Orofaciodigital Syndromes (Orofaciodigital Syndrome)

Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.

Also Known As:

Networked: 16 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Polydactyly (Polydactylism)
2.	Short Rib-Polydactyly Syndrome (Syndrome, Majewski)
3.	Bardet-Biedl Syndrome (Syndrome, Bardet-Biedl)
4.	Malformations of Cortical Development
5.	Smith-Lemli-Opitz Syndrome

Experts

1.	Benmerah, Alexandre: 1 article (06/2014)
2.	Hildebrandt, Friedhelm: 1 article (06/2014)
3.	Belkacem, Lilya: 1 article (06/2014)
4.	Frigo, Amandine: 1 article (06/2014)
5.	Hurault de Ligny, Bruno: 1 article (06/2014)
6.	Braun, Daniela A: 1 article (06/2014)
7.	Alibeu, Olivier: 1 article (06/2014)
8.	Kim, Joon: 1 article (06/2014)
9.	Saunier, Sophie: 1 article (06/2014)
10.	Failler, Marion: 1 article (06/2014)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Orofaciodigital Syndromes:

1.	LY 165163 (PAPP)IBA 09/25/2005 - "[25 years' history of Váradi-Papp syndrome (orofaciodigital syndrome VI]." 10/01/1996 - "Prenatal diagnosis of orofaciodigital syndrome Varadi-Papp type." 03/01/2004 - "Here we present evidence that the MTS is seen together with polymicrogyria, Váradi-Papp syndrome (Orofaciodigital VI (OFD VI)), and a new syndrome with encephalocele and cortical renal cysts. "
2.	Jeune syndromeIBA 07/01/2009 - "The differentiation should be made between Jeune syndrome and other orofaciodigital syndromes." 05/03/1996 - "Radiologically this case shares manifestations with Jeune syndrome; the tongue lobulation and the preaxial polydactyly are similar to findings in Mohr syndrome, or short-rib polydactyly syndrome (SRPS), type Majewski. "
3.	RNA Helicases (RNA Helicase)IBA 09/05/2013 - "Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome."
4.	DNA ProbesIBA 10/01/1995 - "Given the severe spectrum of brain abnormalities displayed by our patient, and considering their similarity with the brain defects formerly described in other X-linked dominant conditions with male lethality localized to Xp22, the use of DNA probes from Xp22 is advised in identifying the gene(s) causing orofaciodigital syndrome type I."
5.	SilverIBA 10/01/2012 - "Monogenic syndromes were recognized in 12% of the CP cases (14/117): fragile X syndrome (2 cases), Meckel syndrome (2 cases), Orofaciodigital syndrome type I (OFD1) (1 case), Stickler syndrome (1 case), Larsen syndrome (1 case), Kniest syndrome (1 case), Cornelia de Lange syndrome (1 case), thanatophoric dysplasia (1 case), other unknown bone chondrodysplasia (1 case), Fryns syndrome (1 case), fetal akinesia sequence (1 case), and Silver-Russel syndrome (1 case). "
6.	Fryns syndromeIBA 10/01/2012 - "Monogenic syndromes were recognized in 12% of the CP cases (14/117): fragile X syndrome (2 cases), Meckel syndrome (2 cases), Orofaciodigital syndrome type I (OFD1) (1 case), Stickler syndrome (1 case), Larsen syndrome (1 case), Kniest syndrome (1 case), Cornelia de Lange syndrome (1 case), thanatophoric dysplasia (1 case), other unknown bone chondrodysplasia (1 case), Fryns syndrome (1 case), fetal akinesia sequence (1 case), and Silver-Russel syndrome (1 case). "
7.	Beemer type Short rib-polydactyly syndromeIBA 06/01/1991 - "Beemer-Langer syndrome with manifestations of an orofaciodigital syndrome."
8.	Brachymesomelia renal syndromeIBA 08/01/1993 - "The second category includes glomerulocystic kidneys as major components of heritable syndromes such as tuberous sclerosis, orofaciodigital syndrome, brachymesomelia-renal syndrome, trisomy 13, and the short rib-polydactyly syndromes. "
9.	type 1 Pena Shokeir syndromeIBA 10/01/2012 - "Monogenic syndromes were recognized in 12% of the CP cases (14/117): fragile X syndrome (2 cases), Meckel syndrome (2 cases), Orofaciodigital syndrome type I (OFD1) (1 case), Stickler syndrome (1 case), Larsen syndrome (1 case), Kniest syndrome (1 case), Cornelia de Lange syndrome (1 case), thanatophoric dysplasia (1 case), other unknown bone chondrodysplasia (1 case), Fryns syndrome (1 case), fetal akinesia sequence (1 case), and Silver-Russel syndrome (1 case). "
10.	Orofaciodigital syndrome 6IBA 09/01/2012 - "Orofaciodigital syndrome type-VI (Varadi-Papp syndrome) with several Y-shaped metacarpals." 09/01/2012 - "Orofaciodigital syndrome type-VI (Varadi-Papp Syndrome) is a rare autosomal recessive disorder characterized by variable orofacial anomalies, central polydactyly of the hands, and cerebellar dysgenesis (mainly hypoplasia or aplasia of vermis, rarely Dandy-Waker anomaly). "