Phenotypes Overview
| Cornelia de Lange syndrome | Angelman syndrome | Lesch-Nyhan syndrome | Cri du Chat syndrome | Rett syndrome | Prader-Willi syndrome | |
|---|---|---|---|---|---|---|
| Prevalence | 1 in 50,000 8 | 1 in 12-25,000 17, 18. | 1 in 380,000 28. | 1 in 50,000 20 | 1 in 10-15000 33. | 1 in 16,000 40. |
| Genetic Anomaly | change in one of these genes affects what is known as the cohesin protein complex | Chromosome 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 20. | Delayed 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.26 | Breathing 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, 24 | Intellectual 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. |
Source:
on behalf of the Cornelia de Lange Syndrome Foundation, published on 20 jun. 2003
Senest ændret af Gerritjan Koekkoek den 2021/05/23 15:26
Oprettet af Gerritjan Koekkoek den 2021/05/23 15:13
