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 |