{"Name":"Auriculocondylar syndrome","DiseaseID__c":"GARD:0009798","id":9798,"encodedName":"auriculocondylar-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Auriculocondylar syndrome","Xref_IDs__c":"702443003; C1865295; C538270; MEDGEN:355953; MONDO:0000107; OMIMPS:602483; ORPHA:137888","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0000107","Disease_Description__c":"A rare, genetic dysostosis with predominant craniofacial involvement characterized by bilateral external ear malformations, mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, full cheeks, developmental delay, hearing impairment and respiratory distress. Significant intra- and interfamilial phenotypic variation has been reported.","GARD_Name__c":"Auriculocondylar syndrome","GARD_Synonym__c":"auriculo-condylar syndrome; dysgnathia complex; question mark ear syndrome; question mark ears syndrome; question-mark ear syndrome","Curated_Disease_Description_Source__c":"MONDO:0000107","Curated_Disease_Description__c":"Auriculocondylar syndrome is a condition that affects facial development, particularly the development of the ears and lower jaw (mandible). The features seen in people with this condition can vary, even among members of the same family.  A hallmark of this condition is an ear abnormality called a question mark ear, in which the ears have a distinctive question mark shape that is caused by a split that separates the upper part of the ear from the earlobe. Other ear abnormalities that can occur in people with auriculocondylar syndrome include cupped ears, ears with fewer folds and grooves than usual, narrow ear canals, small skin tags in front of or behind the ears, and ears that are rotated backward. Some affected individuals also have hearing loss. Affected individuals often have a small lower jaw (micrognathia), which is caused by the underdevelopment of the upper portion of the mandible (condyle). These abnormalities can impair the function of the temporomandibular joint (TMJ), which connects the lower jaw to the skull. Problems with the TMJ affect how the upper and lower jaws fit together and can make it difficult to open and close the mouth. Because micrognathia often causes problems with breathing, many infants with auriculocondylar syndrome will need a breathing tube. Other features of auriculocondylar syndrome can include prominent cheeks, an unusually small mouth (microstomia), a tongue that is placed further back in the mouth than normal (glossoptosis), differences in the size and shape of facial features between the right and left sides of the face (facial asymmetry), and an opening in the roof of the mouth (cleft palate). In rare cases, people with auriculocondylar syndrome have developmental delays and intellectual disabilities.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:137888","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0000107","ORPHANET_ID__c":"ORPHA:137888","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome aurículo-condilar","Spanish_Description_Source__c":"ORPHA:137888","Spanish_Description__c":"Es una disostosis genética poco frecuente con afectación craneofacial predominante que se caracteriza por malformaciones bilaterales del oído externo, hipoplasia del cóndilo mandibular, microstomía, micrognatia, microglosia y asimetría facial. Otras manifestaciones adicionales incluyen hipotonía, ptosis, paladar hendido, mejillas llenas, retraso psicomotor, discapacidad auditiva y dificultad respiratoria. Se ha informado de una variación fenotípica intra- e interfamiliar significativa.","Spanish_Disease_Name__c":"síndrome aurículo-condilar","Spanish_GARD_Synonym__c":"síndrome de la oreja en punto de interrogación; síndrome de orejas en signo de interrogación","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":"Auriculocondylar syndrome is a condition that affects facial development, particularly the development of the ears and lower jaw (mandible). The features seen in people with this condition can vary, even among members of the same family.  A hallmark of this condition is an ear abnormality called a question mark ear, in which the ears have a distinctive question mark shape that is caused by a split that separates the upper part of the ear from the earlobe. Other ear abnormalities that can occur in people with auriculocondylar syndrome include cupped ears, ears with fewer folds and grooves than usual, narrow ear canals, small skin tags in front of or behind the ears, and ears that are rotated backward. Some affected individuals also have hearing loss. Affected individuals often have a small lower jaw (micrognathia), which is caused by the underdevelopment of the upper portion of the mandible (condyle). These abnormalities can impair the function of the temporomandibular joint (TMJ), which connects the lower jaw to the skull. Problems with the TMJ affect how the upper and lower jaws fit together and can make it difficult to open and close the mouth. Because micrognathia often causes problems with breathing, many infants with auriculocondylar syndrome will need a breathing tube. Other features of auriculocondylar syndrome can include prominent cheeks, an unusually small mouth (microstomia), a tongue that is placed further back in the mouth than normal (glossoptosis), differences in the size and shape of facial features between the right and left sides of the face (facial asymmetry), and an opening in the roof of the mouth (cleft palate). In rare cases, people with auriculocondylar syndrome have developmental delays and intellectual disabilities.","Curated_Disease_Description_Source__c":"MONDO:0000107","GARD_Synonym__c":"auriculo-condylar syndrome; dysgnathia complex; question mark ear syndrome; question mark ears syndrome; question-mark ear syndrome","Name":"Auriculocondylar syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Cleft Palate Craniofacial Association","Website__c":"https://acpacares.org/"},{"Account_Name__c":"Children's Craniofacial Association","Website__c":"https://ccakids.org/"},{"Account_Name__c":"World Craniofacial Foundation","Website__c":"https://www.worldcf.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":"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":"Orthopedics","Tag_Category__c":"Specialist"},{"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:137888"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:137888"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1865295"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009798","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS602483","Source__c":"MONDO:0000107","Xref__c":"OMIMPS:602483"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538270","Source__c":"MONDO:0000107","Xref__c":"C538270"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=702443003","Source__c":"C1865295; MONDO:0000107","Xref__c":"702443003"},{"URL__c":"https://www.orpha.net/en/disease/detail/137888","Source__c":"C1865295; MONDO:0000107; ORPHA:137888","Xref__c":"ORPHA:137888"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=355953","Source__c":"C1865295","Xref__c":"MEDGEN:355953"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1865295","Source__c":"C1865295","Xref__c":"C1865295"},{"URL__c":"https://medlineplus.gov/genetics/condition/auriculo-condylar-syndrome","Source__c":"GARD:0009798","Xref__c":"https://medlineplus.gov/genetics/condition/auriculo-condylar-syndrome"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0000107","Source__c":"GARD:0009798","Xref__c":"MONDO:0000107"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"EDN1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/edn1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PLCB4","GHR_URL__c":"https://medlineplus.gov/genetics/gene/plcb4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GNAI3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gnai3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:137888","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Cleft between the helix and the lobe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030022","HPO_Synonym__c":"Constricted ear; Cosman ear; Question mark ear; Question mark ears","HPO_Name__c":"Question mark ear","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137888","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced strength of the tongue musculature, resulting in difficulties moving the tongue and possible accompanied by dysarthria or dysphagia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000183","HPO_Name__c":"Tongue muscle weakness","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137888","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000347","HPO_Synonym__c":"Decreased size of lower jaw; Decreased size of mandible; Hypoplasia of lower jaw; Hypoplasia of mandible; Hypoplastic mandible; Hypoplastic mandible condyle; Hypotrophic lower jaw; Hypotrophic mandible; Little lower jaw; Little mandible; Lower jaw deficiency; Lower jaw hypoplasia; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; Micrognathia of lower jaw; Micromandible; Robin mandible; Severe hypoplasia of mandible; Small jaw; Small lower jaw; Small mandible; Underdevelopment of lower jaw; Underdevelopment of mandible","HPO_Name__c":"Micrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137888","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000256","HPO_Synonym__c":"Increased size of cranium; Increased size of skull; Large head; Large head circumference; Macrocephalus; Macrocrania; Megacephaly","HPO_Name__c":"Macrocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137888","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of aplasia or developmental hypoplasia of all or part of the external ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008772","HPO_Synonym__c":"Absent/small external ear; Absent/underdeveloped external ear","HPO_Name__c":"Aplasia/Hypoplasia of the external ear","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137888","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000508","HPO_Synonym__c":"Blepharoptosis; Drooping upper eyelid; Eyelid ptosis; Palpebral ptosis","HPO_Name__c":"Ptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137888","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:137888","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000384","HPO_Synonym__c":"Ear tag; Periauricular skin tag; Preauricular acrochordon; Preauricular fibroepithelial polyp; Preauricular skin tags; Preauricular tag; Preauricular tags","HPO_Name__c":"Preauricular skin tag","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137888","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000162","HPO_Synonym__c":"Lingual retraction; Retraction of the tongue","HPO_Name__c":"Glossoptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137888","HPO_Frequency__c":"Occasional (5-29%)","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:137888","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Generalized muscular hypotonia (abnormally low muscle tone).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001290","HPO_Synonym__c":"Generalized decreased muscle tone; Generalized muscular hypotonia; Hypotonia, generalized","HPO_Name__c":"Generalized hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137888","HPO_Frequency__c":"Frequent (30-79%)","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:137888","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Deep, noisy breathing during sleep, accompanied by hoarse or harsh sounds, is caused by the vibration of respiratory structures, especially the soft palate. This vibration results in sound due to obstructed air movement during breathing while sleeping.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025267","HPO_Synonym__c":"Snore; Snores; Snoring symptoms","HPO_Name__c":"Snoring","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137888","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007628","HPO_Synonym__c":"Decreased size of condylar process of mandible; Decreased size of mandibular condyle; Hypoplasia of condylar process of mandible; Hypoplasia of mandibular condyle; Hypoplasia of subcondylar region of mandible; Small mandibular condyle","HPO_Name__c":"Mandibular condyle hypoplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137888","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Obstructive Sleep Apnea is a condition characterized by the obstruction of the airway and pauses in breathing during sleep, which occur multiple times throughout the night. It is related to the relaxation of muscle tone that typically happens during sleep, leading to a partial collapse of the soft tissues in the airway and causing airflow obstruction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002870","HPO_Name__c":"Obstructive sleep apnea","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137888","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of the temporomandibular joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010754","HPO_Synonym__c":"Abnormality of the jaw joint; Anomaly of the temporomandibular joint; Deformity of the jaw joint; Malformation of jaw joint","HPO_Name__c":"Abnormality of the temporomandibular joint","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137888","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Changes in alignment of teeth in the dental arch","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000678","HPO_Synonym__c":"Crowded teeth; Dental crowding; Dental overcrowding; Overcrowding of teeth","HPO_Name__c":"Dental crowding","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137888","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000160","HPO_Synonym__c":"Microstomia; Narrow mouth; Small mouth; Small oral aperture","HPO_Name__c":"Narrow mouth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137888","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal difference between the left and right sides of the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000324","HPO_Synonym__c":"Asymmetric facies; Asymmetry of face; Asymmetry of right and left side of face; Crooked face; Facial asymmetry; Unsymmetrical face","HPO_Name__c":"Facial asymmetry","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137888","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002098","HPO_Synonym__c":"Breathing difficulties; Labored breathing; Respiratory difficulties","HPO_Name__c":"Respiratory distress","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137888","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137888","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A notched form of the helix of the ear. That is, a defect in the continuity of the helix, which may occur at any point along its length.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009902","HPO_Synonym__c":"Notched helix; Notching of the ear helix","HPO_Name__c":"Cleft helix","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137888","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011968","HPO_Synonym__c":"Decreased oral intake; Feeding difficulties; Feeding problems; Poor feeding","HPO_Name__c":"Feeding difficulties","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137888","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011802","HPO_Synonym__c":"Lingual hamartoma","HPO_Name__c":"Hamartoma of tongue","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137888","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007627","HPO_Synonym__c":"Underdevelopment of condylar process of mandible","HPO_Name__c":"Mandibular condyle aplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137888","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased prominence or roundness of soft tissues between zygomata and mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000293","HPO_Synonym__c":"Apple cheeks; Big cheeks; Full cheeks; Increased size of cheeks; Large cheeks","HPO_Name__c":"Full cheeks","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137888","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000358","HPO_Synonym__c":"Ear, posterior angulation, increased; Ears rotated toward back of head; Posteriorly angulated ears; Posteriorly rotated; Posteriorly rotated auricles; Posteriorly-angulated ears; Posteriorly-rotated ears","HPO_Name__c":"Posteriorly rotated ears","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137888","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Uvula separated into two parts most easily seen at the tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000193","HPO_Synonym__c":"Bifid palatine uvula; Cleft of uvula; Cleft uvula; Forked uvula; Split uvula; Uvula bifida","HPO_Name__c":"Bifid uvula","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137888","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Decreased length and width of the tongue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000171","HPO_Synonym__c":"Decreased size of tongue; Hypoglossia; Hypoplasia of the tongue; Hypoplastic tongue; Lingual hypoplasia; Rudimentary tongue; Small tongue; Underdevelopment of the tongue; Abnormally small tongue","HPO_Name__c":"Microglossia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137888","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Vein of Galen aneurysmal malformation is a choroidal type of arteriovenous malformation that develops between 6 and 11 weeks of gestation. It results from 1 or more arteriovenous fistulas shunting blood toward the prosencephalic vein of Markowski, the embryonic precursor of the vein of Galen. This abnormal shunt leads to progressive dilation of the vein and prevents its involution and subsequent development into the vein of Galen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030713","HPO_Synonym__c":"Median prosencephalic arteriovenous fistula; Vein of Galen aneurysm; Vein of Galen malformation","HPO_Name__c":"Vein of Galen aneurysmal malformation","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137888","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Benign congenital lesions of the periauricular soft tissue consisting of a blind-ending narrow tube or pit.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100277","HPO_Synonym__c":"Periauricular earpits; Periauricular fistulas; Periauricular pits; Periauricular sinus; Pits around the ear","HPO_Name__c":"Periauricular skin pits","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137888","Feature__r":{"HPO_Description__c":"An abnormality of the pinna, which is also referred to as the auricle or external ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000377","HPO_Synonym__c":"Abnormal form of ears; Abnormally shaped ears; Auricular malformation; Deformed auricles; Deformed ears; Dysplastic ears; Malformation of auricle; Malformed auricles; Malformed ears; Malformed external ears; Minor malformation of the auricles; Poorly defined conchae","HPO_Name__c":"Abnormal pinna morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:137888","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the crus of the helix, which is the horizontal piece of cartilage located outside the ear canal that divides the upper and lower parts of the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009895","HPO_Synonym__c":"Abnormality of the crus of the ear","HPO_Name__c":"Abnormality of the crus of the helix","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Otolaryngology","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["auriculo-condylar syndrome"," dysgnathia complex"," question mark ear syndrome"," question mark ears syndrome"," question-mark ear syndrome"]}