{"Name":"Symphalangism with multiple anomalies of hands and feet","DiseaseID__c":"GARD:0005077","id":5077,"encodedName":"symphalangism-with-multiple-anomalies-of-hands-and-feet","IsDeleted":false,"Disease_Name_Full__c":"Symphalangism with multiple anomalies of hands and feet","Xref_IDs__c":"732955001; C1861391; C566098; MEDGEN:348859; MONDO:0008510; OMIM:185750; ORPHA:3246","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":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008510","Disease_Description__c":"Symphalangism with multiple anomalies of hands and feet is a rare, genetic, congenital limb malformation disorder characterized by bilateral symphalangism of hands and feet associated with cutaneous syndactyly of digits II-V, unilateral or bilateral brachydactyly type D (i.e. short, broad terminal phalanges of the thumbs), clinodactyly of fifth toes and/or mild hypoplasia of the thenar and hypothenar eminences. There have been no further descriptions in the literature since 1981.","GARD_Name__c":"Symphalangism with multiple anomalies of hands and feet","GARD_Synonym__c":"learman syndrome; symphalangism with multiple anomalies of hands and feet syndrome","Curated_Disease_Description_Source__c":"MONDO:0008510","Curated_Disease_Description__c":"Symphalangism with multiple anomalies of hands and feet is a rare, genetic, congenital limb malformation disorder characterized by bilateral symphalangism of hands and feet associated with cutaneous syndactyly of digits II-V, unilateral or bilateral brachydactyly type D (i.e. short, broad terminal phalanges of the thumbs), clinodactyly of fifth toes and/or mild hypoplasia of the thenar and hypothenar eminences. There have been no further descriptions in the literature since 1981.","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:3246","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008510","ORPHANET_ID__c":"ORPHA:3246","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Sinfalangismo-anomalías múltiples de manos y pies","Spanish_Description_Source__c":"ORPHA:3246","Spanish_Description__c":"Es un trastorno malformativo congénito de las extremidades, genético y poco frecuente, caracterizado por sinfalangismo bilateral de manos y pies asociado a sindactilia cutánea de los dedos 2º-4º, braquidactilia uni- o bilateral tipo D (es decir, falanges terminales de los pulgares anchas y cortas), clinodactilia del 5º dedo del pie y/o hipoplasia leve de la eminencia tenar e hipotenar. No se han descrito más casos en la literatura desde 1981.","Spanish_Disease_Name__c":"sinfalangismo-anomalías múltiples de manos y pies","Spanish_GARD_Synonym__c":"síndrome de learman","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":"Symphalangism with multiple anomalies of hands and feet is a rare, genetic, congenital limb malformation disorder characterized by bilateral symphalangism of hands and feet associated with cutaneous syndactyly of digits II-V, unilateral or bilateral brachydactyly type D (i.e. short, broad terminal phalanges of the thumbs), clinodactyly of fifth toes and/or mild hypoplasia of the thenar and hypothenar eminences. There have been no further descriptions in the literature since 1981.","Curated_Disease_Description_Source__c":"MONDO:0008510","GARD_Synonym__c":"learman syndrome; symphalangism with multiple anomalies of hands and feet syndrome","Name":"Symphalangism with multiple anomalies of hands and feet","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":"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":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:3246"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:3246"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=732955001","Source__c":"C1861391; MONDO:0008510","Xref__c":"732955001"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1861391","Source__c":"C1861391","Xref__c":"C1861391"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566098","Source__c":"MONDO:0008510","Xref__c":"C566098"},{"URL__c":"https://www.orpha.net/en/disease/detail/3246","Source__c":"C1861391; MONDO:0008510; ORPHA:3246","Xref__c":"ORPHA:3246"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=348859","Source__c":"C1861391","Xref__c":"MEDGEN:348859"},{"URL__c":"https://www.omim.org/entry/185750","Source__c":"C1861391; MONDO:0008510; ORPHA:3246","Xref__c":"OMIM:185750"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008510","Source__c":"GARD:0005077","Xref__c":"MONDO:0008510"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3246","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence of the distal interphalangeal flexion creases of the fingers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001032","HPO_Synonym__c":"Absence of skin creases over distal interphalangeal joints; Aplasia of the distal interphalangeal creases; Distal finger flexion creases absent","HPO_Name__c":"Absent distal interphalangeal creases","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3246","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Anomalous flexion crease (i.e., a transverse line that crosses the skin of a finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006143","HPO_Synonym__c":"Abnormal finger flexion creases","HPO_Name__c":"Abnormal finger flexion crease","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3246","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:3246","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal union between bones or parts of bones of the fingers. The synonymous term \\\"symphalangism of the hand\\\" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are referred to as \\\"Symphalangism\\\" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are referred to as \\\"bony\\\" Syndactyly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009700","HPO_Synonym__c":"Fused finger bones; Symphalangism of the hand; Synostosis involving bones of the fingers","HPO_Name__c":"Finger symphalangism","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3246","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Congenital bony fusion of two adjacent phalanges of the fifth finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004218","HPO_Synonym__c":"Fifth finger symphalangism; Fused little finger bones; Fused pinkie finger bones; Fused pinky finger bones; Symphalagism of the little finger","HPO_Name__c":"Fifth finger symphalangism","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3246","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010179","HPO_Synonym__c":"Fused toe bones","HPO_Name__c":"Toe symphalangism","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3246","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001245","HPO_Synonym__c":"Decreased thenar eminence; Hypoplastic thenar eminences; Thenar hypoplasia; Thenar muscle hypoplasia","HPO_Name__c":"Small thenar eminence","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3246","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030084","HPO_Synonym__c":"Permanent curving of the finger","HPO_Name__c":"Clinodactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3246","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000256","HPO_Synonym__c":"Increased size of cranium; Increased size of skull; Large head; Large head circumference; Macrocephalus; Macrocrania; Megacephaly","HPO_Name__c":"Macrocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3246","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A soft tissue continuity in the anteroposterior axis between the second to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005650","HPO_Synonym__c":"Cutaneous syndactyly between fingers 2 and 5; Webbed 2nd-5th fingers","HPO_Name__c":"2-5 finger cutaneous syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3246","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Underdevelopment (hypoplasia) of the distal phalanx of big toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010103","HPO_Synonym__c":"Hypoplastic/small distal phalanx of the hallux; Small distal phalanx of big toe; Small distal phalanx of hallux; Small outermost bone of big toe","HPO_Name__c":"Short distal phalanx of hallux","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3246","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Congenital bony fusion of two adjacent phalanges of the fourth finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004197","HPO_Synonym__c":"Fused ring finger bones; Symphalangism of the ring finger","HPO_Name__c":"Fourth finger symphalangism","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3246","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000405","HPO_Synonym__c":"Conduction deafness; Conductive deafness; Conductive hearing loss; Hearing loss, conductive","HPO_Name__c":"Conductive hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3246","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Webbing or fusion of the toes, 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 toes in a proximo-distal axis are referred to as \\\"Symphalangism\\\".","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001770","HPO_Synonym__c":"Foot syndactyly; Fused toes; Syndactyly of feet; Syndactyly of toes; Webbed toes","HPO_Name__c":"Toe syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3246","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007477","HPO_Synonym__c":"Abnormal fingerprints; Dermatoglyphic abnormalities","HPO_Name__c":"Abnormal dermatoglyphics","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3246","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006019","HPO_Synonym__c":"Decreased space in hinge joint","HPO_Name__c":"Reduced proximal interphalangeal joint space","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3246","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001018","HPO_Name__c":"Abnormal palmar dermatoglyphics","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3246","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010487","HPO_Synonym__c":"Hypoplasia of the hypothenar eminence; Hypothenar hypoplasia","HPO_Name__c":"Small hypothenar eminence","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3246","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:3246","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100371","HPO_Synonym__c":"Absent/small outermost little toe bone; Absent/small outermost pinkie toe bone; Absent/small outermost pinky toe bone; Absent/underdeveloped outermost pinky toe bone","HPO_Name__c":"Aplasia/Hypoplasia of the distal phalanx of the 5th toe","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3246","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010182","HPO_Synonym__c":"Abnormality of the outermost bone of the toes","HPO_Name__c":"Abnormal distal toe phalanx morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3246","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009881","HPO_Synonym__c":"Absent distal finger phalanges; Absent distal finger phalanx; Absent distal phalanges of the hand; Absent outermost hand bone; Aplasia of outermost hand bone; Aplasia of the distal phalanges of the hand","HPO_Name__c":"Aplasia of distal finger phalanx","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["learman syndrome"," symphalangism with multiple anomalies of hands and feet syndrome"]}