{"Name":"Severe achondroplasia-developmental delay-acanthosis nigricans syndrome","DiseaseID__c":"GARD:0009443","id":9443,"encodedName":"severe-achondroplasia-developmental-delay-acanthosis-nigricans-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Severe achondroplasia-developmental delay-acanthosis nigricans syndrome","Xref_IDs__c":"699870002; C2674173; DOID:0111158; MEDGEN:393098; MONDO:0014658; OMIM:616482; ORPHA:85165","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0014658","Disease_Description__c":"Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the <i>FGFR3</i> gene; 4p16.3).","GARD_Name__c":"Severe achondroplasia-developmental delay-acanthosis nigricans syndrome","GARD_Synonym__c":"saddan; saddan dysplasia; severe achondroplasia with developmental delay and acanthosis nigricans","Curated_Disease_Description_Source__c":"MONDO:0014658","Curated_Disease_Description__c":"SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a rare disorder of bone growth characterized by skeletal, brain, and skin abnormalities. All people with this condition have extremely short stature with particularly short arms and legs. Other features include unusual bowing of the leg bones; a small chest with short ribs and curved collar bones; short, broad fingers; and folds of extra skin on the arms and legs.  Structural abnormalities of the brain cause seizures, profound developmental delay, and intellectual disability. Several affected individuals also have had episodes in which their breathing slows or stops for short periods (apnea).  Acanthosis nigricans, a progressive skin disorder characterized by thick, dark, velvety skin, is another characteristic feature of SADDAN that develops in infancy or early childhood.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:85165","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014658","ORPHANET_ID__c":"ORPHA:85165","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de acondroplasia grave-retraso del desarrollo-acantosis nigricans","Spanish_Description_Source__c":"ORPHA:85165","Spanish_Description__c":"Es un síndrome caracterizado por la asociación de acondroplasia grave con retraso del desarrollo y acantosis nigricans. Hasta la fecha se ha notificado en cuatro individuos no emparentados. También se describieron anomalías estructurales del sistema nervioso central, crisis epilépticas e hipoacusia, así como incurvación de la clavícula, el fémur, la tibia y el peroné en alguno de los casos. El síndrome está causado por una sustitución Lys650Met en el dominio cinasa del receptor 3 del factor de crecimiento de fibroblastos (codificado por el gen <i>FGFR3</i>; 4p16.3).","Spanish_Disease_Name__c":"síndrome de acondroplasia grave-retraso del desarrollo-acantosis nigricans","Spanish_GARD_Synonym__c":"saddan","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":"SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a rare disorder of bone growth characterized by skeletal, brain, and skin abnormalities. All people with this condition have extremely short stature with particularly short arms and legs. Other features include unusual bowing of the leg bones; a small chest with short ribs and curved collar bones; short, broad fingers; and folds of extra skin on the arms and legs.  Structural abnormalities of the brain cause seizures, profound developmental delay, and intellectual disability. Several affected individuals also have had episodes in which their breathing slows or stops for short periods (apnea).  Acanthosis nigricans, a progressive skin disorder characterized by thick, dark, velvety skin, is another characteristic feature of SADDAN that develops in infancy or early childhood.","Curated_Disease_Description_Source__c":"MONDO:0014658","GARD_Synonym__c":"saddan; saddan dysplasia; severe achondroplasia with developmental delay and acanthosis nigricans","Name":"Severe achondroplasia-developmental delay-acanthosis nigricans syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Little People of America","Website__c":"https://www.lpaonline.org/"},{"Account_Name__c":"Little People UK","Website__c":"https://littlepeopleuk.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":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin 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":"Childhood","Provided_By__c":"ORPHA:85165"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2674173"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009443","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=699870002","Source__c":"MONDO:0014658","Xref__c":"699870002"},{"URL__c":"https://www.orpha.net/en/disease/detail/85165","Source__c":"C2674173; MONDO:0014658; ORPHA:85165","Xref__c":"ORPHA:85165"},{"URL__c":"https://www.omim.org/entry/616482","Source__c":"MONDO:0014658; ORPHA:85165","Xref__c":"OMIM:616482"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=393098","Source__c":"C2674173","Xref__c":"MEDGEN:393098"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2674173","Source__c":"C2674173","Xref__c":"C2674173"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111158","Source__c":"MONDO:0014658","Xref__c":"DOID:0111158"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014658","Source__c":"GARD:0009443","Xref__c":"MONDO:0014658"},{"URL__c":"https://medlineplus.gov/genetics/condition/saddan","Source__c":"GARD:0009443","Xref__c":"https://medlineplus.gov/genetics/condition/saddan"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FGFR3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/fgfr3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:85165","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the corpus callosum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002079","HPO_Synonym__c":"Corpus callosum hypoplasia; Hypoplasia of corpus callosum; Hypoplastic corpus callosum; Underdevelopment of part of brain called corpus callosum","HPO_Name__c":"Hypoplasia of the corpus callosum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85165","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Partial or complete wasting (loss) of brain tissue that was once present.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012444","HPO_Synonym__c":"Brain degeneration; Brain wasting","HPO_Name__c":"Brain atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85165","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009118","HPO_Name__c":"Aplasia/Hypoplasia of the mandible","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85165","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally increased size of the cerebellum compared to other brain structures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012081","HPO_Name__c":"Enlarged cerebellum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85165","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Severe intellectual disability (ID) is defined as a type of ID characterized by severely sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 20-34.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010864","HPO_Synonym__c":"Early and severe mental retardation; Intellectual disability, severe; Mental retardation, severe; Severe mental retardation","HPO_Name__c":"Severe intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85165","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of the clavicles (collar bones).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000889","HPO_Synonym__c":"Abnormal clavicles; Abnormal collarbone; Abnormality of the clavicle","HPO_Name__c":"Abnormal clavicle morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85165","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005871","HPO_Name__c":"Metaphyseal chondrodysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85165","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A bending or abnormal curvature of the fibula.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010502","HPO_Synonym__c":"Bowed calf bone","HPO_Name__c":"Fibular bowing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85165","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A bending or abnormal curvature of the tibia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002982","HPO_Synonym__c":"Bowed shankbone; Bowed shinbone; Bowed tibia; Bowing of the tibia","HPO_Name__c":"Tibial bowing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85165","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85165","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000956","HPO_Synonym__c":"Darkened and thickened skin; Keratosis nigricans","HPO_Name__c":"Acanthosis nigricans","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85165","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Bowing (abnormal curvature) of the femur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002980","HPO_Synonym__c":"Bowed femur; Bowed femura; Bowed femurs; Bowed thighbone","HPO_Name__c":"Femoral bowing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85165","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002197","HPO_Synonym__c":"Generalized onset seizure; Generalized seizures; Generalized-onset seizures; Primary generalized seizure","HPO_Name__c":"Generalized-onset seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85165","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A severe delay in the achievement of motor or mental milestones in the domains of development of a child.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011344","HPO_Synonym__c":"Global developmental delay, severe","HPO_Name__c":"Severe global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Orthopedics","Pediatrics"],"Account":["Dermatology"]},"synonyms":["saddan"," saddan dysplasia"," severe achondroplasia with developmental delay and acanthosis nigricans"]}