Oculofaciocardiodental syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MAA2, FORMERLY
OCULOFACIOCARDIODENTAL SYNDROME
MCOPS2
MICROPHTHALMIA, CATARACTS, RADICULOMEGALY, AND SEPTAL HEART DEFECTS
ANOP2, FORMERLY
ofcd syndrome
Cataract - microphthalmia - radiculomegaly - septal heart defect
Number of Symptoms 99
OrphanetNr: 2712
OMIM Id: 300166
ICD-10: Q87.8
UMLs: C1846265
C2931601
MeSH: C537465
C537735
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic malformation syndrome with odontal and/or periodontal component
 -Rare genetic disease
Malformation syndrome with odontal and/or periodontal component
 -Rare developmental defect during embryogenesis
 -Rare odontologic disease
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare disease with glaucoma as a major feature
 -Rare eye disease
 -Rare genetic disease
Syndromic developmental defect of the eye
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
Syndromic microphthalmia
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001153) Septate vagina 6 / 7739
2
 (HPO:0000047) Hypospadias rare [HPO:skoehler] 250 / 7739
3
 (HPO:0000028) Cryptorchidism 347 / 7739
4
 (HPO:0011819) Submucous cleft soft palate 12 / 7739
5
 (HPO:0000252) Microcephaly 832 / 7739
6
 (HPO:0000185) Cleft soft palate 18 / 7739
7
 (HPO:0011090) Fused teeth 1 / 7739
8
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
9
 (HPO:0011069) Increased number of teeth 39 / 7739
10
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
11
 (HPO:0000193) Bifid uvula 66 / 7739
12
 (HPO:0006315) Single median maxillary incisor Occasional [Orphanet] 13 / 7739
13
 (HPO:0000456) Bifid nasal tip 11 / 7739
14
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
15
 (HPO:0000366) Abnormality of the nose Very frequent [Orphanet] 56 / 7739
16
 (HPO:0000275) Narrow face Frequent [Orphanet] 76 / 7739
17
 (HPO:0000568) Microphthalmia 183 / 7739
18
 (HPO:0000175) Cleft palate 349 / 7739
19
 (HPO:0000581) Blepharophimosis 197 / 7739
20
 (HPO:0007733) Laterally curved eyebrow 2 / 7739
21
 (HPO:0000276) Long face 109 / 7739
22
 (HPO:0000689) Dental malocclusion 114 / 7739
23
 (HPO:0000455) Broad nasal tip 67 / 7739
24
 (HPO:0000677) Oligodontia 41 / 7739
25
 (HPO:0000426) Prominent nasal bridge Frequent [Orphanet] 121 / 7739
26
 (HPO:0002553) Highly arched eyebrow Occasional [Orphanet] 92 / 7739
27
 (HPO:0000528) Anophthalmia 42 / 7739
28
 (HPO:0000574) Thick eyebrow 96 / 7739
29
 (HPO:0000343) Long philtrum Frequent [Orphanet] 262 / 7739
30
 (HPO:0000176) Submucous cleft hard palate 19 / 7739
31
 (HPO:0006335) Persistence of primary teeth 12 / 7739
32
 (HPO:0000684) Delayed eruption of teeth Very frequent [Orphanet] 117 / 7739
33
 (HPO:0009804) Reduced number of teeth Frequent [Orphanet] 137 / 7739
34
 (HPO:0000519) Congenital cataract 73 / 7739
35
 (HPO:0000572) Visual loss 272 / 7739
36
 (HPO:0000501) Glaucoma Occasional [Orphanet] 180 / 7739
37
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Very frequent [Orphanet] 142 / 7739
38
 (HPO:0000577) Exotropia 43 / 7739
39
 (HPO:0000541) Retinal detachment Occasional [Orphanet] rare [HPO:skoehler] 87 / 7739
40
 (HPO:0000518) Cataract Very frequent [Orphanet] 454 / 7739
41
 (HPO:0000618) Blindness 124 / 7739
42
 (HPO:0001083) Ectopia lentis Occasional [Orphanet] 45 / 7739
43
 (HPO:0000667) Phthisis bulbi rare [HPO:skoehler] 4 / 7739
44
 (HPO:0007906) Increased intraocular pressure 30 / 7739
45
 (HPO:0007968) Remnants of the hyaloid vascular system 5 / 7739
46
 (HPO:0000482) Microcornea Very frequent [Orphanet] 102 / 7739
47
 (HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
48
 (HPO:0000612) Iris coloboma Occasional [Orphanet] 116 / 7739
49
 (HPO:0010722) Asymmetry of the ears 3 / 7739
50
 (HPO:0000407) Sensorineural hearing impairment Occasional [Orphanet] 524 / 7739
51
 (HPO:0000598) Abnormality of the ear Occasional [Orphanet] 98 / 7739
52
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
53
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
54
 (HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
55
 (HPO:0001270) Motor delay 322 / 7739
56
 (HPO:0001256) Intellectual disability, mild 141 / 7739
57
 (HPO:0002313) Spastic paraparesis rare [HPO:skoehler] 33 / 7739
58
 (HPO:0002015) Dysphagia Occasional [Orphanet] 301 / 7739
59
 (HPO:0000846) Adrenal insufficiency rare [HPO:skoehler] 24 / 7739
60
 (HPO:0000821) Hypothyroidism rare [HPO:skoehler] 141 / 7739
61
 (HPO:0001761) Pes cavus 225 / 7739
62
 (HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] 288 / 7739
63
 (HPO:0001822) Hallux valgus 70 / 7739
64
 (HPO:0001188) Hand clenching rare [HPO:skoehler] 9 / 7739
65
 (HPO:0002857) Genu valgum Occasional [Orphanet] 144 / 7739
66
 (HPO:0002974) Radioulnar synostosis Frequent [Orphanet] 52 / 7739
67
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Occasional [Orphanet] 80 / 7739
68
 (HPO:0002650) Scoliosis Occasional [Orphanet] rare [HPO:skoehler] 705 / 7739
69
 (HPO:0004691) 2-3 toe syndactyly 50 / 7739
70
 (HPO:0001836) Camptodactyly of toe Frequent [Orphanet] 27 / 7739
71
 (HPO:0001371) Flexion contracture rare [HPO:skoehler] 220 / 7739
72
 (HPO:0001763) Pes planus 176 / 7739
73
 (HPO:0001762) Talipes equinovarus rare [HPO:skoehler] 309 / 7739
74
 (HPO:0001765) Hammertoe 63 / 7739
75
 (HPO:0001770) Toe syndactyly Frequent [Orphanet] 149 / 7739
76
 (HPO:0001838) Rocker bottom foot 85 / 7739
77
 (HPO:0002967) Cubitus valgus Occasional [Orphanet] 49 / 7739
78
 (HPO:0001537) Umbilical hernia rare [HPO:skoehler] 206 / 7739
79
 (HPO:0002566) Intestinal malrotation Occasional [Orphanet] 89 / 7739
80
 (HPO:0004325) Decreased body weight rare [HPO:skoehler] 492 / 7739
81
 (HPO:0004322) Short stature 1232 / 7739
82
 (HPO:0001651) Dextrocardia rare [HPO:skoehler] 38 / 7739
83
 (HPO:0001641) Abnormality of the pulmonary valve Occasional [Orphanet] 27 / 7739
84
 (HPO:0001631) Atria septal defect 274 / 7739
85
 (HPO:0001633) Abnormality of the mitral valve Occasional [Orphanet] 69 / 7739
86
 (HPO:0001650) Aortic valve stenosis 49 / 7739
87
 (HPO:0001629) Ventricular septal defect 316 / 7739
88
 (HPO:0004760) Congenital septal defect Very frequent [Orphanet] 69 / 7739
89
 (HPO:0001719) Double outlet right ventricle rare [HPO:skoehler] 12 / 7739
90
 (HPO:0001642) Pulmonic stenosis 89 / 7739
91
 (HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 228 / 7739
92
 (HPO:0001634) Mitral valve prolapse 69 / 7739
93
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
94
 (OMIM) Delayed dentition 5 / 7739
95
 (OMIM) Canine radiculomegaly 1 / 7739
96
 (OMIM) Root dilacerations (extension) 1 / 7739
97
 (OMIM) Long narrow face 11 / 7739
98
 (HPO:0001423) X-linked dominant inheritance 69 / 7739
99
 (HPO:0002079) Hypoplasia of the corpus callosum rare [HPO:skoehler] 161 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Wilkie et al. (1993) described an average height woman with a long narrow face, congenital cataract, microphthalmia, persistent primary teeth, dental radiculomegaly, and atrial septal defect (ASD). Her mental development was normal. Her daughter, who had mild delay ...
Molecular genetics OMIM Ng et al. (2004) sequenced 11 candidate genes in members of the African American family originally reported by Hoefnagel et al. (1963) and Ogunye et al. (1975) and identified a missense mutation in the BCOR gene (300485.0001) that ...