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]