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527 Possible Causes for Syndactyly (2-5

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  • Growth Failure

    3 toe syndactyly, sandal gap (2.25) (30.8) (39) (98) F10 M 37 4.0 5.33 3m 10.1 8.4 N/A Pre-axial polydactyly 2/5 toe syndactyly, dysplastic kidney and dysgenesis of corpus[ncbi.nlm.nih.gov] (27.5) (38.8) (79) F8 F 34 2.93 N/A 1y9m 9.6 6.2 Mild None (1.23) (37) (65) F9 M 37 1.4 1.6 5y6m 10.8 2.9 Mild Hypopigmentation, hypermobile knees, single palmar crease, 2[ncbi.nlm.nih.gov]

  • Familial Hypercholesterolemia

    Cenani Lenz Type 3 Syndactyly Type 5 1 Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction 2 Synpolydactyly 1 2 Synpolydactyly 2 2 Systemic Carnitine Deficiency 4[preventiongenetics.com] 3 Surfactant Metabolism Dysfunction, Pulmonary, 3 3 Surfactant Metabolism Dysfunction, Pulmonary, 5 2 Sveinsson Chorioretinal Atrophy 1 Symphalangism, Proximal, 1B 1 Syndactyly[preventiongenetics.com] Deficiency 1 Supranuclear Palsy, Progressive, 1 1 Supravalvar Aortic Stenosis 2 Surfactant Metabolism Dysfunction, Pulmonary, 1 3 Surfactant Metabolism Dysfunction, Pulmonary, 2[preventiongenetics.com]

  • Dilated Cardiomyopathy Type 2B

    Cenani Lenz Type 3 Syndactyly Type 5 1 Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction 2 Synpolydactyly 1 2 Synpolydactyly 2 2 Systemic Carnitine Deficiency 4[preventiongenetics.com] 3 Surfactant Metabolism Dysfunction, Pulmonary, 3 3 Surfactant Metabolism Dysfunction, Pulmonary, 5 2 Sveinsson Chorioretinal Atrophy 1 Symphalangism, Proximal, 1B 1 Syndactyly[preventiongenetics.com] Deficiency 1 Supranuclear Palsy, Progressive, 1 1 Supravalvar Aortic Stenosis 2 Surfactant Metabolism Dysfunction, Pulmonary, 1 3 Surfactant Metabolism Dysfunction, Pulmonary, 2[preventiongenetics.com]

  • Syndactyly

    1-5 finger complete cutaneous syndactyly 2-3 finger syndactyly 2-3 toe cutaneous syndactyly 2-3 toe syndactyly 2-4 finger syndactyly 2-4 toe cutaneous syndactyly 2-4 toe[mousephenotype.org] Image 1. 3 cases of syndactyly between 2 and 3 toes. Image 5. 2 cases of syndactyly between 1 and 2 toes.[en.atlaseclamc.org] Overriding fingers 2 and 3, simulate a fenestrated syndactyly. 3. Fusion of fingers 2-3-4-5. incomplete, with webbing.[en.atlaseclamc.org]

  • Long QT Syndrome

    The TS is an extremely rare variant characterized by marked QT prolongation associated with syndactyly and often presenting with 2:1 functional atrioventricular block and[ahajournals.org] […] event-free survival comparing Jervell and Lange-Nielsen syndrome (J-LN) patients with long-QT (LQT) syndrome type 1, LQT2, and LQT3 symptomatic patients (modified from Ref 5)[ahajournals.org]

  • Protuberant Ears

    […] between fingers 2 and 5 Unknown Brachydactyly Yes Neurological Developmental delay/mental retardation Yes Central nervous system malformation No Corpus callosum Unknown Sensorineural[coriell.org] […] mouth Yes Protuberant ears Yes Skeletal Short stature No Multiple exostoses Yes If yes, give age at detection in years 1.5 Scoliosis No Osteochondroma No Limbs Cutaneous syndactyly[coriell.org]

  • Young Adult-Onset Distal Hereditary Motor Neuropathy

    […] benign familial infantile, 1 Osteogenesis imperfecta type IX Muckle-Wells syndrome ALG11-CDG (CDG-Ip) Madokoro Ohdo Sonoda syndrome Immunodeficiency with hyper IgM type 2[checkrare.com] […] type 5 Autism with port-wine stain Isodicentric chromosome 15 syndrome Pili annulati WHIM syndrome Semantic dementia Craniosynostosis Larynx, congenital partial atresia of[checkrare.com] […] autonomic neuropathy type V Arthrogryposis and ectodermal dysplasia Microcephaly cervical spine fusion anomalies Neuroferritinopathy Ataxia - hypogonadism - choroidal dystrophy Syndactyly[checkrare.com]

  • Bjornstad Syndrome

    […] dysplasia COL2A1 Stiff skin syndrome FBN1 Stuve-Wiedemann syndrome LIFR Syndactyly type 1 HOXD13 Syndactyly type 5 HOXD13 Syndactyly, mesoaxial synostotic, with phalangeal[centogene.com] TBX6 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures B3GALT6 Spondylo-megaepiphyseal-metaphyseal dysplasia NKX3-2 Spondyloperipheral[centogene.com] […] folate sensitive MTRR Split-hand/foot malformation type 1 with sensorineural hearing loss DLX5 Split-hand/foot malformation type 6 WNT10B Spondylocostal dysostosis type 5[centogene.com]

  • Stiff Skin Syndrome

    […] dysplasia COL2A1 Stiff skin syndrome FBN1 Stuve-Wiedemann syndrome LIFR Syndactyly type 1 HOXD13 Syndactyly type 5 HOXD13 Syndactyly, mesoaxial synostotic, with phalangeal[centogene.com] TBX6 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures B3GALT6 Spondylo-megaepiphyseal-metaphyseal dysplasia NKX3-2 Spondyloperipheral[centogene.com] […] folate sensitive MTRR Split-hand/foot malformation type 1 with sensorineural hearing loss DLX5 Split-hand/foot malformation type 6 WNT10B Spondylocostal dysostosis type 5[centogene.com]

  • Familial Pterygium of the Conjunctiva

    […] benign familial infantile, 1 Osteogenesis imperfecta type IX Muckle-Wells syndrome ALG11-CDG (CDG-Ip) Madokoro Ohdo Sonoda syndrome Immunodeficiency with hyper IgM type 2[checkrare.com] […] type 5 Autism with port-wine stain Isodicentric chromosome 15 syndrome Pili annulati WHIM syndrome Semantic dementia Craniosynostosis Larynx, congenital partial atresia of[checkrare.com] […] autonomic neuropathy type V Arthrogryposis and ectodermal dysplasia Microcephaly cervical spine fusion anomalies Neuroferritinopathy Ataxia - hypogonadism - choroidal dystrophy Syndactyly[checkrare.com]

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