{"Name":"Craniometaphyseal dysplasia, autosomal dominant","DiseaseID__c":"GARD:0001581","id":1581,"encodedName":"craniometaphyseal-dysplasia-autosomal-dominant","IsDeleted":false,"Disease_Name_Full__c":"Craniometaphyseal dysplasia, autosomal dominant","Xref_IDs__c":"C1852502; C565145; DOID:0080801; MEDGEN:338945; MONDO:0007397; NBK1461; OMIM:123000","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"GARD:0001581","Disease_Description__c":"Autosomal dominant craniometaphyseal dysplasia is a genetic skeletal condition characterized by progressive thickening of bones in the skull (cranium) and abnormalities at the ends of long bones in the limbs (metaphyseal dysplasia). The overgrowth of bones in the head can lead to distinctive facial features and delayed tooth eruption, as well as compression of the cranial nerves. The condition is caused by genetic changes in the ANKH gene. As the name suggests, it is inherited in an autosomal dominant manner.","GARD_Name__c":"Craniometaphyseal dysplasia, autosomal dominant","GARD_Synonym__c":"cmdd","Curated_Disease_Description_Source__c":"GARD:0001581","Curated_Disease_Description__c":"Autosomal dominant craniometaphyseal dysplasia (AD-CMD) is characterized by progressive diffuse hyperostosis of cranial bones evident clinically as wide nasal bridge, fullness of the paranasal tissue, hypertelorism with an increase in bizygomatic width, and prominent mandible. Development of dentition may be delayed and teeth may fail to erupt as a result of hyperostosis and sclerosis of alveolar bone. Progressive thickening of craniofacial bones continues throughout life, often resulting in narrowing of the cranial foramina, including the foramen magnum. If untreated, compression of cranial nerves can lead to disabling conditions such as facial palsy, blindness, or deafness (conductive and/or sensorineural). In individuals with typical uncomplicated AD-CMD life expectancy is normal; in those with severe AD-CMD life expectancy can be reduced as a result of compression of the foramen magnum.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:123000","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007397","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Autosomal dominant craniometaphyseal dysplasia (AD-CMD) is characterized by progressive diffuse hyperostosis of cranial bones evident clinically as wide nasal bridge, fullness of the paranasal tissue, hypertelorism with an increase in bizygomatic width, and prominent mandible. Development of dentition may be delayed and teeth may fail to erupt as a result of hyperostosis and sclerosis of alveolar bone. Progressive thickening of craniofacial bones continues throughout life, often resulting in narrowing of the cranial foramina, including the foramen magnum. If untreated, compression of cranial nerves can lead to disabling conditions such as facial palsy, blindness, or deafness (conductive and/or sensorineural). In individuals with typical uncomplicated AD-CMD life expectancy is normal; in those with severe AD-CMD life expectancy can be reduced as a result of compression of the foramen magnum.","Curated_Disease_Description_Source__c":"GARD:0001581","GARD_Synonym__c":"cmdd","Name":"Craniometaphyseal dysplasia, autosomal dominant","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Children's Craniofacial Association","Website__c":"https://ccakids.org/"},{"Account_Name__c":"European Reference Network on Bone Disorders","Website__c":"https://ernbond.eu/"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1852502"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001581","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1461","Source__c":"Gene Review","Xref__c":"NBK1461"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1852502","Source__c":"C1852502","Xref__c":"C1852502"},{"URL__c":"https://www.omim.org/entry/123000","Source__c":"C1852502; MONDO:0007397","Xref__c":"OMIM:123000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565145","Source__c":"MONDO:0007397","Xref__c":"C565145"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080801","Source__c":"MONDO:0007397","Xref__c":"DOID:0080801"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=338945","Source__c":"C1852502","Xref__c":"MEDGEN:338945"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007397","Source__c":"GARD:0001581","Xref__c":"MONDO:0007397"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ANKH","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ankh","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:123000","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:123000","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:123000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000276","HPO_Synonym__c":"Elongation of face; Increased height of face; Increased length of face; Increased vertical dimension of face; Long face; Long facies; Vertical elongation of face; Vertical enlargement of face; Vertical excess of face; Vertical Facial Excess; Vertical hyperplasia of face; Vertical overgrowth of face","HPO_Name__c":"Long face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:123000","Feature__r":{"HPO_Description__c":"An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006384","HPO_Synonym__c":"Club-shaped distal femora; Club-shaped outermost end of thighbone","HPO_Name__c":"Club-shaped distal femur","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:123000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal thinning of the cortical region of bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002753","HPO_Synonym__c":"Thin cortices","HPO_Name__c":"Thin bony cortex","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:123000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An elevated level of osteocalcin in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031428","HPO_Name__c":"Increased circulating osteocalcin level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:123000","Feature__r":{"HPO_Description__c":"An increase in bone density affecting the calvaria (roof of the skull).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005450","HPO_Name__c":"Calvarial osteosclerosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:123000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Delayed tooth eruption affecting the primary dentition.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000680","HPO_Synonym__c":"Delayed eruption of baby teeth; Delayed eruption of deciduous teeth; Delayed eruption of milk teeth; Delayed primary teeth eruption; Late eruption of baby teeth; Late eruption of milk teeth; Late eruption of primary teeth","HPO_Name__c":"Delayed eruption of primary teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:123000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010628","HPO_Synonym__c":"Bell's palsy; Cranial nerve VII palsy; Facial nerve palsy; Facial nerve paralysis; Facial palsy, unilateral or bilateral; Seventh cranial nerve palsy; VII th cranial nerve palsy","HPO_Name__c":"Facial palsy","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:123000","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A form of strabismus with one or both eyes deviated outward.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000577","HPO_Synonym__c":"Outward facing eye ball","HPO_Name__c":"Exotropia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:123000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003015","HPO_Synonym__c":"Flared wide portion of long bone; Flared, widened metaphyses; marked metaphyseal flaring of long bones; Metaphyseal flaring; Metaphyseal flaring of long bones; Metaphyseal splaying; Metaphyses flared; Splayed metaphyses","HPO_Name__c":"Flared metaphysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:123000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002007","HPO_Synonym__c":"Frontal protuberance; Skull bossing","HPO_Name__c":"Frontal bossing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:123000","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:123000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased serum levels of alkaline phosphatase activity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003155","HPO_Synonym__c":"Elevated alkaline phosphatase; Elevated ALP; Greatly elevated alkaline phosphatase; High serum alkaline phosphatase; Hyperphosphatasemia; Hyperphosphatasia; Increased alkaline phosphatase; Increased serum alkaline phosphatase","HPO_Name__c":"Elevated circulating alkaline phosphatase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:123000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000360","HPO_Synonym__c":"Ringing in ears; Ringing in the ears","HPO_Name__c":"Tinnitus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:123000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000369","HPO_Synonym__c":"Low set ears; Low-set ears; Low-set pinnae; Lowset ears; Melotia","HPO_Name__c":"Low-set ears","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:123000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of an abnormally thick calvaria.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002684","HPO_Synonym__c":"Calvarial thickening; Calvarium thickened; Increased calvarial thickness; Increased thickness of calvaria; Increased thickness of calvarium; Increased thickness of cranial vault; Increased thickness of skull cap; Thick calvaria; Thick calvarium; Thickened calvarium; Thickened cranial vault; Thickened cranium; Thickened skull cap; Thickening of the calvaria","HPO_Name__c":"Thickened calvaria","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:123000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A deficit in the ability to fixate eye movements in order to stabilize images on the retina","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025405","HPO_Synonym__c":"Instability of ocular fixation","HPO_Name__c":"Visual fixation instability","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:123000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004407","HPO_Name__c":"Bony paranasal bossing","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:123000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased breadth of the nasal bridge (and with it, the nasal root).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000431","HPO_Synonym__c":"Broad nasal bridge; Broad nasal root; Broadened nasal bridge; Increased breadth of bridge of nose; Increased breadth of nasal bridge; Increased width of bridge of nose; Increased width of nasal bridge; Nasal bridge broad; Nasal bridge, wide; Wide bridge of nose; Wide nasal bridge; Widened nasal bridge","HPO_Name__c":"Wide nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:123000","Feature__r":{"HPO_Description__c":"Flaring of distal femur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004975","HPO_Synonym__c":"Erlenmeyer flask deformity of distal femur; Erlenmeyer flask femora; Erlenmeyer flask shaped thighbone","HPO_Name__c":"Erlenmeyer flask deformity of the femurs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:123000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduction in diameter of the internal auditory canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011386","HPO_Name__c":"Narrow internal auditory canal","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:123000","Feature__r":{"HPO_Description__c":"Reduced ability to pass air through the nasal cavity often leading to mouth breathing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001742","HPO_Synonym__c":"Blockage of nose; Nasal blockage; Nasal obstruction; Obstruction of nose; Stuffy nose","HPO_Name__c":"Nasal congestion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:123000","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally decreased phosphate concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002148","HPO_Synonym__c":"Hypophosphataemia; Low blood phosphate level","HPO_Name__c":"Hypophosphatemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:123000","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":"OMIM:123000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Anterior positioning of the nasal root in comparison to the usual positioning for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000426","HPO_Synonym__c":"Elevated nasal bridge; High nasal bridge; Prominent bridge of nose; Prominent nasal bridge; Prominent nasal root; Protruding bridge of nose; Protruding nasal bridge","HPO_Name__c":"Prominent nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:123000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Large or prominent malar surface of the zygomatic bone of the skull, which is convex and forms the prominence of the 'cheek bones'.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012370","HPO_Synonym__c":"Cheekbone prominence; Malar hypertrophy; Prominence of cheekbone; Pronounced cheekbone","HPO_Name__c":"Prominence of the zygomatic bone","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:123000","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally increased calcium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003072","HPO_Synonym__c":"High blood calcium levels; Hypercalcaemia; Increased calcium in blood","HPO_Name__c":"Hypercalcemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:123000","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal prominence of the chin related to increased length of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000303","HPO_Synonym__c":"Big lower jaw; Big mandible; Enlarged mandible; Enlargement of mandible; Hyperplasia of lower jaw; Increased projection of lower jaw; Increased projection of mandible; Increased size of lower jaw; Large lower jaw; Large mandible; Lower jaw excess; Lower jaw hyperplasia; Macromandible; Mandible prognathism; Mandibular excess; Mandibular hyperplasia; Mandibular macrognathia; Mandibular prognathism; Prognathia; Prognathism; Prominent chin; Prominent jaw; Prominent lower jaw; Prominent mandible; Relative mandibular prognathism","HPO_Name__c":"Mandibular prognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:123000","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:123000","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:123000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased width of the alveolar ridges.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009085","HPO_Synonym__c":"Alveolar ridge excess; Enlarged alveolar ridge; Hyperplasia of alveolar process of jaw; Hyperplasia of alveolar ridge; Increased size of alveolar ridge; Overgrowth of alveolar ridge; Overgrowth of gum ridge; Thick alveolar ridges; Thickened alveolar ridges","HPO_Name__c":"Alveolar ridge overgrowth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:123000","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal narrowing of the choana (the posterior nasal aperture).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000452","HPO_Synonym__c":"Coanal stenosis; Narrowing of the rear opening of the nasal cavity","HPO_Name__c":"Choanal stenosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:123000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000337","HPO_Synonym__c":"Bitemporal widening; Broad forehead; Increased bitemporal dimension; Increased bitemporal width; Increased width of the forehead; Intertemporal widening; Wide forehead","HPO_Name__c":"Broad forehead","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:123000","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"}},{"Provided_By__c":"OMIM:123000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Excessive growth of the bones of cranium, i.e., of the skull.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004437","HPO_Synonym__c":"Hyperostosis of cranial bones; Hyperostosis of cranial vault; Increased ossification of cranial bones","HPO_Name__c":"Cranial hyperostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:123000","Feature__r":{"HPO_Description__c":"Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000692","HPO_Synonym__c":"Abnormal dental position; Abnormal teeth spacing; Abnormality of alignment of teeth; Abnormality of teeth spacing; Crooked teeth; Malaligned teeth; Malposition of teeth; Malpositioned teeth; Misalignment of teeth; Teeth, malposition","HPO_Name__c":"Tooth malposition","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:123000","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:123000","Feature__r":{"HPO_Description__c":"Abnormal widening of the metaphyseal regions of long bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003016","HPO_Synonym__c":"Broad wide portion of long bone; Wide metaphyses; Widened long bone metaphyses; Widened metaphyses","HPO_Name__c":"Metaphyseal widening","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:123000","Feature__r":{"HPO_Description__c":"Incus ankylosis refers to congenital or acquired fixation of the incus, which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6001071","HPO_Name__c":"Incus ankylosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:123000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Redundant eyelid skin pressing the eyelashes against the cornea and/or conjunctiva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011225","HPO_Name__c":"Epiblepharon","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:123000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally reduced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005906","HPO_Synonym__c":"Mastoid processes poorly pneumatized","HPO_Name__c":"Delayed pneumatization of the mastoid process","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:123000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000212","HPO_Synonym__c":"Gingival enlargement; Gingival hyperplasia; Gum enlargement; Gum hypertrophy; Hypertrophic gingivitis","HPO_Name__c":"Gingival overgrowth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:123000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Delayed tooth eruption affecting the secondary dentition.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000696","HPO_Synonym__c":"Delayed eruption of adult teeth; Delayed eruption of permanent teeth; Delayed eruption of secondary dentition; Delayed eruption of secondary teeth; Delayed permanent dentition","HPO_Name__c":"Delayed eruption of permanent teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:123000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000410","HPO_Synonym__c":"Hearing loss, mixed; Mixed hearing impairment; Mixed hearing loss","HPO_Name__c":"Mixed hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:123000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000506","HPO_Synonym__c":"Corners of eye widely separated; Dystopia canthorum; Increased distance between medial canthi; Increased intercanthal distance","HPO_Name__c":"Telecanthus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:123000","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000648","HPO_Synonym__c":"Optic nerve atrophy; Optic-nerve degeneration","HPO_Name__c":"Optic atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:123000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased bone density of the skull base without significant changes in bony contour.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002694","HPO_Synonym__c":"Dense bone of skull base; Hyperossification of skull base; Hyperostosis of skull base; Marked sclerosis of skull base; Sclerosis of cranial base; Sclerosis of the skull base; Sclerotic skull base","HPO_Name__c":"Sclerosis of skull base","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["cmdd"]}