{"Name":"Hypertelorism, microtia, facial clefting syndrome","DiseaseID__c":"GARD:0000897","id":897,"encodedName":"hypertelorism-microtia-facial-clefting-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Hypertelorism, microtia, facial clefting syndrome","Xref_IDs__c":"721836009; C0220742; C537632; DOID:14670; MEDGEN:113104; MONDO:0009404; OMIM:239800; ORPHA:2213","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009404","Disease_Description__c":"Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia.","GARD_Name__c":"Hypertelorism, microtia, facial clefting syndrome","GARD_Synonym__c":"bixler christian gorlin syndrome; bixler syndrome; bixler-christian-gorlin syndrome; hmc (hypertelorism, microtia, clefting) syndrome; hmc syndrome; hypertelorism with microtia and facial clefting syndrome; hypertelorism-microtia-clefting syndrome; hypertelorism-microtia-facial clefting syndrome","Curated_Disease_Description_Source__c":"MONDO:0009404","Curated_Disease_Description__c":"Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:2213","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009404","ORPHANET_ID__c":"ORPHA:2213","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome hipertelorismo-microtia-hendidura facial","Spanish_Description_Source__c":"ORPHA:2213","Spanish_Description__c":"El síndrome hipertelorismo - microtia - hendidura facial, o síndrome HMC, es un síndrome muy raro caracterizado por la combinación de hipertelorismo, fisura labiopalatina y microtia.","Spanish_Disease_Name__c":"síndrome hipertelorismo-microtia-hendidura facial","Spanish_GARD_Synonym__c":null,"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":"Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia.","Curated_Disease_Description_Source__c":"MONDO:0009404","GARD_Synonym__c":"bixler christian gorlin syndrome; bixler syndrome; bixler-christian-gorlin syndrome; hmc (hypertelorism, microtia, clefting) syndrome; hmc syndrome; hypertelorism with microtia and facial clefting syndrome; hypertelorism-microtia-clefting syndrome; hypertelorism-microtia-facial clefting syndrome","Name":"Hypertelorism, microtia, facial clefting syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological 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":"Craniofacial Anomalies","Tag_Category__c":"Account","curated_tag_name":"Craniofacial anomalies"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2213"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:2213"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0220742","Source__c":"C0220742","Xref__c":"C0220742"},{"URL__c":"https://www.orpha.net/en/disease/detail/2213","Source__c":"C0220742; MONDO:0009404; ORPHA:2213","Xref__c":"ORPHA:2213"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537632","Source__c":"MONDO:0009404","Xref__c":"C537632"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A14670","Source__c":"MONDO:0009404","Xref__c":"DOID:14670"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=113104","Source__c":"C0220742","Xref__c":"MEDGEN:113104"},{"URL__c":"https://www.omim.org/entry/239800","Source__c":"C0220742; MONDO:0009404; ORPHA:2213","Xref__c":"OMIM:239800"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=721836009","Source__c":"C0220742; MONDO:0009404","Xref__c":"721836009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009404","Source__c":"GARD:0000897","Xref__c":"MONDO:0009404"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2213","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003393","HPO_Synonym__c":"Thenar atrophy","HPO_Name__c":"Thenar muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2213","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000456","HPO_Synonym__c":"Bifid tip of nose; Cleft nasal tip","HPO_Name__c":"Bifid nasal tip","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2213","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2213","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003510","HPO_Synonym__c":"Dwarfism; Proportionate dwarfism; Severe short stature; Short stature, extreme; Short stature, severe","HPO_Name__c":"Severe short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2213","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Cleft palate of the midline of the palate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009099","HPO_Synonym__c":"Central cleft palate; Midline cleft palate","HPO_Name__c":"Median cleft palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2213","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000085","HPO_Synonym__c":"Horseshoe kidney; Horseshoe kidneys","HPO_Name__c":"Horseshoe kidney","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2213","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the external ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008551","HPO_Synonym__c":"Bilateral microtia; Hypoplasia of the external ear; Hypoplastic ears; Hypoplastic pinna; Small ears; Small pinnae; Underdeveloped ears","HPO_Name__c":"Microtia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2213","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2213","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004736","HPO_Synonym__c":"Crossed-fused renal ectopia; Ectopic kidney with fusion","HPO_Name__c":"Crossed fused renal ectopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2213","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001328","HPO_Name__c":"Specific learning disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2213","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011803","HPO_Synonym__c":"Bifid nasal bridge; Indentation or clefting of the nose","HPO_Name__c":"Bifid nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2213","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:2213","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence or failure to form of the external auditory canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000413","HPO_Synonym__c":"Absent auditory canals; Absent ear canal; Absent external auditory canals; Atretic auditory canal; Atretic auditory canals; Atretic external auditory canal; Atretic external auditory canals; Auditory canal atresia; External acoustic meatus atresia; External auditory canal atresia; External auditory meatal atresia; External auditory meatus atresia","HPO_Name__c":"Atresia of the external auditory canal","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2213","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2213","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Otolaryngology","Neurodevelopmental disabilities","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["bixler christian gorlin syndrome"," bixler syndrome"," bixler-christian-gorlin syndrome"," hmc (hypertelorism, microtia, clefting) syndrome"," hmc syndrome"," hypertelorism with microtia and facial clefting syndrome"," hypertelorism-microtia-clefting syndrome"," hypertelorism-microtia-facial clefting syndrome"]}