Table 2.

Joubert Syndrome: Clinical Subtypes

Name of Clinical SubtypeMandatory Features in Addition to Primary Criteria 1Strongly Associated Features 2Other NamesGenes
(bold = major gene)
Classic or pure Joubert syndromeJS; JS type AMany genes
Joubert syndrome w/retinal disease (JS-Ret)Retinal dystrophy (including LCA)JS type B AHI1
CEP290
CEP41
INPP5E
MKS1
TMEM107
TMEM138
TMEM216
Joubert syndrome w/renal disease (JS-Ren)NPHP (includes cystic kidney disease) AHI1
CC2D2A
CEP290
NPHP1
OFD1
RPGRIP1L
TMEM138
TMEM216
TMEM237
ZNF423
Joubert syndrome w/oculorenal disease (JS-OR)Retinal dystrophy (incl LCA); NPHPCHF (occasional)JS type B; CORS; Senior-Løken syndrome; Dekaban-Arima syndrome AHI1
CC2D2A
CEP290
NPHP1
POC1B
RPGRIP1L
TMEM216
TMEM231
TMEM237
Joubert syndrome w/hepatic disease (JS-H)CHFColobomas; NPHPCOACH syndrome; Gentile syndrome CC2D2A
CEP290
INPP5E
RPGRIP1L
TMEM67
Joubert syndrome w/oral-facial-digital features (JS-OFD)Tongue hamartomas; oral frenulae; polydactyly 3Cleft lip/palateVaradi-Papp syndrome; OFD VI; OFD IV; Mohr-Majewski syndrome B9D2
C2CD3
CPLANE1
CEP120
KIF7
OFD1
TCTN2
TCTN3
TMEM107
TMEM216
Joubert syndrome w/acro-callosal features (JS-AC)Agenesis of corpus callosum; polydacyly 3HydrocephalusAcrocallosal syndrome KIF7
Joubert syndrome w/Jeune asphyxiating thoracic dystrophy features (JS-JATD)Skeletal dysplasia (short ribs, small thorax, short limbs, renal cystic disease)Polydactyly 3; cone-shaped epiphyses; CHFJeune asphyxiating thoracic dystrophy; Mainzer-Saldino syndrome CEP120
CSPP1
IFT172
KIAA0586

Adapted from Brancati et al [2010]. This classification scheme should not be interpreted as definitive, given the extreme clinical heterogeneity of the manifestations and the variable age of onset of many of these features.

AC = acro-callosal; CHF = congenital hepatic fibrosis ; COACH = cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis; CORS = cerebello-oculo-renal syndromes; H = hepatic; JATD = Jeune asphyxiating thoracic dystrophy; LCA = Leber congenital amaurosis; NPHP = nephronophthisis; OFD = oral-facial-digital syndrome; OR = oculorenal; Ren = renal; Ret = retinal

1.

Primary criteria = molar tooth sign (MTS), hypotonia, developmental delay (DD)

2.

Other features including encephalocele, postaxial polydactyly, other structural brain malformations (including polymicrogyria), congenital heart defects, Hirschsprung disease, and situs defects can be seen in these subtypes but are not major features.

3.

Polydactyly is often postaxial, especially of hands, and preaxial, especially of feet. Distinctive for OFD VI syndrome: mesaxial or central polydactyly with a Y-shaped metacarpal.

From: Joubert Syndrome

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