{"Name":"Acromesomelic dysplasia 1, Maroteaux type","DiseaseID__c":"GARD:0000507","id":507,"encodedName":"acromesomelic-dysplasia-1-maroteaux-type","IsDeleted":false,"Disease_Name_Full__c":"Acromesomelic dysplasia 1, Maroteaux type","Xref_IDs__c":"718559000; C1864356; C535661; DOID:0080050; MEDGEN:355199; MONDO:0011275; OMIM:602875; ORPHA:40","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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011275","Disease_Description__c":"A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height <120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type .","GARD_Name__c":"Acromesomelic dysplasia 1, Maroteaux type","GARD_Synonym__c":"acromesomelic dysplasia 1; acromesomelic dysplasia maroteaux type; acromesomelic dysplasia, maroteaux type; amd1; st. helena dysplasia","Curated_Disease_Description_Source__c":"MONDO:0011275","Curated_Disease_Description__c":"A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height <120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type .","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:40","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011275","ORPHANET_ID__c":"ORPHA:40","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia acromesomélica tipo maroteaux","Spanish_Description_Source__c":"ORPHA:40","Spanish_Description__c":"Es una forma de displasia acromesomélica de herencia autosómica recesiva caracterizada por talla baja extrema (talla adulta <120 cm) con afectación tanto axial como apendicular (acortamiento de los segmentos medio y distal de las extremidades y acortamiento vertebral), y con apariencia facial e inteligencia normales. Es una forma menos grave que la displasia acromesomélica tipo Grebe y que la displasia acromesomélica tipo Hunter-Thomson.","Spanish_Disease_Name__c":"displasia acromesomélica tipo maroteaux","Spanish_GARD_Synonym__c":null,"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 autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height <120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type .","Curated_Disease_Description_Source__c":"MONDO:0011275","GARD_Synonym__c":"acromesomelic dysplasia 1; acromesomelic dysplasia maroteaux type; acromesomelic dysplasia, maroteaux type; amd1; st. helena dysplasia","Name":"Acromesomelic dysplasia 1, Maroteaux type","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/"}],"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:40"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:40"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1864356"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000507","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718559000","Source__c":"C1864356; MONDO:0011275","Xref__c":"718559000"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080050","Source__c":"MONDO:0011275","Xref__c":"DOID:0080050"},{"URL__c":"https://www.omim.org/entry/602875","Source__c":"C1864356; MONDO:0011275; ORPHA:40","Xref__c":"OMIM:602875"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1864356","Source__c":"C1864356","Xref__c":"C1864356"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=355199","Source__c":"C1864356","Xref__c":"MEDGEN:355199"},{"URL__c":"https://www.orpha.net/en/disease/detail/40","Source__c":"C1864356; MONDO:0011275; ORPHA:40","Xref__c":"ORPHA:40"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535661","Source__c":"MONDO:0011275","Xref__c":"C535661"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011275","Source__c":"GARD:0000507","Xref__c":"MONDO:0011275"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"NPR2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:40","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002007","HPO_Synonym__c":"Frontal protuberance; Skull bossing","HPO_Name__c":"Frontal bossing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:40","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000912","HPO_Synonym__c":"Congenital, upward displacement of the scapula; High scapula; High shoulder blade; Sprengel deformity","HPO_Name__c":"Sprengel anomaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:40","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000268","HPO_Synonym__c":"Long, narrow head; Tall and narrow skull","HPO_Name__c":"Dolichocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:40","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Anterior tongue-like protrusions of the vertebral bodies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004568","HPO_Synonym__c":"anterior beaking; Anterior beaking of vertebrae; Anterior beaking of vertebral bodies; Beaked vertebral bodies; Vertebral tongue-like protrusion","HPO_Name__c":"Beaking of vertebral bodies","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:40","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Forward prominence of the entire forehead, due to protrusion of the frontal bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011220","HPO_Synonym__c":"Prominence of frontal region; Prominent forehead; Pronounced forehead; Protruding forehead","HPO_Name__c":"Prominent forehead","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:40","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A kind of short stature in which different regions of the body are shortened to differing extents.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003498","HPO_Synonym__c":"Short stature, disproportionate","HPO_Name__c":"Disproportionate short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:40","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003300","HPO_Synonym__c":"Oval vertebral bodies; Ovoid vertebrae; Ovoid-shaped vertebral bodies","HPO_Name__c":"Ovoid vertebral bodies","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:40","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001156","HPO_Synonym__c":"Brachydactyly syndrome; Short fingers or toes","HPO_Name__c":"Brachydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:40","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001382","HPO_Synonym__c":"Double-Jointed; Extensible joints; Flexible joints; Hyperextensible joints; Increased joint mobility; Increased mobility of joints; Joint hyperextensibility; Joint hyperflexibility; Joint hyperlaxity; Joint laxity; Joints move beyond expected range of motion; Lax joints; Loose-jointedness","HPO_Name__c":"Joint hypermobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:40","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A bending or abnormal curvature of a long bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006487","HPO_Synonym__c":"Bowed long bones; Bowing of long bones; Bowing of the long bones; Camptomelia; Diaphyseal bowing; Diaphyseal bowing of long bones","HPO_Name__c":"Bowing of the long bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:40","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003307","HPO_Synonym__c":"Lordosis; Prominent swayback","HPO_Name__c":"Hyperlordosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:40","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Exaggerated anterior convexity of the thoracic vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002808","HPO_Synonym__c":"Gibbus deformity; Hunched back; Hyperkyphosis; Round back","HPO_Name__c":"Kyphosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:40","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:40","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008422","HPO_Synonym__c":"anterior wedging; Wedge-shaped vertebrae; Wedged vertebrae","HPO_Name__c":"Vertebral wedging","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:40","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal morphology of vertebral body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003312","HPO_Synonym__c":"Abnormal vertebral bodies; Abnormally shaped vertebrae","HPO_Name__c":"Abnormal form of the vertebral bodies","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:40","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001387","HPO_Synonym__c":"Joint stiffness; Stiff joint; Stiff joints","HPO_Name__c":"Joint stiffness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:40","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Posterior positioning of the nasal root in relation to the overall facial profile for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005280","HPO_Synonym__c":"Depressed bridge of nose; Depressed nasal bridge; Depressed nasal root; Flat bridge of nose; Flat nasal bridge; Flat nasal root; Flat, nasal bridge; Flattened nasal bridge; Low nasal bridge; Low nasal root; Retruded bridge of nose; Retruded nasal bridge","HPO_Name__c":"Depressed nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:40","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Small hands and feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003086","HPO_Name__c":"Acromesomelia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["acromesomelic dysplasia 1"," acromesomelic dysplasia maroteaux type"," acromesomelic dysplasia, maroteaux type"," amd1"," st. helena dysplasia"]}