Silver Russell Syndrome
Orpha code: 813 ICD code: Q87.1
Silver-Russell syndrome is characterised by growth retardation with antenatal onset, characteristic facies and limb asymmetry. Weight is often more affected than size, with little subcutaneous fat tissue. Bone maturation is delayed, in accordance with small stature. The fontanelle may be late to close. The skull has a normal circumference, which may contrast with the rest of the body and confers a pseudohydrocephalic appearance. The wide prominent forehead contrasts with the small, triangular face with a small pointed chin, a wide mouth with thin lips and down-turned corners, large eyes and bluish sclera.
Beckwith Wiedemann Syndrome
Orpha code: 116 ICD code: Q87.3
Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterised by overgrowth, tumor predisposition and congenital malformations. Patients tend to grow at an increased rate during the 2nd half of pregnancy and in the first few years of life; adult heights are typically in the normal range.
Orpha code:648ICD code:Q87.1
Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hypertrophic cardiomyopathy. Other associated features are webbed neck, chest deformity, mild intellectual deficit, cryptorchidism, poor feeding in infancy, bleeding tendency and lymphatic dysplasia.
Obesity & Metabolism
Prader Willi Syndrome and Prader Willi like syndrome
Orpha code: 739 ICD code: Q87.1
Prader-Willi syndrome is a rare genetic disorder characterised by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems. The severe hypotonia at birth, which leads to suckling and swallowing problems and delayed psychomotor development, partially improves with age. Characteristic facial features (a narrow forehead, almond-shaped eyes, a thin upper lip and down-turned mouth), as well as very small hands and feet, are frequently observed.
Orpha code: 77828
Genetic obesity disorders are severe and disabling disorders with a variety of accompanying symptoms or features. These disorders are rare to extremely rare and can be difficult to diagnose. Genetic obesity disorders are more often diagnosed in children than in adult patient groups. Genetic obesity reflects a heterogeneous group of conditions. They are classically divided into non-syndromic and syndromic obesity. Non-syndromic genetic obesity disorders are often caused by a single gene defect leading to defective leptin-melanocortin pathway. Severe obesity classically presents in the first years of life. Syndromic genetic obesity differs from non-syndromic, as they have additional symptoms, apart from obesity, like neurodevelopmental disorders and/or polymalformative syndrome.