{"Name":"Fuhrmann syndrome","DiseaseID__c":"GARD:0002410","id":2410,"encodedName":"fuhrmann-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Fuhrmann syndrome","Xref_IDs__c":"721296004; C1856728; C538189; DOID:0090067; MEDGEN:346429; MONDO:0009232; OMIM:228930; ORPHA:2854","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":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009232","Disease_Description__c":"Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly.","GARD_Name__c":"Fuhrmann syndrome","GARD_Synonym__c":"fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly; fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome; fuhrmann rieger de sousa syndrome; fuhrmann-rieger-de sousa syndrome","Curated_Disease_Description_Source__c":"GARD:0002410","Curated_Disease_Description__c":"Fuhrmann syndrome is a very rare genetic syndrome characterized by skeletal abnormalities. It is a type of skeletal dysplasia. Signs and symptoms of Fuhrmann syndrome are present from birth and may include bowing of the femurs (the upper bones of the legs), having no fibula (lower bone of the leg) or a smaller fibula than usual, and having more fingers or toes than normal (polydactyly) or fewer fingers or toes than normal (oligodactyly). Fuhrmann syndrome is caused by genetic changes (changes) to the WNT7A gene and is inherited in an autosomal recessive manner. Diagnosis of the syndrome can be made when a doctor observes signs and symptoms consistent with the syndrome. The diagnosis can be confirmed by genetic testing.","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:2854","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009232","ORPHANET_ID__c":"ORPHA:2854","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de fuhrmann","Spanish_Description_Source__c":"ORPHA:2854","Spanish_Description__c":"Es un síndrome caracterizado principalmente por incurvación femoral, aplasia o hipoplasia de los peronés y poli-, oligo- y sindactilia.","Spanish_Disease_Name__c":"síndrome de fuhrmann","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":"Fuhrmann syndrome is a very rare genetic syndrome characterized by skeletal abnormalities. It is a type of skeletal dysplasia. Signs and symptoms of Fuhrmann syndrome are present from birth and may include bowing of the femurs (the upper bones of the legs), having no fibula (lower bone of the leg) or a smaller fibula than usual, and having more fingers or toes than normal (polydactyly) or fewer fingers or toes than normal (oligodactyly). Fuhrmann syndrome is caused by genetic changes (changes) to the WNT7A gene and is inherited in an autosomal recessive manner. Diagnosis of the syndrome can be made when a doctor observes signs and symptoms consistent with the syndrome. The diagnosis can be confirmed by genetic testing.","Curated_Disease_Description_Source__c":"GARD:0002410","GARD_Synonym__c":"fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly; fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome; fuhrmann rieger de sousa syndrome; fuhrmann-rieger-de sousa syndrome","Name":"Fuhrmann 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":"Arthrogryposis Multiplex Congenita Support Inc.","Website__c":"https://www.amcsupport.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":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Craniofacial Anomalies","Tag_Category__c":"Account","curated_tag_name":"Craniofacial anomalies"},{"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:2854"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2854"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1856728"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002410","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/228930","Source__c":"C1856728; MONDO:0009232; ORPHA:2854","Xref__c":"OMIM:228930"},{"URL__c":"https://www.orpha.net/en/disease/detail/2854","Source__c":"C1856728; MONDO:0009232; ORPHA:2854","Xref__c":"ORPHA:2854"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=721296004","Source__c":"C1856728; MONDO:0009232","Xref__c":"721296004"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1856728","Source__c":"C1856728","Xref__c":"C1856728"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0090067","Source__c":"MONDO:0009232","Xref__c":"DOID:0090067"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538189","Source__c":"MONDO:0009232","Xref__c":"C538189"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=346429","Source__c":"C1856728","Xref__c":"MEDGEN:346429"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009232","Source__c":"GARD:0002410","Xref__c":"MONDO:0009232"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"WNT7A","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:228930","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A developmental defect resulting in the presence of fewer than the normal number of toes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001849","HPO_Synonym__c":"Missing toes; Oligodactyly of feet","HPO_Name__c":"Foot oligodactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:228930","Feature__r":{"HPO_Description__c":"Absence of the fibula.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002990","HPO_Synonym__c":"Absent calf bone; Absent fibulae; Absent-hypoplastic fibulae","HPO_Name__c":"Fibular aplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:228930","Feature__r":{"HPO_Description__c":"Small or missing phalangeal bones of the fingers of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009767","HPO_Synonym__c":"Aplastic/hypoplastic phalanges; Aplastic/hypoplastic phalanges of the hand; Hypoplastic/absent phalanges","HPO_Name__c":"Aplasia/Hypoplasia of the phalanges of the hand","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:228930","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:228930","Feature__r":{"HPO_Description__c":"Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000141","HPO_Synonym__c":"Abnormal absence of menstruation","HPO_Name__c":"Amenorrhea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:228930","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A developmental defect resulting in the presence of fewer than the normal number of fingers (i.e., aplasia of one or more fingers).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009380","HPO_Synonym__c":"Absent fingers; Aplasia of the fingers; Hand has less than 5 fingers; Hand oligodactyly","HPO_Name__c":"Finger aplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:228930","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the fibula.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006492","HPO_Synonym__c":"Absent/small calf bone; Absent/underdeveloped calf bone; Fibular aplasia/hypoplasia; Hypoplastic/aplastic fibulae","HPO_Name__c":"Aplasia/Hypoplasia of the fibula","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:228930","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the bony pelvis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008839","HPO_Synonym__c":"Hypoplastic pelvic bones; Small pelvis","HPO_Name__c":"Hypoplastic pelvis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:228930","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001162","HPO_Synonym__c":"Extra little finger; Extra pinkie finger; Extra pinky finger; Polydactyly affecting the 5th finger; Postaxial polydactyly of fingers; Postaxial polydactyly of hand; Postaxial polydactyly of hands","HPO_Name__c":"Postaxial hand polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:228930","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Small/hypoplastic or absent/aplastic fingers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006265","HPO_Synonym__c":"Absent/small fingers; Absent/underdeveloped fingers","HPO_Name__c":"Aplasia/Hypoplasia of fingers","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:228930","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence of the patella.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006443","HPO_Synonym__c":"Absent kneecap; Absent patella; Absent patellae; Absent patellas; Aplastic patellae","HPO_Name__c":"Patellar aplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:228930","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A small/hypoplastic or absent/aplastic 5th finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006262","HPO_Synonym__c":"Absent/small little finger; Absent/small pinkie finger; Absent/small pinky finger; Absent/underdeveloped little finger; Absent/underdeveloped pinkie finger; Absent/underdeveloped pinky finger","HPO_Name__c":"Aplasia/Hypoplasia of the 5th finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:228930","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001374","HPO_Synonym__c":"Congenital dislocation of the hip; Congenital dislocation of the hips; Congenital hip anomaly; Congenital hip dislocations; Dislocated hip since birth","HPO_Name__c":"Congenital hip dislocation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:228930","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Aplasia or Hypoplasia affecting the metacarpal bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005914","HPO_Synonym__c":"Absent or hypoplastic metacarpals; Absent/small long bones of hand; Absent/underdeveloped long bones of hand; Aplastic/hypoplastic metacarpals; Hypoplastic metacarpals; Hypoplastic/absent metacarpal bones; Hypoplastic/absent metacarpals; Metacarpal aplasia/hypoplasia","HPO_Name__c":"Aplasia/Hypoplasia involving the metacarpal bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:228930","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001762","HPO_Synonym__c":"Club feet; Club foot; Clubbing of feet; Clubfeet; Clubfoot; Equinovarus; Foot, talipes equinovarus; Pes equinovarus; Pes equinus","HPO_Name__c":"Talipes equinovarus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:228930","HPO_Frequency__c":"Occasional (5-29%)","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":"OMIM:228930","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":"OMIM:228930","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:228930","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the radius.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002984","HPO_Synonym__c":"Hypoplastic radii; Hypoplastic radius; Radial hypoplasia; Short radii; Short radius; Shortening of radius; Underdeveloped outer large forearm bone","HPO_Name__c":"Hypoplasia of the radius","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:228930","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the metatarsal bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001964","HPO_Synonym__c":"Absent or hypoplastic metatarsal; Absent/hypoplastic metacarpals; Absent/hypoplastic metatarsals; Absent/small long bone of foot; Absent/underdeveloped long bone of foot; Aplastic/hypoplastic metatarsals","HPO_Name__c":"Aplasia/Hypoplasia of metatarsal bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:228930","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":"OMIM:228930","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009465","HPO_Synonym__c":"Finger bends toward pinky; Ulnar Drift","HPO_Name__c":"Ulnar deviation of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:228930","Feature__r":{"HPO_Description__c":"Congenital absence of the toenail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001802","HPO_Synonym__c":"Absent toenail","HPO_Name__c":"Absent toenail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:228930","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A bending or abnormal curvature of the radius.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002986","HPO_Synonym__c":"Bowed radii; Bowed radius; Bowing of outer large bone of the forearm; Bowing of radius bone of the forearm","HPO_Name__c":"Radial bowing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:228930","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the femur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005613","HPO_Synonym__c":"Absent/small thighbone; Absent/underdeveloped thighbone; Hypoplastic to absent femora; Hypoplastic/aplastic femora","HPO_Name__c":"Aplasia/hypoplasia of the femur","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:228930","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the ilium ala.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002866","HPO_Synonym__c":"Hypoplastic iliac alae; Hypoplastic iliac wings; Small iliac wings","HPO_Name__c":"Hypoplastic iliac wing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:228930","HPO_Frequency__c":"Frequent (30-79%)","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":"OMIM:228930","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the ulna.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006495","HPO_Synonym__c":"Absence/underdevelopment of inner forearm bone; Absent-hypoplastic ulnae; Absent/small ulna; Hypoplasia or unilateral/bilateral absence of ulna; Ulnar hypoplasia/aplasia","HPO_Name__c":"Aplasia/Hypoplasia of the ulna","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Otolaryngology","Pediatrics"],"Account":["Craniofacial Anomalies","Congenital limb malformation"]},"synonyms":["fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly"," fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome"," fuhrmann rieger de sousa syndrome"," fuhrmann-rieger-de sousa syndrome"]}