{"Name":"Craniometaphyseal dysplasia, autosomal recessive","DiseaseID__c":"GARD:0001582","id":1582,"encodedName":"craniometaphyseal-dysplasia-autosomal-recessive","IsDeleted":false,"Disease_Name_Full__c":"Craniometaphyseal dysplasia, autosomal recessive","Xref_IDs__c":"C2931244; C536570; DOID:0080802; MEDGEN:419753; MONDO:0009035; OMIM:218400","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0009035","Disease_Description__c":"Autosomal recessive form of craniometaphyseal dysplasia.","GARD_Name__c":"Craniometaphyseal dysplasia, autosomal recessive","GARD_Synonym__c":"autosomal recessive craniometaphyseal dysplasia; cmdr","Curated_Disease_Description_Source__c":"GARD:0001582","Curated_Disease_Description__c":"Autosomal recessive 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 bone 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 GJA1 gene. As the name suggests, it is inherited in an autosomal recessive manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:218400","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009035","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 recessive 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 bone 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 GJA1 gene. As the name suggests, it is inherited in an autosomal recessive manner.","Curated_Disease_Description_Source__c":"GARD:0001582","GARD_Synonym__c":"autosomal recessive craniometaphyseal dysplasia; cmdr","Name":"Craniometaphyseal dysplasia, autosomal recessive","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"FACES: The National Craniofacial Association","Website__c":"https://www.faces-cranio.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001582","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536570","Source__c":"MONDO:0009035","Xref__c":"C536570"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080802","Source__c":"MONDO:0009035","Xref__c":"DOID:0080802"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419753","Source__c":"C2931244","Xref__c":"MEDGEN:419753"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931244","Source__c":"C2931244","Xref__c":"C2931244"},{"URL__c":"https://www.omim.org/entry/218400","Source__c":"C2931244; MONDO:0009035","Xref__c":"OMIM:218400"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009035","Source__c":"GARD:0001582","Xref__c":"MONDO:0009035"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GJA1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gja1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:218400","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:218400","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:218400","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:218400","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:218400","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:218400","Feature__r":{"HPO_Description__c":"Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000765","HPO_Synonym__c":"Abnormality of the chest; Abnormality of the thorax; Structural abnormality of the chest wall","HPO_Name__c":"Abnormal thorax morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:218400","Feature__r":{"HPO_Description__c":"Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000280","HPO_Synonym__c":"Coarse face; Coarse facial appearance; Coarse facial features; Coarse facies","HPO_Name__c":"Coarse facial features","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:218400","Feature__r":{"HPO_Description__c":"A structural anomaly of the nasopharynx.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001739","HPO_Synonym__c":"Abnormality of the nasopharynx","HPO_Name__c":"Abnormal nasopharynx morphology","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:218400","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:218400","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:218400","Feature__r":{"HPO_Description__c":"Uneven (irregular) increase in bone density of one or more of the phalanges of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009772","HPO_Synonym__c":"Patchy sclerosis of the phalanges of the hand; Phalangeal sclerosis; Uneven increase in bone density in finger bone","HPO_Name__c":"Patchy sclerosis of finger phalanx","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:218400","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:218400","Feature__r":{"HPO_Description__c":"The presence of dysplastic regions in metaphyseal regions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100255","HPO_Name__c":"Metaphyseal dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:218400","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:218400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005465","HPO_Synonym__c":"Enlargement of the facial bones; Excessive growth of facial bones; Excessive growth of facial skeleton; Hyperostosis of facial bones; Hyperostosis of facial skeleton; Hypertrophy of the facial bones; Increase in size of the facial bones; Overgrowth of facial bones; Overgrowth of facial skeleton; Overgrowth of the facial bones","HPO_Name__c":"Facial hyperostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:218400","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000187","HPO_Synonym__c":"Broad alveolar margins; Widened alveolar ridges","HPO_Name__c":"Broad alveolar ridges","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:218400","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:218400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000457","HPO_Synonym__c":"Depressed dorsum of nose; Depressed nasal dorsum; Flat dorsum of nose; Flat nasal dorsum; Flat nose; Recessed dorsum of nose; Recessed nasal dorsum; Recessed nasal ridge; Retruded dorsum of nose; Retruded nasal dorsum; Retruded nasal ridge","HPO_Name__c":"Depressed nasal ridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:218400","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:218400","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:218400","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"}}],"tags":{},"synonyms":["autosomal recessive craniometaphyseal dysplasia"," cmdr"]}