{"Name":"Ectrodactyly","DiseaseID__c":"GARD:0006319","id":6319,"encodedName":"ectrodactyly","IsDeleted":false,"Disease_Name_Full__c":"Ectrodactyly","Xref_IDs__c":"81208006; C0265554; C75000; DOID:0090020; HP:0100257; MEDGEN:78566; MONDO:0016576; OMIMPS:183600; ORPHA:2440","USA_Estimate__c":"50,000","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":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0016576","Disease_Description__c":"A rare, congenital, bone development disorder characterized by a spectrum of terminal limb malformations including hypoplasia/absence of central rays of the hands and feet (that can occur in one to all four digits), variable degrees of median clefts of the hands and/or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/toe to a lobster claw-like appearance of the hands and feet. It can occur as an isolated malformation or it can be a feature in various syndromes.","GARD_Name__c":"Ectrodactyly","GARD_Synonym__c":"cleft hand; fewer digits; lobster claw deformity; lobster claw hand; lobster-claw deformity; shfm; split hand foot malformation; split hand-foot malformation; split hand/split foot malformation; split-hand deformity; split-hand/foot malformation","Curated_Disease_Description_Source__c":"GARD:0006319","Curated_Disease_Description__c":"Split hand foot malformation (SHFM) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits. The severity of this condition varies widely among affected individuals. SHFM is sometimes called ectrodactyly; however, this is a nonspecific term used to describe missing digits. SHFM may occur by itself (isolated) or it may be part of a syndrome with abnormalities in other parts of the body. At least six different forms of isolated SHFM have been described. Each type is associated with a different underlying genetic cause. SHFM1 has been linked to chromosome 7, and SHFM2 is linked to the X chromosome. SHFM3 is caused by a duplication of chromosome 10 at position 10q24. Changes in the TP63 gene cause SHFM4. SHFM5 is linked to chromosome 2, and SHFM6 is caused by genetic changes in the WNT10B gene. SHFM may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:2440","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016576","ORPHANET_ID__c":"ORPHA:2440","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Malformación aislada de mano hendida-pie hendido","Spanish_Description_Source__c":"ORPHA:2440","Spanish_Description__c":"Es un trastorno congénito del desarrollo óseo poco frecuente que se caracteriza por un espectro de malformaciones terminales de las extremidades que incluyen hipoplasia/ausencia de los rayos centrales de las manos y los pies (que puede ocurrir en uno a cuatro dedos), grado variables de hendiduras centrales de las manos y/o pies, aplasia y sindactilia, de gravedad variable que oscila desde una malformación del dedo central del pie o la mano hasta una deformidad en pinza de langosta en las manos y los pies. Puede presentarse como una malformación aislada o como una característica de varios síndromes.","Spanish_Disease_Name__c":"malformación aislada de mano hendida-pie hendido","Spanish_GARD_Synonym__c":"ectrodactilia; malformación de manos y pies hendidos; shfm","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":"Split hand foot malformation (SHFM) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits. The severity of this condition varies widely among affected individuals. SHFM is sometimes called ectrodactyly; however, this is a nonspecific term used to describe missing digits. SHFM may occur by itself (isolated) or it may be part of a syndrome with abnormalities in other parts of the body. At least six different forms of isolated SHFM have been described. Each type is associated with a different underlying genetic cause. SHFM1 has been linked to chromosome 7, and SHFM2 is linked to the X chromosome. SHFM3 is caused by a duplication of chromosome 10 at position 10q24. Changes in the TP63 gene cause SHFM4. SHFM5 is linked to chromosome 2, and SHFM6 is caused by genetic changes in the WNT10B gene. SHFM may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.","Curated_Disease_Description_Source__c":"GARD:0006319","GARD_Synonym__c":"cleft hand; fewer digits; lobster claw deformity; lobster claw hand; lobster-claw deformity; shfm; split hand foot malformation; split hand-foot malformation; split hand/split foot malformation; split-hand deformity; split-hand/foot malformation","Name":"Ectrodactyly","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Helping Hands Foundation","Website__c":"https://helpinghandsgroup.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:2440"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2440"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0265554"},{"Type__c":"GTR","Curie__c":"MEDGEN:C2931019"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006319","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=81208006","Source__c":"C0265554; MONDO:0016576","Xref__c":"81208006"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C75000","Source__c":"C0265554; MONDO:0016576","Xref__c":"C75000"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS183600","Source__c":"MONDO:0016576","Xref__c":"OMIMPS:183600"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0090020","Source__c":"MONDO:0016576","Xref__c":"DOID:0090020"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=78566","Source__c":"C0265554","Xref__c":"MEDGEN:78566"},{"URL__c":"https://www.orpha.net/en/disease/detail/2440","Source__c":"MONDO:0016576","Xref__c":"ORPHA:2440"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265554","Source__c":"C0265554","Xref__c":"C0265554"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016576","Source__c":"GARD:0006319","Xref__c":"MONDO:0016576"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0100257","Source__c":"C0265554","Xref__c":"HP:0100257"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"WNT10B","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"DLX6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"EPS15L1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"DLX5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TP63","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tp63","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive","Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2440","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001839","HPO_Synonym__c":"Foot ectrodactyly; Lobster-claw foot deformity; Split foot; Split-foot","HPO_Name__c":"Split foot","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2440","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A developmental defect resulting in the presence of fewer than the normal number of digits.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012165","HPO_Name__c":"Oligodactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2440","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as \\\"bony\\\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as \\\"Symphalangism\\\".","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006101","HPO_Synonym__c":"Partial syndactyly","HPO_Name__c":"Finger syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2440","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2440","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middle fingers as far as oligo- or monodactyl hands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001171","HPO_Synonym__c":"Ectrodactyly of the hand; Hand ectrodactyly; Split hand; Split-hand","HPO_Name__c":"Split hand","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2440","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000526","HPO_Synonym__c":"Absent iris","HPO_Name__c":"Aniridia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2440","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004058","HPO_Name__c":"Hand monodactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2440","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The total absence of the hand, with no bony elements distal to the radius or ulna.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004050","HPO_Synonym__c":"Absent hand; Acheiria","HPO_Name__c":"Absent hand","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["cleft hand"," fewer digits"," lobster claw deformity"," lobster claw hand"," lobster-claw deformity"," shfm"," split hand foot malformation"," split hand-foot malformation"," split hand/split foot malformation"," split-hand deformity"," split-hand/foot malformation"]}