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Table 3 Severity of diagnosis in our sample

From: Daily life changes and adaptations investigated in 154 families with a child suffering from a rare disability at a public centre for rare diseases in Northern Italy

Severity of diagnosis
Mild Medium Severe
localized and limited esthetics • unlocalized
• costitutional
• no mental retardation
• health charging necessary and ongoing
• multiple malformation
• costitutional
• mental retardation
• health charging necessary and ongoing
Aarskog syndrome; Cutis laxa; EmiperHemihypertrophytrofia; Holt Oram syndrome; Poland syndrome; Silver Russel syndrome; Trisomy X (47,XXX); Ulnar-mammary syndrome. Achondroplasia; Bardet Biedl syndrome; Cerebral ventriculomegaly and aortic coarctation; Charge syndrome; Citrullinemia; Coloboma of iris associated with gastro-intestinal reflux and unilateral deafness; Crouzon syndrome; Deafness; Freeman Sheldon syndrome; Goldenhar syndrome; Gorlin syndrome; Hypochondroplasia; Kniest dysplasia; Leopard syndrome; Microdeletion 22q11.12; Mosaic variegated aneuploidy; Neurofibromatosis type 1; No diagnosis; Noonan syndrome; Paraparesis ataxic; Psychomotor retardation; Stickler syndrome; Syndrome polymalformative unknown; Treacher Collins syndrome; Tsukahara syndrome; Tuberous sclerosis; Wiskott Aldrich syndrome. Angelman syndrome; Autism; Cardiofaciocutaneous syndrome; Cockayne syndrome; Cohen syndrome; Congenital encephalopathy; Cornelia De Lange syndrome; Costello syndrome; Deletion 13p; Deletion 18q; Deletion 6p; Down syndrome; Duchenne muscular dystrophy; Fanconi Anemia; Fetopathy alcoholic; Frontofacial syndrome; Hallermann Streiff syndrome; Hallermann Streiff syndrome; Kabuki syndrome; Lujan Fryns syndrome; Marden Walker syndrome; Mowat Wilson syndrome; Mucopolysaccharidosis; Pontocerebellar hypoplasia type 2; Prader Willi syndrome; Proximal spinal muscular atrophy; Rubinstein-Taybi syndrome; Smith-Magenis syndrome; Sotos syndrome; Unspecific chromosome alteration; Williams syndrome.