BCDS1
MCID: BLP047
MIFTS: 53

Blepharocheilodontic Syndrome 1 (BCDS1)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Blepharocheilodontic Syndrome 1

MalaCards integrated aliases for Blepharocheilodontic Syndrome 1:

Name: Blepharocheilodontic Syndrome 1 56 12 52 73 6
Blepharocheilodontic Syndrome 56 12 52 25 58 73 15
Elschnig Syndrome 56 52 25 58 73
Bcd Syndrome 56 52 25 58 73
Lagophthalmia with Bilateral Cleft Lip and Palate 56 52 25 73
Clefting, Ectropion, and Conical Teeth 56 52 25 73
Blepharo-Cheilo-Odontic Syndrome 12 52 25 58
Ectropion, Inferior, with Cleft Lip and/or Palate 56 25 73
Blepharo-Cheilo-Dontic Syndrome 52 25 71
Bcds 56 25 73
Ectropion Inferior Cleft Lip and or Palate 52 29
Bcds1 56 73
Ectropion Inferior-Cleft Lip and/or Palate Syndrome 58
Lagophthalmia-Cleft Lip and Palate Syndrome 58
Clefting-Ectropion-Conical Teeth Syndrome 58
Syndrome, Blepharocheilodontic, Type 1 39
Blepharocheilodontic Syndrome; Bcds 56
Syndrome, Blepharocheilodontic 39
Tooth Abnormalities 43

Characteristics:

Orphanet epidemiological data:

58
blepharo-cheilo-odontic syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance observed in some families


HPO:

31
blepharocheilodontic syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


Summaries for Blepharocheilodontic Syndrome 1

Genetics Home Reference : 25 Blepharocheilodontic (BCD) syndrome is a disorder that is present at birth. It mainly affects the eyelids (blepharo-), upper lip (-cheilo-), and teeth (-dontic). People with BCD syndrome have lower eyelids that turn out so that the inner surface is exposed (ectropion). The outside of the lower lid may sag away from the eye (euryblepharon), and the eyelids may not be able to close completely (lagophthalmia). There can be extra eyelashes (distichiasis) on the upper eyelids, ranging from a few extra eyelashes to a full extra set. These eyelashes do not grow along the edge of the eyelid with the normal lashes, but out of its inner lining. When the abnormal eyelashes touch the eyeball, they can cause damage to the clear covering of the eye (cornea). Affected individuals may also have widely spaced eyes (hypertelorism), a flat face, and a high forehead. Other features of BCD syndrome usually include openings on both sides of the upper lip (bilateral cleft lip) and an opening in the roof of the mouth (cleft palate). Affected individuals may have fewer teeth than normal (oligodontia) and their teeth are often smaller than usual and cone-shaped. The dental abnormalities affect both primary teeth (sometimes called "baby teeth") and secondary (permanent) teeth. Other frequent features include sparse, fine hair and abnormal nails. Occasionally people with BCD syndrome have additional features, including an obstruction of the anal opening (imperforate anus); malformation or absence of the butterfly-shaped gland in the lower neck called the thyroid, resulting in lack of thyroid gland function; or fused fingers or toes (syndactyly). Very rarely, affected individuals have incompletely formed arms or legs (limb reduction defects) or a spinal cord abnormality known as spina bifida.

MalaCards based summary : Blepharocheilodontic Syndrome 1, also known as blepharocheilodontic syndrome, is related to euryblepharon and distichiasis. An important gene associated with Blepharocheilodontic Syndrome 1 is CDH1 (Cadherin 1), and among its related pathways/superpathways are Cytoskeletal Signaling and Adhesion. The drugs sodium fluoride and Calcium have been mentioned in the context of this disorder. Affiliated tissues include eye, thyroid and breast, and related phenotypes are distichiasis and ectropion of lower eyelids

Disease Ontology : 12 A syndrome that is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth.

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1997 Definition Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth. Epidemiology Prevalence is unknown. Over 50 cases have been described in literature to date. Clinical description Blepharo-cheilo-odontic syndrome is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. Additional occasional features include hypertelorism, lagophthalmos, imperforate anus, and syndactyly . Etiology Etiology is unknown. Genetic counseling Transmission is autosomal dominant with 100% penetrance. Visit the Orphanet disease page for more resources.

OMIM : 56 The blepharocheilodontic syndrome is a rare autosomal dominant disorder characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. An additional rare manifestation is imperforate anus (summary by Weaver et al., 2010). (119580)

UniProtKB/Swiss-Prot : 73 Blepharocheilodontic syndrome 1: A form of blepharocheilodontic syndrome, a rare autosomal dominant disorder. It is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and features of ectodermal dysplasia, including hair anomalies, conical teeth and tooth agenesis. An additional rare manifestation is imperforate anus. There is considerable phenotypic variability among affected individuals.

Related Diseases for Blepharocheilodontic Syndrome 1

Diseases in the Blepharocheilodontic Syndrome 1 family:

Blepharocheilodontic Syndrome 2

Diseases related to Blepharocheilodontic Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 130)
# Related Disease Score Top Affiliating Genes
1 euryblepharon 31.1 CTNND1 CDH1
2 distichiasis 30.9 CTNND1 CDH1
3 ectropion 30.7 CTNND1 CDH1
4 blepharocheilodontic syndrome 2 12.8
5 bietti crystalline corneoretinal dystrophy 12.4
6 microcephalic osteodysplastic primordial dwarfism, type ii 11.2
7 catifa syndrome 11.2
8 hyper-ige recurrent infection syndrome 1, autosomal dominant 10.9
9 oculodentodigital dysplasia 10.9
10 epidermolysis bullosa, junctional, non-herlitz type 10.9
11 singleton-merten syndrome 10.9
12 tooth agenesis 10.4
13 cleft lip 10.3
14 cleft lip/palate 10.3
15 lipid-rich carcinoma 10.3 PIP CDH1
16 microglandular adenosis 10.3 PIP CDH1
17 gastric cancer, hereditary diffuse 10.2
18 diffuse gastric cancer 10.2
19 adenoid squamous cell carcinoma 10.2 KRT8 CDH1
20 eating disorder 10.2
21 bartholin's gland adenocarcinoma 10.1 PIP GATA3
22 lobular neoplasia 10.1 PIP CTNND1 CDH1
23 sarcomatoid renal cell carcinoma 10.1 GATA3 CDH1
24 eccrine papillary adenoma 10.1 PIP KRT8
25 hidrocystoma 10.1 PIP KRT8
26 esophageal adenosquamous carcinoma 10.1 CDX2 CDH1
27 lymphoepithelioma-like carcinoma 10.1 KRT8 CDH1
28 cutaneous adenocystic carcinoma 10.1 PIP KRT8
29 cri-du-chat syndrome 10.1 CTNND1 CDH17
30 apocrine sweat gland neoplasm 10.1 PIP KRT8
31 sweat gland neoplasm 10.1 PIP KRT8
32 apocrine adenocarcinoma 10.1 PIP GATA3
33 anorectal anomalies 10.1
34 anus, imperforate 10.1
35 lagophthalmos 10.1
36 ectodermal dysplasia 10.1
37 anal canal paget's disease 10.1 PIP CDX2
38 anal paget's disease 10.1 PIP CDX2
39 teeth, supernumerary 10.1
40 gastric signet ring cell adenocarcinoma 10.1 PIP CDX2
41 vulva adenocarcinoma 10.1 PIP CDX2
42 anal canal adenocarcinoma 10.1 PIP CDX2
43 hair whorl 10.0
44 leukemia, chronic lymphocytic 10.0
45 myeloma, multiple 10.0
46 osteogenic sarcoma 10.0
47 postaxial acrofacial dysostosis 10.0
48 taurodontism 10.0
49 yemenite deaf-blind hypopigmentation syndrome 10.0
50 anorexia nervosa 10.0

Graphical network of the top 20 diseases related to Blepharocheilodontic Syndrome 1:



Diseases related to Blepharocheilodontic Syndrome 1

Symptoms & Phenotypes for Blepharocheilodontic Syndrome 1

Human phenotypes related to Blepharocheilodontic Syndrome 1:

58 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 distichiasis 58 31 hallmark (90%) Very frequent (99-80%) HP:0009743
2 ectropion of lower eyelids 58 31 hallmark (90%) Very frequent (99-80%) HP:0007651
3 bilateral cleft lip and palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002744
4 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
5 finger syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0006101
6 carious teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000670
7 abnormality of vision 58 31 frequent (33%) Frequent (79-30%) HP:0000504
8 conductive hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000405
9 conical tooth 58 31 frequent (33%) Frequent (79-30%) HP:0000698
10 euryblepharon 58 31 frequent (33%) Frequent (79-30%) HP:0012905
11 abnormal hair quantity 58 31 occasional (7.5%) Occasional (29-5%) HP:0011362
12 anal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002023
13 epidermoid cyst 58 31 occasional (7.5%) Occasional (29-5%) HP:0200040
14 choanal atresia 31 very rare (1%) HP:0000453
15 high anterior hairline 31 very rare (1%) HP:0009890
16 cutaneous syndactyly 31 very rare (1%) HP:0012725
17 clinodactyly 31 HP:0030084
18 small nail 31 HP:0001792
19 abnormality of the eye 58 Frequent (79-30%)
20 flat face 31 HP:0012368
21 abnormality of the eyelid 58 Very frequent (99-80%)
22 high forehead 31 HP:0000348
23 cleft upper lip 31 HP:0000204
24 hypodontia 31 HP:0000668
25 sparse hair 31 HP:0008070
26 neural tube defect 31 HP:0045005

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
ectropion of lower eyelids
lagophthalmia (incomplete closure of eyelids)
megaloblepharon
distichiasis (double row of eyelashes)

Head And Neck Face:
flat face
high forehead
asymmetric face (in some patients)
high anterior hairline (in some patients)

Skin Nails Hair Hair:
distichiasis
sparse hair

Head And Neck Nose:
choanal atresia (rare)

Abdomen Gastrointestinal:
imperforate anus (in some patients)

Endocrine Features:
thyroid hypoplasia or agenesis (uncommon)

Skeletal Hands:
clinodactyly
syndactyly, cutaneous (in some patients)

Head And Neck Teeth:
hypodontia
conical teeth
delayed dentition (rare)

Skin Nails Hair Nails:
hypoplastic nails

Head And Neck Mouth:
cleft lip and/or palate

Neurologic Central Nervous System:
neural tube defect (uncommon)

Clinical features from OMIM:

119580

MGI Mouse Phenotypes related to Blepharocheilodontic Syndrome 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.86 CDH1 CDX2 CSK GATA3 KRT8 PALB2
2 cellular MP:0005384 9.76 CDH1 CDX2 CSK CTNND1 GATA3 MAP3K6
3 digestive/alimentary MP:0005381 9.56 CDH1 CDH17 CDX2 CTNND1 GATA3 KRT8
4 neoplasm MP:0002006 9.02 CDH1 CDX2 CTNND1 MAP3K6 PALB2

Drugs & Therapeutics for Blepharocheilodontic Syndrome 1

Drugs for Blepharocheilodontic Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 sodium fluoride Approved 7681-49-4
2
Calcium Approved, Nutraceutical 7440-70-2 271
3 Fluorides
4 Protective Agents
5 Calcium, Dietary
6 Listerine
7 Cariostatic Agents
8 Fluorides, Topical
9 Nutrients
10 Trace Elements
11
Nickel 7440-02-0 934
12 Micronutrients

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Evaluation of Vertical Augmentation of Alveolar Bone With Osteon at Dental Implant Placement Unknown status NCT01162629
2 Evaluation of a Low-fluoride Anticaries Toothpaste Containing an Innovative Calcium Technology Completed NCT01094210 Fluorides, Topical
3 Ideal Point of Transluminal Light in Tracheal Intubation With a Light Wand Completed NCT03480035
4 Clinical Success of Artificial Root-End Barriers With Mineral Trioxide Aggregate in Teeth With Immature Apices Completed NCT00595842
5 A Clinical Comparison of the Effectiveness of Two Types of Orthodontic Aligning Archwire Materials: A Randomized Clinical Trial Completed NCT04090931

Search NIH Clinical Center for Blepharocheilodontic Syndrome 1

Cochrane evidence based reviews: tooth abnormalities

Genetic Tests for Blepharocheilodontic Syndrome 1

Genetic tests related to Blepharocheilodontic Syndrome 1:

# Genetic test Affiliating Genes
1 Ectropion Inferior Cleft Lip and or Palate 29 CDH1

Anatomical Context for Blepharocheilodontic Syndrome 1

MalaCards organs/tissues related to Blepharocheilodontic Syndrome 1:

40
Eye, Thyroid, Breast, Spinal Cord, Bone, Skin, Thymus

Publications for Blepharocheilodontic Syndrome 1

Articles related to Blepharocheilodontic Syndrome 1:

(show all 19)
# Title Authors PMID Year
1
Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1. 61 56 6
28301459 2017
2
Exome sequencing-based identification of mutations in non-syndromic genes among individuals with apparently syndromic features. 56 6
27566442 2016
3
Imperforate anus is a rare associated finding in blepharocheilodontic syndrome. 61 56
20101698 2010
4
Preliminary molecular studies on blepharocheilodontic syndrome. 61 56
17937431 2007
5
Blepharocheilodontic syndrome or lagophthalmos: a child with overlapping features. 61 56
15930907 2005
6
Blepharo-cheilo-dontic (BCD) syndrome: expanding the phenotype, case report and review of literature. 56
24719364 2014
7
Blepharo-cheilo-dontic (BCD) syndrome with agenesis of thyroid broadens the phenotype and extends the discussion about the genes. 56
15389707 2004
8
Blepharocheilodontic (BCD) syndrome: expanding the phenotype? 56
12923869 2003
9
Blepharo-cheilo-dontic (BCD) syndrome in two Mexican patients. 56
10406669 1999
10
Blepharo-Cheilo-Dontic (BCD) syndrome: report on four new patients. 56
9511975 1998
11
Blepharo-cheilo-dontic (BCD) syndrome. 56
8911600 1996
12
Distinct craniofacial syndrome of lagophthalmia and bilateral cleft lip and palate. 56
8588591 1995
13
Cleft lip/palate-oligodontia-syndactyly-hair alterations, a new syndrome: review of the conditions combining ectodermal dysplasia and cleft lip/palate. 56
3037904 1987
14
Familial clefting syndrome with ectropion and dental anomaly--without limb anomalies. 56
3995794 1985
15
Congenital ectropion and distichiasis; etiologic and hereditary factors: a report of cases and review of the literature. 56
13627093 1959
16
A genome-wide significant association on chromosome 15 for congenital entropion in Swiss White Alpine sheep. 61
31945208 2020
17
Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome. 61
29348693 2018
18
CDH1 Gene and Hereditary Diffuse Gastric Cancer Syndrome: Molecular and Histological Alterations and Implications for Diagnosis And Treatment. 61
30568591 2018
19
Blepharocheilodontic syndrome: surgical management of euryblepharon and nocturnal eyelid eversion. 61
15220581 2004

Variations for Blepharocheilodontic Syndrome 1

ClinVar genetic disease variations for Blepharocheilodontic Syndrome 1:

6 (show all 15) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CDH1 NM_004360.5(CDH1):c.1147C>T (p.Gln383Ter)SNV Pathogenic 142888 rs587782798 16:68847225-68847225 16:68813322-68813322
2 CDH1 NM_004360.5(CDH1):c.220C>T (p.Arg74Ter)SNV Pathogenic 239891 rs876658932 16:68835629-68835629 16:68801726-68801726
3 CDH1 NM_004360.5(CDH1):c.1320+1G>CSNV Pathogenic 265635 rs886039685 16:68847399-68847399 16:68813496-68813496
4 CDH1 NM_004360.5(CDH1):c.1320G>T (p.Lys440Asn)SNV Pathogenic 438812 rs1555515925 16:68847398-68847398 16:68813495-68813495
5 CDH1 NM_004360.5(CDH1):c.760G>T (p.Asp254Tyr)SNV Pathogenic 438813 rs1555515445 16:68844172-68844172 16:68810269-68810269
6 CDH1 NM_004360.5(CDH1):c.2028C>A (p.Asp676Glu)SNV Pathogenic 438814 rs1555517099 16:68857393-68857393 16:68823490-68823490
7 CDH1 NM_004360.5(CDH1):c.1843A>G (p.Ile615Val)SNV Uncertain significance 481702 rs1003012321 16:68856035-68856035 16:68822132-68822132
8 CDH1 NM_004360.5(CDH1):c.377C>T (p.Pro126Leu)SNV Uncertain significance 184629 rs746703615 16:68835786-68835786 16:68801883-68801883
9 CDH1 NM_004360.5(CDH1):c.1171G>A (p.Val391Ile)SNV Uncertain significance 184651 rs556110297 16:68847249-68847249 16:68813346-68813346
10 CDH1 NM_004360.5(CDH1):c.1250A>G (p.Asn417Ser)SNV Uncertain significance 185286 rs773441320 16:68847328-68847328 16:68813425-68813425
11 CDH1 NM_004360.5(CDH1):c.1774G>T (p.Ala592Ser)SNV Uncertain significance 184624 rs35187787 16:68855966-68855966 16:68822063-68822063
12 CDH1 NM_004360.5(CDH1):c.2595G>C (p.Trp865Cys)SNV Uncertain significance 216595 rs778019174 16:68867348-68867348 16:68833445-68833445
13 CDH1 NM_004360.5(CDH1):c.1370C>T (p.Thr457Met)SNV Uncertain significance 133845 rs587778170 16:68849467-68849467 16:68815564-68815564
14 CDH1 NM_004360.5(CDH1):c.2474C>T (p.Pro825Leu)SNV Uncertain significance 140841 rs587781312 16:68867227-68867227 16:68833324-68833324
15 CDH1 NM_004360.5(CDH1):c.2398C>T (p.Arg800Cys)SNV Uncertain significance 141990 rs587782162 16:68863659-68863659 16:68829756-68829756

UniProtKB/Swiss-Prot genetic disease variations for Blepharocheilodontic Syndrome 1:

73
# Symbol AA change Variation ID SNP ID
1 CDH1 p.Asp254Tyr VAR_079392 rs155551544
2 CDH1 p.Asp257Val VAR_079393

Expression for Blepharocheilodontic Syndrome 1

Search GEO for disease gene expression data for Blepharocheilodontic Syndrome 1.

Pathways for Blepharocheilodontic Syndrome 1

Pathways related to Blepharocheilodontic Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.75 PDPN KRT8 CTNND1 CDH1
2 11.42 CTNND1 CDH17 CDH1
3 11.01 CTNND1 CDH1
4 10.97 CTNND1 CDH1
5 10.84 CTNND1 CDH1
6 10.58 GATA3 CDX2 CDH1
7 10.54 CTNND1 CDH1

GO Terms for Blepharocheilodontic Syndrome 1

Cellular components related to Blepharocheilodontic Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell-cell junction GO:0005911 9.43 KRT8 CTNND1 CSK
2 lamellipodium GO:0030027 9.33 PDPN CTNND1 CDH1
3 cell-cell adherens junction GO:0005913 9.13 CTNND1 CDH17 CDH1
4 catenin complex GO:0016342 8.8 CTNND1 CDH17 CDH1

Biological processes related to Blepharocheilodontic Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell-cell adhesion GO:0098609 9.54 CTNND1 CDH17 CDH1
2 cell-cell junction assembly GO:0007043 9.43 CTNND1 CDH17 CDH1
3 embryonic organ development GO:0048568 9.4 PALB2 GATA3
4 cell-cell adhesion mediated by cadherin GO:0044331 9.33 CTNND1 CDH17 CDH1
5 entry of bacterium into host cell GO:0035635 9.32 CTNND1 CDH1
6 cell morphogenesis GO:0000902 9.26 PDPN GATA3 CDH17 CDH1
7 adherens junction organization GO:0034332 8.92 CTNND1 CSK CDH17 CDH1

Sources for Blepharocheilodontic Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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