Create issue ticket

67 Possible Causes for Partial Preaxial Polydactyly

  • Kohlschütter-Tönz Syndrome

    Arachnoid cyst Anencephaly Partial agenesis of the corpus callosum Prominent occiput External genital hypoplasia Molar tooth sign on MRI Preaxial polydactyly Clinodactyly[mendelian.co] […] morphology Triangular mouth Hypoplasia of teeth Hypopigmentation of the fundus Diastasis recti Rectovaginal fistula Diabetes insipidus Abnormality of digit Postaxial foot polydactyly[mendelian.co]

  • Acro-Pectoral Syndrome

    […] duplication of thumb phalanx 33 HP:0009944 9 preaxial polydactyly 33 HP:0100258 Symptoms via clinical synopsis from OMIM: 58 Skeletal Hands: triphalangeal thumb preaxial[malacards.org] […] duplication of thumb phalanx Partial duplication of the thumb bones 0009944 Pectus carinatum Pigeon chest 0000768 Pectus excavatum Funnel chest 0000767 Preaxial polydactyly[rarediseases.info.nih.gov] Hand and foot photographs of (A) V.34, (B) VI.21, and (C) V.58, showing partial or complete skin syndactyly between all digits of all four limbs, preaxial polydactyly in the[doi.org]

  • Branchio-Oculo-Facial Syndrome

    Preaxial polydactyly and white forelock were described in two cases of BOFS. Intelligence is normal, but speech is hypernasal.[orpha.net] One patient had, in addition to the typical features of BOFS, partial agenesis of the cerebellar vermis, while two sibs with this syndrome also had orbital hemangiomatous[orpha.net]

  • Polydactyly

    polydactyly Preaxial polydactyly type I Complete or partial duplication of a normal biphalangeal thumb Varies from extra phalanx to complete hypoplastic thumb May cause broadening[en.wikibooks.org] ) Polydactyly of the foot.[wheelessonline.com] […] common in African-Americans than Caucasians Unilateral in 2/3 of cases, affects left side twice as commonly as right Autosomal dominant inheritance with reduced penetrance Preaxial[en.wikibooks.org]

  • Leydig Cell Hypoplasia due to LHB Deficiency

    polydactyly LMBR1 Mandibuloacral dysplasia LMNA Cardiac conduction defects LMNA Charcot-Marie-Tooth disease 2 LMNA Partial lipodystrophy, Dunnigan LMNA Muscular dystrophy[springer.com] […] lipase deficiency LIPC Hyperlipidaemia LIPC Adiposity, severe LIPC Charcot-Marie-Tooth disease 1c LITAF Factor V and factor VIII deficiency, combined LMAN1 Acheiropodia LMBR1 Preaxial[springer.com]

  • Polydactyly of a Biphalangeal Thumb

    polydactyly Preaxial polydactyly type I Complete or partial duplication of a normal biphalangeal thumb Varies from extra phalanx to complete hypoplastic thumb May cause broadening[en.wikibooks.org] […] common in African-Americans than Caucasians Unilateral in 2/3 of cases, affects left side twice as commonly as right Autosomal dominant inheritance with reduced penetrance Preaxial[en.wikibooks.org]

  • Hemimelia

    Brief clinical report: unilateral partial tibia defect with preaxial polydactyly, general micromelia, and trigonomacrocephaly with a note on “developmental resistance”.[link.springer.com]

  • Craniosynostosis Type 3

    […] syndactyly in the hands and preaxial polydactyly with partial syndactyly in the feet.[rrnursingschool.biz] […] hy-poplasia; shallow supraorbital ridges; flat nasal bridge; lateral displacement of inner canthi; ocular and ear defects; and limb anomalies including brachydactyly with partial[rrnursingschool.biz]

  • Frontonasal Dysplasia

    Left hand had a preaxial polydactyly. Amniocentesis was performed with a normal karyotype, 46 XY. DNA microarray was done in Canada with normal result.[sonoworld.com] The cleft involved lip, maxilla, nose, forehead and partially orbit as well. There was a cardiac anomaly, suspicious of Tetralogy of Fallot.[sonoworld.com]

  • Isolated Trigonocephaly

    […] syndactyly in the hands and preaxial polydactyly with partial syndactyly in the feet.[rrnursingschool.biz] […] hy-poplasia; shallow supraorbital ridges; flat nasal bridge; lateral displacement of inner canthi; ocular and ear defects; and limb anomalies including brachydactyly with partial[rrnursingschool.biz]

Further symptoms