Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Orofaciodigital syndrome 04

Baraitser-Burn syndrome is an autosomal recessive ciliopathy caused by mutations of the TCTN3 gene. It is characterized by skeletal, neuronal and visceral malformations.

Systematic

Orofaciodigital syndrome
Orofaciodigital syndrome 01
Orofaciodigital syndrome 04
TCTN3
Orofaciodigital syndrome 06
Orofaciodigital syndrome 16

References:

1.

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

[^]
2.

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

[^]
3.

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

[^]
4.

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

[^]
5.

None (1986) The orofaciodigital (OFD) syndromes.

[^]
6.

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

[^]
7.

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

[^]
8.

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

[^]
9.

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?

[^]
10.

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

[^]
11.

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

[^]
Update: Oct. 11, 2018