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Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI

Authors :
Poretti, Andrea
Vitiello, Giuseppina
Hennekam, Raoul C M
Arrigoni, Filippo
Bertini, Enrico
Borgatti, Renato
Brancati, Francesco
D'Arrigo, Stefano
Faravelli, Francesca
Giordano, Lucio
Huisman, Thierry A G M
Iannicelli, Miriam
Kluger, Gerhard
Kyllerman, Marten
Landgren, Magnus
Lees, Melissa M
Pinelli, Lorenzo
Romaniello, Romina
Scheer, Ianina
Schwarz, Christoph E
Spiegel, Ronen
Tibussek, Daniel
Valente, Enza Maria
Boltshauser, Eugen
Poretti, Andrea
Vitiello, Giuseppina
Hennekam, Raoul C M
Arrigoni, Filippo
Bertini, Enrico
Borgatti, Renato
Brancati, Francesco
D'Arrigo, Stefano
Faravelli, Francesca
Giordano, Lucio
Huisman, Thierry A G M
Iannicelli, Miriam
Kluger, Gerhard
Kyllerman, Marten
Landgren, Magnus
Lees, Melissa M
Pinelli, Lorenzo
Romaniello, Romina
Scheer, Ianina
Schwarz, Christoph E
Spiegel, Ronen
Tibussek, Daniel
Valente, Enza Maria
Boltshauser, Eugen
Source :
Poretti, Andrea; Vitiello, Giuseppina; Hennekam, Raoul C M; Arrigoni, Filippo; Bertini, Enrico; Borgatti, Renato; Brancati, Francesco; D'Arrigo, Stefano; Faravelli, Francesca; Giordano, Lucio; Huisman, Thierry A G M; Iannicelli, Miriam; Kluger, Gerhard; Kyllerman, Marten; Landgren, Magnus; Lees, Melissa M; Pinelli, Lorenzo; Romaniello, Romina; Scheer, Ianina; Schwarz, Christoph E; Spiegel, Ronen; Tibussek, Daniel; Valente, Enza Maria; Boltshauser, Eugen (2012). Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. Orphanet Journal of Rare Diseases, 7:4.
Publication Year :
2012

Abstract

Oral-Facial-Digital Syndrome type VI (OFD VI) represents a rare phenotypic subtype of Joubert syndrome and related disorders (JSRD). In the original report polydactyly, oral findings, intellectual disability, and absence of the cerebellar vermis at post-mortem characterized the syndrome. Subsequently, the molar tooth sign (MTS) has been found in patients with OFD VI, prompting the inclusion of OFD VI in JSRD. We studied the clinical, neurodevelopmental, neuroimaging, and genetic findings in a cohort of 16 patients with OFD VI. We derived the following inclusion criteria from the literature: 1) MTS and one oral finding and polydactyly, or 2) MTS and more than one typical oral finding. The OFD VI neuroimaging pattern was found to be more severe than in other JSRD subgroups and includes severe hypoplasia of the cerebellar vermis, hypoplastic and dysplastic cerebellar hemispheres, marked enlargement of the posterior fossa, increased retrocerebellar collection of cerebrospinal fluid, abnormal brainstem, and frequently supratentorial abnormalities that occasionally include characteristic hypothalamic hamartomas. Additionally, two new JSRD neuroimaging findings (ascending superior cerebellar peduncles and fused thalami) have been identified. Tongue hamartomas, additional frenula, upper lip notch, and mesoaxial polydactyly are specific findings in OFD VI, while cleft lip/palate and other types of polydactyly of hands and feet are not specific. Involvement of other organs may include ocular findings, particularly colobomas. The majority of the patients have absent motor development and profound cognitive impairment. In OFD VI, normal cognitive functions are possible, but exceptional. Sequencing of known JSRD genes in most patients failed to detect pathogenetic mutations, therefore the genetic basis of OFD VI remains unknown. Compared with other JSRD subgroups, the neurological findings and impairment of motor development and cognitive functions in OFD VI are significantly wo

Details

Database :
OAIster
Journal :
Poretti, Andrea; Vitiello, Giuseppina; Hennekam, Raoul C M; Arrigoni, Filippo; Bertini, Enrico; Borgatti, Renato; Brancati, Francesco; D'Arrigo, Stefano; Faravelli, Francesca; Giordano, Lucio; Huisman, Thierry A G M; Iannicelli, Miriam; Kluger, Gerhard; Kyllerman, Marten; Landgren, Magnus; Lees, Melissa M; Pinelli, Lorenzo; Romaniello, Romina; Scheer, Ianina; Schwarz, Christoph E; Spiegel, Ronen; Tibussek, Daniel; Valente, Enza Maria; Boltshauser, Eugen (2012). Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. Orphanet Journal of Rare Diseases, 7:4.
Notes :
application/pdf, info:doi/10.5167/uzh-73303, English
Publication Type :
Electronic Resource
Accession number :
edsoai.ocn834041229
Document Type :
Electronic Resource