Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Orofaciodigitales Syndrom 6

Das Varadi-Syndrom ist eine autosomal rezessive Erkrankung, die durch Mutationen im C5ORF42-Gen hervorgerufen wird. Die Erkrankung ist durch Abnormalitäten des Kleinhirns und der Metacarpalen charakterisiert.

Gliederung

Angeborene Skelettfelbildungen
Al-Gazali-Bakalinova-Syndrom
Brachydaktylie
Branchio-okulo-faziales Syndrom
Ehlers-Danlos-Syndrom bei Tenascin-X-Mangel
Hydrolethalus 2
Kongenitale Kontraktur-Arachnodaktylie
Lakrimo-aurikulo-dento-digitales Syndrom
Lippen-Kiefer-Gaumenspalte 11
Multiple Synostosen
Orofaciodigitales Syndrom 6
C5ORF42
Parodontales Ehlers-Danlos-Syndrom
Proximaler Symphalangismus
Renale tubuläre Azidose mit Arthrogrypose
Simpson-Golabi-Behmel-Syndrom
Stapesankylose mit breiten Daumen und Zehen
Syndaktylie Typ 5
Syndrom der multiplen Synostosen 3
Synpolydaktylie Typ 1
Tarsal-Karpal-Fusions-Syndrom
Tatton-Brown-Rahman-Syndrom
Townes-Brocks-Syndrome
Trigonocephalie 2
Van Maldergem-Syndrom 2

Referenzen:

1.

Valente EM et. al. (2010) Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.

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2.

Darmency-Stamboul V et. al. (2013) Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome.

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3.

Lopez E et. al. (2014) C5orf42 is the major gene responsible for OFD syndrome type VI.

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4.

Gustavson KH et. al. (1971) Syndrome characterized by lingual malformation, polydactyly, tachypnea, and psychomotor retardation (Mohr syndrome).

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5.

Haumont D et. al. (1983) The Mohr syndrome: are there two variants?

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6.

Muenke M et. al. (1991) On lumping and splitting: a fetus with clinical findings of the oral-facial-digital syndrome type VI, the hydrolethalus syndrome, and the Pallister-Hall syndrome.

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7.

Hingorani SR et. al. (1991) Twin fetuses with abnormalities that overlap with three midline malformation complexes.

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8.

Münke M et. al. (1990) Oral-facial-digital syndrome type VI (Váradi syndrome): further clinical delineation.

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9.

Silengo MC et. al. (1987) Oro-facial-digital syndrome II. Transitional type between the Mohr and the Majewski syndromes: report of two new cases.

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10.

Gencík A et. al. (1983) Mohr syndrome in two siblings.

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11.

Mattei JF et. al. (1983) Syndrome of polydactyly, cleft lip, lingual hamartomas, renal hypoplasia, hearing loss, and psychomotor retardation: variant of the Mohr syndrome or a new syndrome?

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12.

Egger J et. al. (1982) Joubert-Boltshauser syndrome with polydactyly in siblings.

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13.

Váradi V et. al. (1980) Syndrome of polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation in endogamic gypsies.

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14.

Shashi V et. al. (1995) Absent pituitary gland in two brothers with an oral-facial-digital syndrome resembling OFDS II and VI: a new type of OFDS?

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15.

Stephan MJ et. al. (1994) Hypothalamic hamartoma in oral-facial-digital syndrome type VI (Váradi syndrome).

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16.

Cleper R et. al. (1993) Váradi syndrome (OFD VI) or Opitz trigonocephaly syndrome: overlapping manifestations in two cousins.

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17.

None (1993) Oral-facial-digital syndromes, 1992.

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18.

Doss BJ et. al. (1998) Neuropathologic findings in a case of OFDS type VI (Váradi syndrome).

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19.

Panigrahi I et. al. (2013) Overlapping phenotypes in OFD type II and OFD type VI: report of two cases.

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20.

Lambacher NJ et. al. (2016) TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.

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Update: 23. März 2018