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Malformative disorders associated with renal cyst formation

Malformative disorders associated with renal cyst formation
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
Cyst_malformations.htm
Extrarenal manifestations of the major malformative syndromes associated with renal cyst formation.
Graphic 82584 Version 1.0

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