{"Name":"Blepharocheilodontic syndrome","DiseaseID__c":"GARD:0002071","id":2071,"encodedName":"blepharocheilodontic-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Blepharocheilodontic syndrome","Xref_IDs__c":"717911008; C1861536; C536188; DOID:0080344; MEDGEN:349302; MONDO:0007339; OMIMPS:119580; ORPHA:1997","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":6,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007339","Disease_Description__c":"A rare ectodermal dysplasia syndrome characterized by the association of lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth.","GARD_Name__c":"Blepharocheilodontic syndrome","GARD_Synonym__c":"bcd syndrome; blepharo-cheilo-odontic syndrome; clefting-ectropion-conical teeth syndrome; clefting, ectropion, and conical teeth; clefting, ectropion, conical teeth syndrome; ectropion inferior-cleft lip and or palate syndrome; ectropion inferior-cleft lip and/or palate syndrome; ectropion, inferior, with cleft lip and/or palate; elsching syndrome; elschnig syndrome; lagophthalmia with bilateral cleft lip and palate; lagophthalmia-cleft lip and palate syndrome","Curated_Disease_Description_Source__c":"MEDGEN:C1861536","Curated_Disease_Description__c":"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.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1997","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0007339","ORPHANET_ID__c":"ORPHA:1997","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome bléfaro-queilo-odóntico","Spanish_Description_Source__c":"ORPHA:1997","Spanish_Description__c":"Es un síndrome de displasia ectodérmica poco frecuente caracterizado por la asociación de ectropión del párpado inferior, distiquiasis del párpado superior, euriblefaron (Parpados amplios con zona lateral inferior evertida), labio leporino y paladar hendido bilateral y dientes cónicos.","Spanish_Disease_Name__c":"síndrome bléfaro-queilo-odóntico","Spanish_GARD_Synonym__c":"síndrome blefaroqueiloodóntico; síndrome de ectropión inferior-labio leporino y/o paladar hendido; síndrome de elsching; síndrome de hendidura-ectropión-dientes cónicos; síndrome de lagoftalmia-labio leporino y paladar hendido","Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"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.","Curated_Disease_Description_Source__c":"MEDGEN:C1861536","GARD_Synonym__c":"bcd syndrome; blepharo-cheilo-odontic syndrome; clefting-ectropion-conical teeth syndrome; clefting, ectropion, and conical teeth; clefting, ectropion, conical teeth syndrome; ectropion inferior-cleft lip and or palate syndrome; ectropion inferior-cleft lip and/or palate syndrome; ectropion, inferior, with cleft lip and/or palate; elsching syndrome; elschnig syndrome; lagophthalmia with bilateral cleft lip and palate; lagophthalmia-cleft lip and palate syndrome","Name":"Blepharocheilodontic syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Foundation for Ectodermal Dysplasias","Website__c":"https://www.nfed.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Odontology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Craniofacial Anomalies","Tag_Category__c":"Account","curated_tag_name":"Craniofacial anomalies"},{"Tag_Name__c":"Ectodermal dysplasia","Tag_Category__c":"Account","curated_tag_name":"Ectodermal dysplasias"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1997"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1861536"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002071","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717911008","Source__c":"C1861536; MONDO:0007339","Xref__c":"717911008"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536188","Source__c":"MONDO:0007339","Xref__c":"C536188"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080344","Source__c":"MONDO:0007339","Xref__c":"DOID:0080344"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS119580","Source__c":"MONDO:0007339","Xref__c":"OMIMPS:119580"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=349302","Source__c":"C1861536","Xref__c":"MEDGEN:349302"},{"URL__c":"https://www.orpha.net/en/disease/detail/1997","Source__c":"C1861536; MONDO:0007339; ORPHA:1997","Xref__c":"ORPHA:1997"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1861536","Source__c":"C1861536","Xref__c":"C1861536"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007339","Source__c":"GARD:0002071","Xref__c":"MONDO:0007339"},{"URL__c":"https://medlineplus.gov/genetics/condition/blepharocheilodontic-syndrome","Source__c":"GARD:0002071","Xref__c":"https://medlineplus.gov/genetics/condition/blepharocheilodontic-syndrome"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CTNND1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ctnnd1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CDH1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cdh1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1997","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Euryblepharon is a congenital eyelid anomaly characterized by horizontal enlargement of the palpebral fissure. The eyelid is shortened vertically compared with the horizontal dimension, with associated lateral canthal malpositioning and lateral ectropion abnormally wide lid opening.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012905","HPO_Name__c":"Euryblepharon","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1997","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000405","HPO_Synonym__c":"Conduction deafness; Conductive deafness; Conductive hearing loss; Hearing loss, conductive","HPO_Name__c":"Conductive hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1997","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Epidermal cysts are intradermal or subcutaneous tumors, grow slowly and occur on the face, neck, back and scrotum. They usually appear at or around puberty, and as a rule an affected individual has one solitary or a few cysts. A central, dark comedone opening (punctum) may be present.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200040","HPO_Synonym__c":"Epidermal cyst; Epidermal inclusion cyst; Infundibular cyst; Keratin cyst","HPO_Name__c":"Epidermoid cyst","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1997","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as \\\"bony\\\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as \\\"Symphalangism\\\".","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006101","HPO_Synonym__c":"Partial syndactyly","HPO_Name__c":"Finger syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1997","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000670","HPO_Synonym__c":"Caries; Cariosity of teeth; Dental caries; Dental cavities; Early dental caries; Frequent caries; Tooth cavities; Tooth decay","HPO_Name__c":"Carious teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1997","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of the eye, including location, spacing, and intraocular abnormalities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000478","HPO_Synonym__c":"Abnormal eye; Abnormality of the eye","HPO_Name__c":"Abnormality of the eye","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1997","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000316","HPO_Synonym__c":"Excessive orbital separation; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance","HPO_Name__c":"Hypertelorism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1997","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002023","HPO_Synonym__c":"Absent anus","HPO_Name__c":"Anal atresia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1997","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000698","HPO_Synonym__c":"Cone shaped tooth; Conoid tooth; Peg shaped teeth; Peg tooth; Peg-shaped teeth; Shark tooth","HPO_Name__c":"Conical tooth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1997","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Double rows of eyelashes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009743","HPO_Synonym__c":"Distichiasis of eyelid eyelashes","HPO_Name__c":"Distichiasis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1997","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormality of eyesight (visual perception).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000504","HPO_Synonym__c":"Abnormality of sight; Abnormality of vision; Vision issue","HPO_Name__c":"Abnormality of vision","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1997","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the eyelids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000492","HPO_Synonym__c":"Abnormality of the eyelid; Abnormality of the eyelids","HPO_Name__c":"Abnormal eyelid morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1997","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal amount of hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011362","HPO_Synonym__c":"Abnormal hair quantity; Abnormality of hair density","HPO_Name__c":"Abnormal hair quantity","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1997","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007651","HPO_Synonym__c":"Lower eyelid turned out","HPO_Name__c":"Ectropion of lower eyelids","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Dermatology","Otolaryngology","Odontology","Pediatrics"],"Account":["Dermatology","Craniofacial Anomalies","Ectodermal dysplasia"]},"synonyms":["bcd syndrome"," blepharo-cheilo-odontic syndrome"," clefting-ectropion-conical teeth syndrome"," clefting, ectropion, and conical teeth"," clefting, ectropion, conical teeth syndrome"," ectropion inferior-cleft lip and or palate syndrome"," ectropion inferior-cleft lip and/or palate syndrome"," ectropion, inferior, with cleft lip and/or palate"," elsching syndrome"," elschnig syndrome"," lagophthalmia with bilateral cleft lip and palate"," lagophthalmia-cleft lip and palate syndrome"]}