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Orofaciodigital syndrome type 9

General Information (adopted from Orphanet):

Synonyms, Signs:	OFDS IX ORAL-FACIAL-DIGITAL SYNDROME, TYPE IX OFD9 oral-facial-digital syndrome with retinal abnormalities Oral-facial-digital syndrome type 9 orofaciodigital syndrome with retinal abnormalities
Number of Symptoms	28
OrphanetNr:	141007
OMIM Id:	258865
ICD-10:	Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	No data available.
Inheritance:	Autosomal recessive [Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases:

Orofaciodigital syndrome
-Rare bone disease
-Rare developmental defect during embryogenesis
-Rare genetic disease
-Rare maxillo-facial surgical disease
-Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	DB Freq
1	(HPO:0000455)	Broad nasal tip	67 / 7739
2	(HPO:0000191)	Accessory oral frenulum	6 / 7739
3	(HPO:0000164)	Abnormality of the teeth	291 / 7739
4	(HPO:0000175)	Cleft palate	349 / 7739
5	(HPO:0000506)	Telecanthus	156 / 7739
6	(HPO:0000161)	Median cleft lip	27 / 7739
7	(HPO:0000316)	Hypertelorism	644 / 7739
8	(HPO:0000456)	Bifid nasal tip	11 / 7739
9	(HPO:0000218)	High palate	356 / 7739
10	(HPO:0000486)	Strabismus	576 / 7739
11	(HPO:0001263)	Global developmental delay	853 / 7739
12	(HPO:0001161)	Hand polydactyly	71 / 7739
13	(HPO:0010442)	Polydactyly	69 / 7739
14	(HPO:0001159)	Syndactyly	140 / 7739
15	(HPO:0001770)	Toe syndactyly	149 / 7739
16	(HPO:0005736)	Short tibia	19 / 7739
17	(HPO:0004322)	Short stature	1232 / 7739
18	(HPO:0001056)	Milia	24 / 7739
19	(HPO:0002100)	Recurrent aspiration pneumonia	6 / 7739
20	(HPO:0005349)	Hypoplasia of the epiglottis	7 / 7739
21	(HPO:0010566)	Hamartoma	7 / 7739
22	(HPO:0001419)	X-linked recessive inheritance	189 / 7739
23	(OMIM)	Tongue hamartoma	3 / 7739
24	(OMIM)	Bifid halluces	1 / 7739
25	(OMIM)	Oral frenula	3 / 7739
26	(OMIM)	Tongue lobulation	1 / 7739
27	(OMIM)	Forked metatarsal	1 / 7739
28	(OMIM)	Absent teeth	1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Gurrieri et al. (1992) described 2 brothers with an orofaciodigital syndrome which did not seem to fit into any of the 7 previously described types (Toriello, 1988; Munke et al., 1990). The 2 brothers were mildly mentally retarded. ... Gurrieri et al. (1992) described 2 brothers with an orofaciodigital syndrome which did not seem to fit into any of the 7 previously described types (Toriello, 1988; Munke et al., 1990). The 2 brothers were mildly mentally retarded. Both showed a small notch in the upper lip. The older brother had a highly arched palate with bifid tongue and a supernumerary lower canine bilaterally. The younger brother had a lobulated, hamartomatous tongue, and multiple frenula. The specific retinal abnormalities in the brothers reported by Gurrieri et al. (1992) were retinochoroidal lacunae of colobomatous type, similar to those seen in Aicardi syndrome (304050). Nevin et al. (1994) reported a female case of OFDS with component manifestations typical of type II (252100), namely median cleft of the upper lip, multiple oral frenula, and lobulated or hamartomatous tongue, associated with retinal abnormalities as distinguishing feature. They referred to the disorder as OFDS type IX. Sigaudy et al. (1996) reported the case of a 6-month-old girl with OFD anomalies associated with areas of chorioretinal atrophy. The parents were nonconsanguineous; the maternal and paternal ages at her birth were 33 and 41 years, respectively. She showed multiple hamartomas of the oral cavity, lobulated tongue, alveolar frenula, and a small median cleft of the upper lip. The great toes were broad. Psychomotor development was delayed. CT scan showed atrophy of the frontal and parietal lobes and NMR showed a hypothalamic hamartoma. Nagai et al. (1998) described an affected female with features consistent with OFDS IX who was also noted to have Dandy-Walker malformation and retrobulbar cysts. Erickson and Bodensteiner (2007) described 2 pairs of sibs (2 females, and 1 female and 1 male) from the Navajo population with orofaciodigital syndrome. In addition to retinal colobomas and mild digital anomalies, the sibs also had severe microcephaly, mental retardation, and short stature. Erickson and Bodensteiner (2007) suggested that this condition is a variant of OFDS IX caused by a unique allele of increased frequency in the Navajo population.

Symptoms & Signs

	Field	Query
	Disease
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