Syndrome | Main extrarenal manifestations |
Ehlers-Danlos | Joint hyperextensibility, increased stretchability of skin |
Elejalde | Acrocephalopolydactylous dysplasia |
Ellis-van Creveld | Chondroectodermal dysplasia |
Geominne | Torticollis, multiple keloids, cryptorchidism |
Goldston | Dandy-Walker malformation, cerebellar malformations |
Ivemark | Spleen agenesis, cyanotic heart disease, gut malrotation |
Jeune | Asphyxiating thoracic dystrophy, short limb dwarfism, hypoplastic iliac wings |
Laurence-Moon-Bardet-Biedl | Mental retardation, obesity, polydactyly, retinopathy |
Meckel-Gruber | Posterior encephalocoele, cleft palate, polydactyly |
Melnick-Fraser | Branchial fistulas, preauricular pits, hearing loss |
Papillon-Leage-Psaume | Oral frenula, cleft tongue, digital malformations |
Passarge | Hypotonia, abnormal ears, hepatomegaly |
Roberts | Tetraphocomelia, cleft lip, genital hypertrophy |
Trisomy 13 (Patau) | Microcephaly, cleft lip, digital anomalies, mental retardation |
Trisomy 18 (Edwards) | Overlapping fingers, foot deformities, muscular hypertonicity, neonatal hepatitis |
Trisomy 21 (Down) | Brachycephaly, epicanthal folds, hypotonia, congenital heart disease |
Zellweger | Brain malformations, craniofacial dysmorphism, limb deformities, metabolic defect |
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