{"Name":"Parietal foramina with cleidocranial dysplasia","DiseaseID__c":"GARD:0017207","id":17207,"encodedName":"parietal-foramina-with-cleidocranial-dysplasia","IsDeleted":false,"Disease_Name_Full__c":"Parietal foramina with cleidocranial dysplasia","Xref_IDs__c":"C1868597; C566825; MEDGEN:401479; MONDO:0008198; OMIM:168550; ORPHA:251290","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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:0008198","Disease_Description__c":"A rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported.","GARD_Name__c":"Parietal foramina with cleidocranial dysplasia","GARD_Synonym__c":"parietal foramina with clavicular hypoplasia; parietal foramina with cleidocranial dysostosis; pfmccd","Curated_Disease_Description_Source__c":"MONDO:0008198","Curated_Disease_Description__c":"A rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported.","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:251290","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008198","ORPHANET_ID__c":"ORPHA:251290","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Foramina parietal con hipoplasia clavicular","Spanish_Description_Source__c":"ORPHA:251290","Spanish_Description__c":"Es un trastorno del desarrollo óseo, genético y poco frecuente, caracterizado por la presencia de ''foramina parietal'' (defecto de osificación simétrico, en ambos lados del cráneo en zona parietal), junto con hipoplasia clavicular (clavículas cortas y anómalas con extremos laterales cónicos, con o sin pérdida del acromion). Otros hallazgos adicionales pueden incluir leve dismorfia craneofacial (macrocefalia, frente ancha y prominente). No se han descrito anomalías dentales asociadas.","Spanish_Disease_Name__c":"foramina parietal con hipoplasia clavicular","Spanish_GARD_Synonym__c":"foramina parietal con displasia cleidocraneal","Category_Linearization__c":"ORPHA:93419","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":"A rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported.","Curated_Disease_Description_Source__c":"MONDO:0008198","GARD_Synonym__c":"parietal foramina with clavicular hypoplasia; parietal foramina with cleidocranial dysostosis; pfmccd","Name":"Parietal foramina with cleidocranial dysplasia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Children's Craniofacial Association","Website__c":"https://ccakids.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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:251290"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:251290"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566825","Source__c":"MONDO:0008198","Xref__c":"C566825"},{"URL__c":"https://www.omim.org/entry/168550","Source__c":"C1868597; MONDO:0008198; ORPHA:251290","Xref__c":"OMIM:168550"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=401479","Source__c":"C1868597","Xref__c":"MEDGEN:401479"},{"URL__c":"https://www.orpha.net/en/disease/detail/251290","Source__c":"C1868597; MONDO:0008198; ORPHA:251290","Xref__c":"ORPHA:251290"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1868597","Source__c":"C1868597","Xref__c":"C1868597"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=771338002","Source__c":"C1868597","Xref__c":"771338002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008198","Source__c":"GARD:0017207","Xref__c":"MONDO:0008198"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MSX2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/msx2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:168550","Feature__r":{"HPO_Description__c":"Reduced length of the clavicles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000894","HPO_Synonym__c":"Clavicular hypoplasia; Hypoplastic clavicles; Short collarbone; Underdeveloped clavicles","HPO_Name__c":"Short clavicles","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:168550","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002697","HPO_Synonym__c":"Persistent foramina of the parietal bones; Symmetrical, oval defects in the parietal bone; Symmetrical, oval parietal bone defects","HPO_Name__c":"Parietal foramina","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:168550","Feature__r":{"HPO_Description__c":"An abnormally increased width of the cranial fontanelles and sutures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004492","HPO_Synonym__c":"Widely patent fontanels and sutures","HPO_Name__c":"Widely patent fontanelles and sutures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:168550","Feature__r":{"HPO_Description__c":"A congenital subcutaneous cyst that arises from entrapment of skin along the lines of embryonic fusion. In contrast to epidermal cysts, dermoid cysts tend to contain various adnexal structures such as hair, sebaceous, eccrine or apocrine glands. Dermoid cysts are present at birth, and are indolent, firm, deep, subcutaneous nodules. They are often located on the head and neck, and rarely in the anogenital area. Dermoid cysts are slowly progressive and can grow to a size of 1 to 4 cm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025247","HPO_Name__c":"Dermoid cyst","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:168550","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:168550","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["parietal foramina with clavicular hypoplasia"," parietal foramina with cleidocranial dysostosis"," pfmccd"]}