Prev
Next
Trisomy 18, Micrognathia, low set ears, rocker bottom feet, overlapping fingers
Learning difficulties, macroencephaly, long face, large ears, macro-orchidism, X-linked recessive
Webbed neck, pectus excavatum, short stature, pulmonary stenosis, Gestalt diagnosis
mirocephalic, small eyes, cleft lip/palate, polydactyly, scalp lesions, Trisomy 13
Micrognathia, posterior displacement of tongue, cleft palate
Loss of short arm of chr. 15. Major criteria - FTT, hypogonadism, central hypotonia, characteristic facial features including almond eyes
Short stature, learning difficulties, friendly/extrovert personality, transient neonatal hypercalcaemia, supraclavicular aortic stenosis, Deletion on chromosome 7
Mutations in TSC1, TSC2 cause tumour growth in brain and other organs. Mutations mostly occur de novo.
X-linked, causes uric acid overproduction, neurological dysfunction, and severe behavioural phenotype characterised by self-harm
Hypoparathyroidism, hypoplastic/absent thymus, conotruncal heart defect, cleft lip/palate. Deletion on chromosome 22
Deletion on chromosome 22. Hypoparathyroidism, hypoplastic/absent thymus, conotruncal heart defect, cleft lip/palate PLUS immunodeficiency
Comments