Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI

Table 1 Key clinical and neuroimaging findings in 16 patients with OFD VI

Patients	Age at last follow-up (years)	Oral findings				Polydactyly				MTS	Hypothalamic hamartoma	Additional features
		Tongue hamartomas	Multiple frenula	Cleft lip/palate	Upper lip notch	Hand right	Hand left	Foot right	Foot left
1	28.4	+	-	-	-	Preaxial	Preaxial	Preaxial	Preaxial	+	-	Dysplastic kidney
2	0.2°	-	+	-	-	Postaxial	Postaxial	-	-	+	+	Morning glory anomaly
3	4.4	+	+	-	-	Postaxial	Postaxial	Preaxial	Preaxial	+	+	ASD, short stature (no endocrine dysfunctions)
4	5.5	-	-	+	-	Postaxial	Postaxial	Postaxial	Postaxial	+	-	Retinal colobomas
5	1.8°	+	-	+	-	-	-	-	-	+	-	-
6*	16.5	+	-	-	-	-	Postaxial	-	Postaxial	+	-	Choroidal colobomas, optic atrophy
7*	16.5	+	-	+	-	Postaxial	Postaxial	-	-	+	-	Choroidal colobomas, optic atrophy
8	0.6	+	-	-	-	Postaxial	Postaxial	Postaxial	Postaxial	+	-	-
9	7.1	+	-	-	-	Postaxial	Postaxial	-	-	+	-	High grade myopia
10	22.4	+	-	-	-	Postaxial	-	Preaxial	Preaxial	+	-	-
11	9.3	+	+	-	+	Mesaxial	Preaxial	Preaxial	Preaxial	+	+	Hirschsprung disease
12**	17.9	-	-	+	-	-	Postaxial	-	-	+	-	Choroidal and retinal colobomas, LCA, NPHP
13**	10.0	+	-	-	-	Postaxial	Postaxial	Postaxial	Postaxial	n.a.	n.a.	Choroidal and retinal colobomas, LCA
14	17.0	+	-	-	-	-	-	Preaxial	Preaxial	+	-	-
15	17.7	+	-	+	+	Mesaxial	Mesaxial	Preaxial	Preaxial	+	+	Bicuspid aortic valve
16	2.0	+	+	-	+	Postaxial	Postaxial	Preaxial	Preaxial	+	-	-

ASD, Atrial septal defect; LCA, Leber's congenital amaurosis; MTS, Molar tooth sign; n.a., not applicable; NPHP, nephronophthisis; OFD VI, Oral-Facial-Digital Syndrome type VI; *, Twins with heterozygous c.517G > A mutation within the AHI1 gene; **, Siblings; °, died.

ISSN: 1750-1172