Phenotypes Overview

Cornelia de Lange syndrome Angelman syndrome  Lesch-Nyhan syndrome  Cri du Chat syndrome  Rett syndrome  Prader-Willi syndrome
Prevalence1 in 50,000 81 in 12-25,000 17, 18.1 in 380,000 28.1 in 50,000 201 in 10-15000 33.1 in 16,000 40.
Genetic Anomalychange in one of these genes affects what is known as the cohesin protein complexChromosome 15, location q11-q13 19.Chromosome X, location q26-27, males only 29.Chromosome 5, location 5p1524.Chromosome X, location q28 females only 34.deficient expression of paternally expressed imprinted genes at 15q11-13, minimal region of deletion between loci D15S13 and D15S10 41
Physical Features Low birth weight, delayed growth, thin down-turned lips, long eyelashes, confluent eyebrows, limb abnormalities 11, 12.Low-birth weight, jerky movements, long face, prominent jaw, wide mouth, widely spaced teeth, protruding tongue, deep set eyes 20Delayed motor development, hypotonia, feeding difficulties, low height and weight, microcephaly, seizures, urinary infections 30. Cat-like cry, a round face with epicanthal folds, down-slanting palpebral fissures, low-set malformed ears, growth delay.26Breathing dysfunction, ECG abnormalities, growth retardation, seizures, scoliosis, deceleration in head growth and loss of facial expression 35, 36.Short stature with small hands and feet and scoliosis. Facial features include almond shaped eyes, thin upper lip, triangular shape mouth and a narrow nose 42.
Behavioural Phenotype Intellectual disability, poor communication, self-injury, aggression, hyperactivity, compulsive behaviour, stereotyped behaviour, and “autistic like” behaviour 13, 14, 15, 16.Severe intellectual disability, happy demeanour, mouthing objects, sleeping problems, feeding problems, hyperactivity, inattention, and hand flapping 21, 22, 23, 24Intellectual disability, motor delay, choreoathetosis, cerebral palsy, “compulsive” self-injurious behaviour and physical aggression 31, 32.Severe intellectual disabilities, motor and language delay, hyperactivity, hypersensitivity to sensory stimuli, self-injurious behaviour and obsessional behaviour 26, 27, 28.Normal development, followed by deterioration of skills and severe intellectual disability, autistic-type behaviour, repetitive hand movement and anxiety 37, 38, 39.Mild to moderate intellectual disability, hyperphagia tantrums, obsessive and compulsive behaviours 42, 43, 44.
Chris Oliver

by Chris Oliver Jo Moss Jane Petty Kate Arron Jenny Sloneem Scott Hall

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Last modified by Gerritjan Koekkoek on 2021/05/23 15:26
Created by Gerritjan Koekkoek on 2021/05/23 15:13

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