190(1):121-130. Epub 2022 Mar 21 doi: 10.1002/ajmg.c.31966. PMID: 35312150Free PMC Article
Ruberto G, Parisi V, Bertone C, Signorini S, Antonini M, Valente EM, Manzoni F, Serpieri V, Fausto R, Quaranta L
Adv Ther 2021 Jan;38(1):278-289. Epub 2020 Oct 24 doi: 10.1007/s12325-020-01534-4. PMID: 33098555Free PMC Article
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
Wang J, Deretic D
Prog Retin Eye Res 2014 Jan;38:1-19. Epub 2013 Oct 14 doi: 10.1016/j.preteyeres.2013.08.004. PMID: 24135424Free PMC Article
Khan AO, Oystreck DT, Seidahmed MZ, AlDrees A, Elmalik SA, Alorainy IA, Salih MA
Ophthalmology 2008 Dec;115(12):2286-9. doi: 10.1016/j.ophtha.2008.08.005. PMID: 19041481

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
Phelps IG, Dempsey JC, Grout ME, Isabella CR, Tully HM, Doherty D, Bachmann-Gagescu R
Genet Med 2018 Feb;20(2):223-233. Epub 2017 Aug 3 doi: 10.1038/gim.2017.94. PMID: 28771248Free PMC Article
Ergür AT, Taş F, Yildiz E, Kiliç F, Sezgin I
Turk J Pediatr 2004 Oct-Dec;46(4):388-92. PMID: 15641280
Solomon R, Jana AK, Singh S, Biswas A
Indian Pediatr 2001 Sep;38(9):1045-9. PMID: 11568384
Gilbert-Barness E, Debich-Spicer D, Cohen MM Jr, Opitz JM
Am J Med Genet 2001 Jul 15;101(4):382-7. PMID: 11471162

Clinical prediction guides

Siegert S, Grisold A, Pal-Handl K, Lilja S, Kepa S, Silvaieh S, Laccone F, Wiest G, Pogledic I, Schmook MT, Boltshauser E, Schmidt WM, Krenn M
Pediatr Neurol 2024 Nov;160:38-44. Epub 2024 Jul 30 doi: 10.1016/j.pediatrneurol.2024.07.015. PMID: 39181021
Ruberto G, Parisi V, Bertone C, Signorini S, Antonini M, Valente EM, Manzoni F, Serpieri V, Fausto R, Quaranta L
Adv Ther 2021 Jan;38(1):278-289. Epub 2020 Oct 24 doi: 10.1007/s12325-020-01534-4. PMID: 33098555Free PMC Article
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
Phelps IG, Dempsey JC, Grout ME, Isabella CR, Tully HM, Doherty D, Bachmann-Gagescu R
Genet Med 2018 Feb;20(2):223-233. Epub 2017 Aug 3 doi: 10.1038/gim.2017.94. PMID: 28771248Free PMC Article
Khan AO, Oystreck DT, Seidahmed MZ, AlDrees A, Elmalik SA, Alorainy IA, Salih MA
Ophthalmology 2008 Dec;115(12):2286-9. doi: 10.1016/j.ophtha.2008.08.005. PMID: 19041481

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...