Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Orofaciodigitales Syndrom

Das Orofaciodigitales Syndrom gehört in die Gruppe der Ziliopathien, die durch Entwicklungsstörungen gekennzeichnet ist. Deshalb findet sich ein weites Spektrum an Malformationen, die neben dem Skelettsystem auch das Nervensystem und verschiedene innere Organe (Nieren, Pankreas und Ovarien) betreffen können.

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
Orofaciodigitales Syndrom 01
OFD1
Orofaciodigitales Syndrom 04
TCTN3
Orofaciodigitales Syndrom 06
C5ORF42
Orofaciodigitales Syndrom 16
TMEM107
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.

Wettke-Schäfer R et. al. (1983) X-linked dominant inherited diseases with lethality in hemizygous males.

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2.

Ferrante MI et. al. (2001) Identification of the gene for oral-facial-digital type I syndrome.

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3.

Rakkolainen A et. al. (2002) Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1.

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4.

Morisawa T et. al. (2004) Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts.

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5.

Thauvin-Robinet C et. al. (2006) Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study.

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6.

Ferrante MI et. al. (2009) Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene.

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7.

Zullo A et. al. (2010) Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathway.

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8.

Thomas S et. al. (2012) TCTN3 mutations cause Mohr-Majewski syndrome.

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9.

Nevin NC et. al. (1992) Orofaciodigital syndrome type IV: report of a patient.

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10.

Meinecke P et. al. (1990) Orofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies.

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11.

Nevin NC et. al. (1989) Orofaciodigital syndrome type IV: report of a patient.

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12.

None (1986) The orofaciodigital (OFD) syndromes.

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13.

Burn J et. al. (1984) Orofaciodigital syndrome with mesomelic limb shortening.

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14.

Baraitser M et. al. (1983) A female infant with features of Mohr and Majewski syndromes: variable expression, a genetic compound, or a distinct entity?

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15.

Cooper CP et. al. (1982) Lethal short-rib polydactyly syndrome of the Majewski type: a report of three cases.

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16.

Adès LC et. al. (1994) Polydactyly, campomelia, ambiguous genitalia, cystic dysplastic kidneys, and cerebral malformation in a fetus of consanguineous parents: a new multiple malformation syndrome, or a severe form of oral-facial-digital syndrome type IV?

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17.

Digilio MC et. al. (1995) Joint dislocation and cerebral anomalies are consistently associated with oral-facial-digital syndrome type IV.

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18.

Toriello HV et. al. (1997) Six patients with oral-facial-digital syndrome IV: the case for heterogeneity.

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19.

Solomon LM et. al. (1970) Pilosebaceous dysplasia in the oral-facial-digital syndrome.

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20.

Reinwein H et. al. (1966) [Studies on a family with orofaciodigital syndrome].

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21.

Annerén G et. al. (1984) Oro-facio-digital syndromes I and II: radiological methods for diagnosis and the clinical variations.

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22.

Cohen MM et. al. (1981) Prenatal monitoring and genetic counseling in a 47, XXX female with the oro-facial digital syndrome-type 1.

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23.

Feather SA et. al. (1997) The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3.

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24.

Feather SA et. al. (1997) Oral-facial-digital syndrome type 1 is another dominant polycystic kidney disease: clinical, radiological and histopathological features of a new kindred.

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25.

Morán-Barroso V et. al. (1998) Oral-facial-digital (OFD) syndrome with associated features: a new syndrome or genetic heterogeneity and variability?

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26.

Gedeon AK et. al. (1999) Gene localization for oral-facial-digital syndrome type 1 (OFD1:MIM 311200) proximal to DXS85.

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27.

Shotelersuk V et. al. (1999) Discordance of oral-facial-digital syndrome type 1 in monozygotic twin girls.

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28.

Degner D et. al. (1999) [Orofaciodigital syndrome--a new variant? Psychiatric, neurologic and neuroradiological findings].

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29.

GORLIN RJ et. al. (1961) Hypertrophied frenuli, oligophrenia, famflial trembling and anomalies of the hand. Report of four casesin one family and a forme fruste in another.

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30.

FUHRMANN W et. al. (1960) [On the genetics of the combination of harelip-cleft palate and syndactylia].

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31.

GORLIN RJ et. al. (1962) Orodigitofacial dysostosis--a new syndrome. A study of 22 cases.

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32.

KUSHNICK T et. al. (1963) OROFACIODIGITAL SYNDROME IN A MALE: CASE REPORT.

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33.

DOEGE TC et. al. (1964) STUDIES OF A FAMILY WITH THE ORAL-FACIAL-DIGITAL SYNDROME.

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34.

RUESS AL et. al. (1962) The oral-facial-digital syndrome: a multiple congenital condition of females with associated chromosomal abnormalities.

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35.

Gurrieri F et. al. (2007) Oral-facial-digital syndromes: review and diagnostic guidelines.

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36.

None (2009) Are the oral-facial-digital syndromes ciliopathies?

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37.

Chetty-John S et. al. (2010) Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I).

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38.

Bruel AL et. al. (2017) Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.

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Update: 11. Oktober 2018

 

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