Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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
Loeys-Dietz 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.

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

external link
2.

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

external link
3.

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

external link
4.

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.

external link
5.

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.

external link
6.

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

external link
7.

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

external link
8.

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

external link
9.

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

external link
10.

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.

external link
11.

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

external link
12.

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

external link
13.

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

external link
14.

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

external link
15.

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

external link
16.

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

external link
17.

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

external link
18.

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).

external link
19.

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

external link
20.

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

external link
21.

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

external link
22.

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

external link
23.

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

external link
24.

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.

external link
25.

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.

external link
26.

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

external link
27.

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

external link
28.

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

external link
29.

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

external link
30.

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

external link
31.

None (1986) The orofaciodigital (OFD) syndromes.

external link
32.

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

external link
33.

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

external link
34.

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

external link
35.

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?

external link
36.

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

external link
37.

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

external link
38.

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

external link
39.

Orphanet article

Orphanet ID 140997 external link
40.

Wikipedia article

Wikipedia EN (Orofaciodigital_syndrome_1) external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits