{"Name":"Cleft lip/palate","DiseaseID__c":"GARD:0017092","id":17092,"encodedName":"cleft-lippalate","IsDeleted":false,"Disease_Name_Full__c":"Cleft lip/palate","Xref_IDs__c":"66948001; C0158646; MEDGEN:57640; MONDO:0016044; ORPHA:199306; Q35-Q37","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0016044","Disease_Description__c":"Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate.","GARD_Name__c":"Cleft lip/palate","GARD_Synonym__c":"alveolar cleft lip and palate; cleft lip and palate; cleft lip-alveolus-palate syndrome; cleft palate and lip; cleft palate with cleft lip; flp","Curated_Disease_Description_Source__c":"MONDO:0016044","Curated_Disease_Description__c":"Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:199306","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016044","ORPHANET_ID__c":"ORPHA:199306","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Fisura labiopalatina","Spanish_Description_Source__c":"ORPHA:199306","Spanish_Description__c":"El labio leporino / paladar hendido es una embriopatía de tipo fisura que afecta al labio superior, a la base de la nariz, al reborde alveolar, al paladar óseo y blando.","Spanish_Disease_Name__c":"fisura labiopalatina","Spanish_GARD_Synonym__c":"fisura labio-alveolo-palatina; flp","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":"Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate.","Curated_Disease_Description_Source__c":"MONDO:0016044","GARD_Synonym__c":"alveolar cleft lip and palate; cleft lip and palate; cleft lip-alveolus-palate syndrome; cleft palate and lip; cleft palate with cleft lip; flp","Name":"Cleft lip/palate","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Cleft Palate-Craniofacial Association","Website__c":"http://acpa-cpf.org/"},{"Account_Name__c":"American Cleft Palate Craniofacial Association","Website__c":"https://acpacares.org/"}],"GARD_Disease_Tag__c":[{"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":"Craniofacial Anomalies","Tag_Category__c":"Account","curated_tag_name":"Craniofacial anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:199306"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:199306"}],"External_Identifier_Disease__c":[{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/Q35-Q37","Source__c":"MONDO:0016044","Xref__c":"Q35-Q37"},{"URL__c":"https://www.orpha.net/en/disease/detail/199306","Source__c":"C0158646; MONDO:0016044; ORPHA:199306","Xref__c":"ORPHA:199306"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=66948001","Source__c":"C0158646; MONDO:0016044","Xref__c":"66948001"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0158646","Source__c":"C0158646","Xref__c":"C0158646"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=57640","Source__c":"C0158646","Xref__c":"MEDGEN:57640"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016044","Source__c":"GARD:0017092","Xref__c":"MONDO:0016044"},{"URL__c":"https://www.nidcr.nih.gov/health-info/cleft-lip-palate"},{"URL__c":"https://medlineplus.gov/cleftlipandpalate.html"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DLX4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:199306","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an altered number of of permanent teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011044","HPO_Synonym__c":"Abnormal complement of permanent teeth; Abnormal number of adult teeth; Abnormal number of permanent teeth; Abnormal number of secondary dentition; Abnormal permanent tooth count","HPO_Name__c":"Abnormal number of permanent teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199306","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of tooth eruption.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006292","HPO_Synonym__c":"Abnormal dental eruption; Abnormality of tooth eruption","HPO_Name__c":"Abnormality of dental eruption","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199306","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000403","HPO_Synonym__c":"Frequent otitis media; Multiple episodes of otitis media; Otitis media, recurrent; Recurrent episodes of otitis media; Recurrent middle ear infection; Susceptibility to otitis media","HPO_Name__c":"Recurrent otitis media","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199306","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000220","HPO_Synonym__c":"Velopharyngeal incompetence","HPO_Name__c":"Velopharyngeal insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199306","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A tooth crown with its mesial and distal sides converging or tapering toward the incisal edge causing severe reduction of mesiodistal diameter","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006342","HPO_Synonym__c":"Peg shaped upper lateral incisors","HPO_Name__c":"Peg-shaped maxillary lateral incisors","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199306","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000175","HPO_Synonym__c":"Cleft hard and soft palate; Cleft of hard and soft palate; Cleft of palate; Cleft palate; Cleft roof of mouth; Palatoschisis; Uranostaphyloschisis","HPO_Name__c":"Cleft palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199306","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001611","HPO_Synonym__c":"Hypernasal voice; Nasal speech; Nasal voice","HPO_Name__c":"Hypernasal speech","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199306","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A fistula which connects the oral cavity and the pharyngeal area via the aspects of the soft palate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010294","HPO_Name__c":"Palate fistula","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199306","HPO_Frequency__c":"Occasional (5-29%)","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:199306","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000689","HPO_Synonym__c":"Bad bite; Bilateral crossbite; Bilateral crossbite malocclusion; Incorrect relation between upper and lower dental arches; Malalignment of upper and lower dental arches; Malocclusion; Malocclusion of teeth; Misalignment of upper and lower dental arches; Occlusion anomaly","HPO_Name__c":"Dental malocclusion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199306","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002033","HPO_Synonym__c":"Poor suck; Poor sucking; Sucking weakness","HPO_Name__c":"Poor suck","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199306","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200136","HPO_Synonym__c":"Oral pharyngeal dysphagia; Oropharyngeal dysphagia","HPO_Name__c":"Oral-pharyngeal dysphagia","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199306","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A deficiency in the intake of energy and nutrients.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004395","HPO_Synonym__c":"Malnutrition","HPO_Name__c":"Malnutrition","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199306","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200153","HPO_Synonym__c":"Failure of development of lateral incisor","HPO_Name__c":"Agenesis of lateral incisor","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199306","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impairment in the physical production of speech sounds.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009088","HPO_Name__c":"Speech articulation difficulties","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199306","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000202","HPO_Synonym__c":"Cleft of the mouth; Oral cleft; Oral clefting","HPO_Name__c":"Orofacial cleft","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199306","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A degree of language development that is significantly below the norm for a child of a specified age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000750","HPO_Synonym__c":"Deficiency of speech development; Delayed language development; Delayed speech; Delayed speech acquisition; Delayed speech and language development; Delayed speech development; Impaired speech and language development; Impaired speech development; Language delay; Language delayed; Language development deficit; Late-onset speech development; Poor language development; Speech and language delay; Speech and language difficulties; Speech delay","HPO_Name__c":"Delayed speech and language development","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199306","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000327","HPO_Synonym__c":"Decreased size of maxilla; Decreased size of upper jaw; Hypoplasia of upper jaw bones; Hypoplastic maxillary bones; Maxillary deficiency; Maxillary hypoplasia; Maxillary micrognathia; Maxillary retrognathia; Maxillary retrusion; Micromaxilla; Small maxilla; Small upper jaw; Small upper jaw bones; Upper jaw deficiency; Upper jaw retrusion","HPO_Name__c":"Hypoplasia of the maxilla","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199306","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008872","HPO_Name__c":"Feeding difficulties in infancy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199306","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Nonmidline cleft palate on the left and right sides.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100337","HPO_Synonym__c":"Bilateral palatoschisis; Right and left cleft palate","HPO_Name__c":"Bilateral cleft palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199306","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100334","HPO_Synonym__c":"One sided cleft palate; Unilateral palatoschisis","HPO_Name__c":"Unilateral cleft palate","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Congenital Abnormality"],"Specialist":["Otolaryngology","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["alveolar cleft lip and palate"," cleft lip and palate"," cleft lip-alveolus-palate syndrome"," cleft palate and lip"," cleft palate with cleft lip"," flp"]}