MCID: BLP043
MIFTS: 27

Blepharocheilodontic Syndrome

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

Aliases & Classifications for Blepharocheilodontic Syndrome

MalaCards integrated aliases for Blepharocheilodontic Syndrome:

Name: Blepharocheilodontic Syndrome 54 50 25 56
Blepharo-Cheilo-Dontic Syndrome 50 25 69
Bcd Syndrome 50 25 56
Lagophthalmia with Bilateral Cleft Lip and Palate 50 25
Clefting, Ectropion, and Conical Teeth 50 25
Blepharo-Cheilo-Odontic Syndrome 25 56
Elschnig Syndrome 50 25
Ectropion Inferior-Cleft Lip and or Palate Syndrome 56
Ectropion, Inferior, with Cleft Lip and/or Palate 25
Lagophthalmia-Cleft Lip and Palate Syndrome 56
Ectropion Inferior Cleft Lip and or Palate 50
Clefting-Ectropion-Conical Teeth Syndrome 56
Elsching Syndrome 56
Bcds 25

Characteristics:

Orphanet epidemiological data:

56
blepharo-cheilo-odontic syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance observed in some families


HPO:

32
blepharocheilodontic syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Blepharocheilodontic Syndrome

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 1997disease definitionblepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth.epidemiologyprevalence is unknown. over 50 cases have been described in literature to date.clinical descriptionblepharo-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.etiologyetiology is unknown.genetic counselingtransmission is autosomal dominant with 100% penetrance.visit the orphanet disease page for more resources. last updated: 10/21/2013

MalaCards based summary : Blepharocheilodontic Syndrome, also known as blepharo-cheilo-dontic syndrome, is related to bietti crystalline corneoretinal dystrophy and eating disorder, and has symptoms including hypertelorism, finger syndactyly and anal atresia. Affiliated tissues include eye, skin and thyroid.

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).

OMIM : 54
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)

Related Diseases for Blepharocheilodontic Syndrome

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

id Related Disease Score Top Affiliating Genes
1 bietti crystalline corneoretinal dystrophy 11.7
2 eating disorder 9.8
3 dwarfism 9.8
4 imperforate anus 9.8
5 lagophthalmos 9.8
6 euryblepharon 9.8

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



Diseases related to Blepharocheilodontic Syndrome

Symptoms & Phenotypes for Blepharocheilodontic Syndrome

Symptoms via clinical synopsis from OMIM:

54

Skin Nails & Hair- Nails:
hypoplastic nails

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

Head And Neck- Mouth:
cleft lip and/or palate

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

Head And Neck- Nose:
choanal atresia (rare)

Endocrine Features:
thyroid hypoplasia or agenesis (uncommon)

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

Skin Nails & Hair- Hair:
sparse hair
distichiasis

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

Abdomen- Gastroin testinal:
imperforate anus (in some patients)

Neurologic- Central Nervous System:
neural tube defect (uncommon)


Clinical features from OMIM:

119580

Human phenotypes related to Blepharocheilodontic Syndrome:

56 32 (show all 20)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 56 32 frequent (33%) Frequent (79-30%) HP:0000316
2 finger syndactyly 56 32 frequent (33%) Frequent (79-30%) HP:0006101
3 anal atresia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002023
4 carious teeth 56 32 frequent (33%) Frequent (79-30%) HP:0000670
5 euryblepharon 56 32 frequent (33%) Frequent (79-30%) HP:0012905
6 ectropion of lower eyelids 56 32 hallmark (90%) Very frequent (99-80%) HP:0007651
7 distichiasis 56 32 hallmark (90%) Very frequent (99-80%) HP:0009743
8 abnormality of vision 56 32 frequent (33%) Frequent (79-30%) HP:0000504
9 abnormal hair quantity 56 32 occasional (7.5%) Occasional (29-5%) HP:0011362
10 conductive hearing impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000405
11 bilateral cleft lip and palate 56 32 hallmark (90%) Very frequent (99-80%) HP:0002744
12 conical tooth 56 32 frequent (33%) Frequent (79-30%) HP:0000698
13 clinodactyly 32 HP:0030084
14 hypodontia 32 HP:0000668
15 abnormality of the eye 56 Frequent (79-30%)
16 abnormality of the eyelid 56 Very frequent (99-80%)
17 small nail 32 HP:0001792
18 cleft upper lip 32 HP:0000204
19 epidermoid cyst 56 Occasional (29-5%)
20 epidermal cyst 32 occasional (7.5%) HP:0200040

Drugs & Therapeutics for Blepharocheilodontic Syndrome

Search Clinical Trials , NIH Clinical Center for Blepharocheilodontic Syndrome

Genetic Tests for Blepharocheilodontic Syndrome

Anatomical Context for Blepharocheilodontic Syndrome

MalaCards organs/tissues related to Blepharocheilodontic Syndrome:

39
Eye, Skin, Thyroid

Publications for Blepharocheilodontic Syndrome

Articles related to Blepharocheilodontic Syndrome:

id Title Authors Year
1
Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1. ( 28301459 )
2017
2
Imperforate anus is a rare associated finding in blepharocheilodontic syndrome. ( 20101698 )
2010
3
Preliminary molecular studies on blepharocheilodontic syndrome. ( 17937431 )
2007
4
Blepharocheilodontic syndrome or lagophthalmos: a child with overlapping features. ( 15930907 )
2005
5
Blepharocheilodontic syndrome: surgical management of euryblepharon and nocturnal eyelid eversion. ( 15220581 )
2004

Variations for Blepharocheilodontic Syndrome

Expression for Blepharocheilodontic Syndrome

Search GEO for disease gene expression data for Blepharocheilodontic Syndrome.

Pathways for Blepharocheilodontic Syndrome

GO Terms for Blepharocheilodontic Syndrome

Sources for Blepharocheilodontic Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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