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Table 1 Clinical and genetic diagnosis of 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

Diagnosis Number Percent
Without specific diagnosis 20 12,9
Neurofibromatosis type 1 13 8,4
Williams syndrome 12 7,8
Hemihypertrophy 11 7,1
Cornelia De Lange syndrome 8 5,2
Achondroplasia 7 4,5
Microdeletion 22q11.12 5 3,2
Down syndrome 4 2,6
Rubinstein-Taybi syndrome 4 2,6
Hypochondroplasia 3 1,9
Syndrome unknown 3 2,9
Charge syndrome 2 1,3
Gorlin syndrome 2 1,3
Kabuki syndrome 2 1,3
Leopard syndrome 2 1,3
Noonan syndrome 2 1,3
Poland syndrome 2 1,3
Proximal spinal muscular atrophy 2 1,3
Psychomotor retardation 2 1,3
Silver Russel syndrome 2 1,3
Aarskog syndrome
Angelman syndrome
Autism
Bardet Biedl syndrome
Cardiofaciocutaneous syndrome
Cerebral ventriculomegaly and aortic coarctation
Citrullinemia
Cockayne syndrome
Cohen syndrome
Coloboma of iris associated with gastro-intestinal reflux and unilateral deafness
Congenital encephalopathy
Costello syndrome
Crouzon syndrome
Cutis laxa
Deafness
Deletion 13p
Deletion 18q
Deletion 6p
Duchenne muscular dystrophy
Fanconi Anemia
Fetopathy alcoholic
Freeman Sheldon syndrome
Frontofacial syndrome
Goldenhar syndrome
Hallermann Streiff syndrome
Holt Oram syndrome
Kniest dysplasia
Lujan Fryns syndrome
Marden Walker syndrome
Mosaic variegated aneuploidy
Mowat Wilson syndrome
Mucopolysaccharidosis
Paraparesis ataxic
Pontocerebellar hypoplasia type 2
Prader Willi syndrome
Smith-Magenis syndrome
Sotos syndrome
Stickler syndrome
Syndrome polymalformative unknown
Treacher Collins syndrome
Trisomy X (47,XXX)
Tsukahara syndrome
Tuberous sclerosis
Ulnar-mammary syndrome
Unspecific chromosome alteration
Wiskott Aldrich syndrome
1 0,6