Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Orofaciodigital syndrome

Orofaciodigital syndrome is a ciliopathy which like all ciliopathies is characterized by developmental disturbances. These may lead to malformations not only of the skeletal system but also the nervous system and several visceral organs (kidneys, pancreas, and ovaries).

Systematic

Inborn skeletal malformations
Al-Gazali-Bakalinova syndrome
Brachydactyly
Branchio-oculo-facial syndrome
Congenital contractural arachnodactyly
Ehlers-Danlos syndrome due to tenascin-X deficiency
Hydrolethalus 2
Lacrimoauriculodentodigital syndrome
Multiple synostoses syndrome
Multiple synostoses syndrome 3
Orofacial cleft 11
Orofaciodigital syndrome
Orofaciodigital syndrome 01
OFD1
Orofaciodigital syndrome 04
TCTN3
Orofaciodigital syndrome 06
CPLANE1
Orofaciodigital syndrome 16
TMEM107
Orofaciodigital syndrome 9
Periodontal Ehlers-Danlos syndrome
Proximal symphalangism
Renal tubular acidosis with arthrogryposis
Simpson-Golabi-Behmel syndrome
Stapes ankylosis with broad thumbs and toes
Syndactyly type 5
Synpolydactyly type 1
Tarsal-carpal coalition syndrome
Tatton-Brown-Rahman syndrome
Townes-Brocks syndrome
Trigonocephaly 2
Van Maldergem syndrome 2

References:

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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39.

Orphanet article

Orphanet ID 140997 [^]
40.

Wikipedia article

Wikipedia EN (Orofaciodigital_syndrome_1) [^]
Update: April 29, 2019