{"Name":"Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome","DiseaseID__c":"GARD:0021751","id":21751,"encodedName":"microcephaly-short-stature-intellectual-disability-facial-dysmorphism-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome","Xref_IDs__c":"C4749647; MEDGEN:1659920; MONDO:0018494; ORPHA:423306","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018494","Disease_Description__c":"Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism.","GARD_Name__c":"Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome","GARD_Synonym__c":"microcephaly, short stature, intellectual disability, facial dysmorphism syndrome","Curated_Disease_Description_Source__c":"MONDO:0018494","Curated_Disease_Description__c":"Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism.","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:423306","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018494","ORPHANET_ID__c":"ORPHA:423306","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de microcefalia-talla baja-discapacidad intelectual-dismorfia facial","Spanish_Description_Source__c":"ORPHA:423306","Spanish_Description__c":"El síndrome de microcefalia - talla baja - discapacidad intelectual - dismorfia facial, es un síndrome malformativo genético y poco frecuente, caracterizado por microcefalia postnatal, fallo de medro y talla baja, retraso global del desarrollo y discapacidad intelectual, hipotonía, y anomalías dismórficas características: nariz corta, puente nasal deprimido, orejas de implantación baja, cuello corto, clinodactilia y sindactilia cutánea de 2º-3º dedos de los pies, así como frente ancha, retrusión del tercio medio facial, pliegues epicánticos, cejas lateralmente escasas, nariz corta, surco nasolabial largo, dientes muy separados, micrognatia y rasgos faciales toscos en la edad adulta). Otras características asociadas incluyen edema transitorio posnatal generalizado, miopía, estrabismo e hipotiroidismo.","Spanish_Disease_Name__c":"síndrome de microcefalia-talla baja-discapacidad intelectual-dismorfia facial","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":"Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism.","Curated_Disease_Description_Source__c":"MONDO:0018494","GARD_Synonym__c":"microcephaly, short stature, intellectual disability, facial dysmorphism syndrome","Name":"Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological 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":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:423306"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:423306"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/423306","Source__c":"C4749647; MONDO:0018494; ORPHA:423306","Xref__c":"ORPHA:423306"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4749647","Source__c":"C4749647","Xref__c":"C4749647"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1659920","Source__c":"C4749647","Xref__c":"MEDGEN:1659920"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=771074000","Source__c":"C4749647","Xref__c":"771074000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018494","Source__c":"GARD:0021751","Xref__c":"MONDO:0018494"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"QARS1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Orthopedics","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["microcephaly, short stature, intellectual disability, facial dysmorphism syndrome"]}