Oculofaciocardiodental Syndrome (MAA2) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases, Oral diseases, Cardiovascular diseases categories

Summaries for Oculofaciocardiodental Syndrome

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NIH Rare Diseases:42 Oculofaciocardiodental syndrome is a genetic syndrome that affects the eyes, heart, face, and teeth. common signs and symptoms include abnormally small deep-set eyes, cataracts, long narrow face, a broad nasal tip that is divided by a cleft, heart defects, and teeth with very large roots. other signs and symptoms include glaucoma, cleft palate, delayed loss of baby teeth, missing or abnormally small teeth, misaligned teeth, and defective tooth enamel. eye symptoms may involve one or both eyes.oculofaciocardiodental syndrome is caused by mutations in the bcor gene and is inherited in an x-linked dominant fashion. last updated: 12/21/2012

MalaCards based summary: Oculofaciocardiodental Syndrome, also known as ofcd syndrome, is related to microphthalmia and lenz microphthalmia syndrome, and has symptoms including microcornea, cataract and delayed eruption of teeth. An important gene associated with Oculofaciocardiodental Syndrome is BCOR (BCL6 corepressor). Affiliated tissues include heart, eye and testes.

Genetics Home Reference:22 Lenz microphthalmia syndrome is a condition characterized by abnormal development of the eyes and several other parts of the body. It occurs almost exclusively in males.

Wikipedia:64 Oculofaciocardiodental syndrome is a rare X linked genetic disorder. more...

Descriptions from OMIM:46 300166,309800

Aliases & Classifications for Oculofaciocardiodental Syndrome

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42NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 61UMLS, 27ICD10 via Orphanet, 62UMLS via Orphanet, 35MESH via Orphanet
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Oculofaciocardiodental Syndrome, Aliases & Descriptions:

Name: Oculofaciocardiodental Syndrome 42 23 22 48 61
Ofcd Syndrome 42 22 44 48
Microphthalmia, Syndromic 2 22 46 61
Oculo-Facio-Cardio-Dental Syndrome 22 61
Syndromic Microphthalmia Type 2 42 21
Microphthalmia Syndromic 2 42 61
Mcops2 42 22
Microphthalmia, Cataracts, Radiculomegaly, and Septal Heart Defects 22
Microphthalmia Cataracts Radiculomegaly and Septal Heart Defects 42
Cataract - Microphthalmia - Radiculomegaly - Septal Heart Defect 48
Microphthalmia, Lenz Type 48
Lenz Microphthalmia 48
Anop2 42
Maa2 42


Characteristics (Orphanet epidemiological data):

microphthalmia, lenz type:
Inheritance: X-linked recessive; Age of onset: Neonatal/infancy
oculofaciocardiodental syndrome:
Inheritance: X-linked dominant; Age of onset: Neonatal/infancy

External Ids:

ICD10 via Orphanet27 Q11.2, Q87.8
UMLS via Orphanet62 C0796016, C1846265, C2931601
MESH via Orphanet35 C537465, C537735

Related Diseases for Oculofaciocardiodental Syndrome

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Diseases related to Oculofaciocardiodental Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
2lenz microphthalmia syndrome10.5
3bcor-related lenz microphthalmia syndrome10.4
4townes-brocks syndrome10.2
5mental retardation10.2
6radiculomegaly of canine teeth- congenital cataract10.1
7otodental syndrome10.1

Graphical network of diseases related to Oculofaciocardiodental Syndrome:

Diseases related to oculofaciocardiodental syndrome

Symptoms for Oculofaciocardiodental Syndrome

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:



 48 (show all 71)
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • x-linked recessive inheritance
  • microcornea
  • cataract/lens opacification
  • bifid tip/cleft nose/supernumerary nose
  • anomalies of teeth and dentition
  • delayed dentition/eruption of teeth/lack of eruption of teeth
  • cardiac septal defect
  • x-linked dominant inheritance
  • microcephaly
  • glaucoma
  • coloboma of iris
  • retinoschisis/retinal/chorioretinal coloboma
  • coloboma of the optic nerve
  • cleft lip and palate
  • tooth shape anomaly
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • external ear anomalies
  • low set ears/posteriorly rotated ears
  • syndactyly of fingers/interdigital palm
  • camptodactyly of fingers
  • clinodactyly of fifth finger
  • thumb duplication/distal bifid thumb phalangeal bone
  • agenesis/hypoplasia/aplasia of kidneys
  • ureterocele/cystic dilation/dilatation of the ureter/ureterovasical stenosis
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • hypospadias/epispadias/bent penis
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • short stature/dwarfism/nanism
  • narrow face
  • high nasal bridge
  • long philtrum
  • high vaulted/narrow palate
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • anodontia/oligodontia/hypodontia
  • radioulnar synostosis
  • flexion deformity of toes (excluding big toe)/hammer toe/camptodactyly of toes
  • syndactyly of toes
  • visual loss/blindness/amblyopia
  • nystagmus
  • cryptophthalmia/ankyloblepharon/synblepharon
  • preauricular/branchial tags/appendages
  • hearing loss/hypoacusia/deafness
  • webbed neck/pterygium colli
  • clavicle absent/abnormal
  • narrow/sloping shoulders
  • long rib cage/thorax
  • kyphosis
  • lordosis
  • scoliosis
  • congenital cardiac anomaly/malformation/cardiopathy
  • corpus callosum/septum pellucidum total/partial agenesis
  • seizures/epilepsy/absences/spasms/status epilepticus
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • auto-aggressivity/auto-mutilation
  • lens dislocation/luxation/subluxation/ectopia lentis
  • retinal detachment
  • high arched eyebrows
  • ptosis
  • solitary median incisor
  • anomalies of ear and hearing
  • sensorineural deafness/hearing loss
  • cubitus valgus
  • thumb hypoplasia/aplasia/absence
  • genu valgum
  • intestinal/gut/bowel malrotation
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
  • pulmonary valve atresia/stenosis/narrowing
  • patent ductus arteriosus

HPO human phenotypes related to Oculofaciocardiodental Syndrome:

(show all 106)
id Description Frequency HPO Source Accession
1 microcornea hallmark (90%) HP:0000482
2 cataract hallmark (90%) HP:0000518
3 delayed eruption of teeth hallmark (90%) HP:0000684
4 abnormality of the cardiac septa hallmark (90%) HP:0001671
5 midline defect of the nose hallmark (90%) HP:0004122
6 aplasia/hypoplasia affecting the eye hallmark (90%) HP:0008056
7 cleft palate typical (50%) HP:0000175
8 narrow face typical (50%) HP:0000275
9 long philtrum typical (50%) HP:0000343
10 prominent nasal bridge typical (50%) HP:0000426
11 toe syndactyly typical (50%) HP:0001770
12 camptodactyly of toe typical (50%) HP:0001836
13 radioulnar synostosis typical (50%) HP:0002974
14 reduced number of teeth typical (50%) HP:0009804
15 cryptorchidism typical (50%) HP:0000028
16 abnormality of the ureter typical (50%) HP:0000069
17 oral cleft typical (50%) HP:0000202
18 microcephaly typical (50%) HP:0000252
19 low-set, posteriorly rotated ears typical (50%) HP:0000368
20 microcornea typical (50%) HP:0000482
21 glaucoma typical (50%) HP:0000501
22 chorioretinal coloboma typical (50%) HP:0000567
23 optic nerve coloboma typical (50%) HP:0000588
24 iris coloboma typical (50%) HP:0000612
25 preaxial hand polydactyly typical (50%) HP:0001177
26 clinodactyly of the 5th finger typical (50%) HP:0004209
27 short stature typical (50%) HP:0004322
28 finger syndactyly typical (50%) HP:0006101
29 abnormality of dental morphology typical (50%) HP:0006482
30 external ear malformation typical (50%) HP:0008572
31 renal hypoplasia/aplasia typical (50%) HP:0008678
32 camptodactyly of finger typical (50%) HP:0100490
33 cognitive impairment typical (50%) HP:0100543
34 displacement of the external urethral meatus typical (50%) HP:0100627
35 sensorineural hearing impairment occasional (7.5%) HP:0000407
36 glaucoma occasional (7.5%) HP:0000501
37 ptosis occasional (7.5%) HP:0000508
38 retinal detachment occasional (7.5%) HP:0000541
39 iris coloboma occasional (7.5%) HP:0000612
40 ectopia lentis occasional (7.5%) HP:0001083
41 abnormality of the mitral valve occasional (7.5%) HP:0001633
42 abnormality of the pulmonary valve occasional (7.5%) HP:0001641
43 patent ductus arteriosus occasional (7.5%) HP:0001643
44 highly arched eyebrow occasional (7.5%) HP:0002553
45 intestinal malrotation occasional (7.5%) HP:0002566
46 scoliosis occasional (7.5%) HP:0002650
47 genu valgum occasional (7.5%) HP:0002857
48 cubitus valgus occasional (7.5%) HP:0002967
49 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
50 single median maxillary incisor occasional (7.5%) HP:0006315
51 feeding difficulties in infancy occasional (7.5%) HP:0008872
52 aplasia/hypoplasia of the thumb occasional (7.5%) HP:0009601
53 cognitive impairment occasional (7.5%) HP:0100543
54 hearing impairment occasional (7.5%) HP:0000365
55 preauricular skin tag occasional (7.5%) HP:0000384
56 webbed neck occasional (7.5%) HP:0000465
57 visual impairment occasional (7.5%) HP:0000505
58 cataract occasional (7.5%) HP:0000518
59 nystagmus occasional (7.5%) HP:0000639
60 delayed eruption of teeth occasional (7.5%) HP:0000684
61 abnormality of the clavicles occasional (7.5%) HP:0000889
62 seizures occasional (7.5%) HP:0001250
63 neurological speech impairment occasional (7.5%) HP:0002167
64 malformation of the heart and great vessels occasional (7.5%) HP:0002564
65 kyphosis occasional (7.5%) HP:0002808
66 abnormality of the shoulder occasional (7.5%) HP:0003043
67 hyperlordosis occasional (7.5%) HP:0003307
68 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
69 abnormality of the palpebral fissures occasional (7.5%) HP:0008050
70 self-injurious behavior occasional (7.5%) HP:0100716
71 long thorax occasional (7.5%) HP:0100818
72 submucous cleft hard palate HP:0000176
73 bifid uvula HP:0000193
74 narrow face HP:0000275
75 long face HP:0000276
76 long philtrum HP:0000343
77 sensorineural hearing impairment HP:0000407
78 prominent nasal bridge HP:0000426
79 broad nasal tip HP:0000455
80 bifid nasal tip HP:0000456
81 microcornea HP:0000482
82 glaucoma HP:0000501
83 ptosis HP:0000508
84 congenital cataract HP:0000519
85 microphthalmos HP:0000568
86 visual loss HP:0000572
87 thick eyebrow HP:0000574
88 exotropia HP:0000577
89 blepharophimosis HP:0000581
90 oligodontia HP:0000677
91 delayed eruption of teeth HP:0000684
92 dental malocclusion HP:0000689
93 septate vagina HP:0001153
94 intellectual disability, mild HP:0001256
95 x-linked dominant inheritance HP:0001423
96 ventricular septal defect HP:0001629
97 defect in the atrial septum HP:0001631
98 mitral valve prolapse HP:0001634
99 hammertoe HP:0001765
100 short stature HP:0004322
101 2-3 toe syndactyly HP:0004691
102 persistence of primary teeth HP:0006335
103 laterally curved eyebrow HP:0007733
104 persistent hyperplastic primary vitreous HP:0007968
105 increased number of teeth HP:0011069
106 fused teeth HP:0011090

Drugs & Therapeutics for Oculofaciocardiodental Syndrome

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Drug clinical trials:

Search ClinicalTrials for Oculofaciocardiodental Syndrome

Search NIH Clinical Center for Oculofaciocardiodental Syndrome

Genetic Tests for Oculofaciocardiodental Syndrome

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Genetic tests related to Oculofaciocardiodental Syndrome:

id Genetic test Affiliating Genes
1 Syndromic Microphthalmia 221 BCOR
2 Oculofaciocardiodental Syndrome23

Anatomical Context for Oculofaciocardiodental Syndrome

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MalaCards organs/tissues related to Oculofaciocardiodental Syndrome:

Heart, Eye, Testes, Bone, Kidney

Animal Models for Oculofaciocardiodental Syndrome or affiliated genes

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Publications for Oculofaciocardiodental Syndrome

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Articles related to Oculofaciocardiodental Syndrome:

Oculofaciocardiodental syndrome: novel BCOR mutations and expression in dental cells. (24694763)
BCOR mutations and unstoppable root growth: a commentary on oculofaciocardiodental syndrome: novel BCOR mutations and expression in dental cells. (24785690)
Oculofaciocardiodental syndrome: a rare case and review of the literature. (21740180)
A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS. (22301464)
Oculofaciocardiodental syndrome: report of a rare case. (19093058)
Oculofaciocardiodental syndrome and orthodontics. (17208111)
Case reports of oculofaciocardiodental syndrome with unusual dental findings. (15957158)

Variations for Oculofaciocardiodental Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Oculofaciocardiodental Syndrome:

id Symbol AA change Variation ID SNP ID

Clinvar genetic disease variations for Oculofaciocardiodental Syndrome:

id Gene Name Type Significance SNP ID Assembly Location
1NAA10NAA10, IVS7DS, T-A, +2single nucleotide variantPathogenic
2BCORNM_001123384.1(BCOR): c.254C> T (p.Pro85Leu)single nucleotide variantPathogenicrs121434618GRCh37Chr X, 39934345: 39934345
3BCORBCOR, IVS8AS, G-T, -1single nucleotide variantPathogenic
4BCORNM_001123384.1(BCOR): c.2926C> T (p.Arg976Ter)single nucleotide variantPathogenicrs121434619GRCh37Chr X, 39931673: 39931673
5BCORBCOR, 1-BP DEL, 3881AdeletionPathogenic
6BCORBCOR, EX9-15DELdeletionPathogenic
7BCORBCOR, 2-BP DEL, 2488AGdeletionPathogenic
8BCORBCOR, 1-BP DEL, 3286GdeletionPathogenic
9BCORBCOR, 60-KB DELdeletionPathogenic
10BCORBCOR, 1-BP DEL, 1315CdeletionPathogenic

Expression for genes affiliated with Oculofaciocardiodental Syndrome

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Expression patterns in normal tissues for genes affiliated with Oculofaciocardiodental Syndrome

Search GEO for disease gene expression data for Oculofaciocardiodental Syndrome.

Pathways for genes affiliated with Oculofaciocardiodental Syndrome

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Compounds for genes affiliated with Oculofaciocardiodental Syndrome

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GO Terms for genes affiliated with Oculofaciocardiodental Syndrome

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Products for genes affiliated with Oculofaciocardiodental Syndrome

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Sources for Oculofaciocardiodental Syndrome

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27ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet