{"Name":"Hunter-McAlpine craniosynostosis","DiseaseID__c":"GARD:0002754","id":2754,"encodedName":"hunter-mcalpine-craniosynostosis","IsDeleted":false,"Disease_Name_Full__c":"Hunter-McAlpine craniosynostosis","Xref_IDs__c":"721227001; C1832408; C536072; MEDGEN:321949; MONDO:0011065; OMIM:601379; ORPHA:97340","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"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":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0011065","Disease_Description__c":"Hunter-McAlpine craniosynostosis is characterised by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter).","GARD_Name__c":"Hunter-McAlpine craniosynostosis","GARD_Synonym__c":"hunter mcalpine craniosynostosis syndrome; hunter-mcalpine craniosynostosis syndrome; hunter-mcalpine syndrome","Curated_Disease_Description_Source__c":"GARD:0002754","Curated_Disease_Description__c":"Hunter-McAlpine syndrome is a very rare condition characterized by developmental delay, intellectual disability, and small head size (microcephaly). Sometimes the microcephaly results from early closure of the bones in the skull, which is called craniosynostosis. This can cause a misshapen skull and is common in individuals with Hunter-McAlpine syndrome; in fact another name for the condition is Hunter-McAlpine craniosynostosis syndrome. Hunter-McAlpine syndrome is a genetic condition, meaning that it is caused by changes in the genes.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:97340","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011065","ORPHANET_ID__c":"ORPHA:97340","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hunter-mcalpine","Spanish_Description_Source__c":"ORPHA:97340","Spanish_Description__c":"Es un trastorno caracterizado por craneosinostosis, déficit intelectual, talla baja, dismorfia facial (cara ovalada con fisuras palpebrales almendradas, párpados caídos y nariz pequeña) y anomalías distales menores. Se ha descrito en 10 pacientes. La transmisión es autosómica dominante y el síndrome se asocia con la duplicación parcial del brazo largo del cromosoma 5 (5q35-5qter).","Spanish_Disease_Name__c":"síndrome de hunter-mcalpine","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":"Hunter-McAlpine syndrome is a very rare condition characterized by developmental delay, intellectual disability, and small head size (microcephaly). Sometimes the microcephaly results from early closure of the bones in the skull, which is called craniosynostosis. This can cause a misshapen skull and is common in individuals with Hunter-McAlpine syndrome; in fact another name for the condition is Hunter-McAlpine craniosynostosis syndrome. Hunter-McAlpine syndrome is a genetic condition, meaning that it is caused by changes in the genes.","Curated_Disease_Description_Source__c":"GARD:0002754","GARD_Synonym__c":"hunter mcalpine craniosynostosis syndrome; hunter-mcalpine craniosynostosis syndrome; hunter-mcalpine syndrome","Name":"Hunter-McAlpine craniosynostosis","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"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":"Antenatal","Provided_By__c":"ORPHA:97340"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:97340"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:97340"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1832408"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536072","Source__c":"MONDO:0011065","Xref__c":"C536072"},{"URL__c":"https://www.orpha.net/en/disease/detail/97340","Source__c":"C1832408; MONDO:0011065; ORPHA:97340","Xref__c":"ORPHA:97340"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=321949","Source__c":"C1832408","Xref__c":"MEDGEN:321949"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1832408","Source__c":"C1832408","Xref__c":"C1832408"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=721227001","Source__c":"C1832408; MONDO:0011065","Xref__c":"721227001"},{"URL__c":"https://www.omim.org/entry/601379","Source__c":"C1832408; MONDO:0011065; ORPHA:97340","Xref__c":"OMIM:601379"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011065","Source__c":"GARD:0002754","Xref__c":"MONDO:0011065"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:601379","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601379","Feature__r":{"HPO_Description__c":"A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007874","HPO_Synonym__c":"Almond shaped eyes; Almond-shaped opening between the eyelids","HPO_Name__c":"Almond-shaped palpebral fissure","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601379","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":"OMIM:601379","Feature__r":{"HPO_Description__c":"Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001363","HPO_Synonym__c":"Cranial suture synostosis; Craniosyostosis; Early fusion of cranial sutures; Premature closure of cranial sutures; Premature suture closure","HPO_Name__c":"Craniosynostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601379","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":"OMIM:601379","Feature__r":{"HPO_Description__c":"A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002714","HPO_Synonym__c":"Downturned corners of mouth; Downturned corners of the mouth; Downturned mouth; Downturned oral commisures","HPO_Name__c":"Downturned corners of mouth","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Congenital Abnormality"],"Specialist":["Orthopedics","Pediatrics"]},"synonyms":["hunter mcalpine craniosynostosis syndrome"," hunter-mcalpine craniosynostosis syndrome"," hunter-mcalpine syndrome"]}