Table 1 Clinical features of the distal chromosome 6p duplication syndrome
From: Glomerulopathy in patients with distal duplication of chromosome 6p
Perinatal period: IUGR, general hypotonia, feeding problems, pre- and post-natal growth retardation, |
Congenital defects: Brain malformations (cerebellal hypothrophy, hypoplastic corpus callosum, hypothalamic hamartoma, hydrocephalus internus) Heart defects (PDA, ASD, VSD, postvalvular (peripheral) pulmonary stenoses, ventricular hypertrophy, tetralogy of Fallot) GI malformations (choanal atresia, anal atresia, diaphragmatic hernia) CAKUT (kidney hypoplasia, kidney aplasia, ectopic kidneys, hydronephrosis, vesico-ureteral reflux, horseshoe kidney, cystic abnormality of Potter) |
Craniofacial abnormalities (dysmorphy) Skull (facial asymmetry, craniosynostosis, frontal bossing, flat occiput) Eye (palpebral ptosis, blepharophimosis, hypotelorism, microophtalmia) Ear (low-set, malformed lobes, thick helices, malformed pinnae) Nose (prominent nasal bridge, short nose, tiny nares) Mouth (small, thin lips; long flat philtrum, high arched palate, small pointed chin, micrognathia, gingival hypertrophy) |
Neurological signs Developmental delay Intellectual disability (moderate to severe) Seizures Behavioral problems (autism-spectrum disorders, gentle personality, recurrent laughing spells, low frustration tolerance) Vision problems (nystagmus, strabismus, cataracts, microcorneas, myopia, retinal pigmentary dystrophy, persistent hyperplastic primary vitreous with retinal detachment) Hearing loss |
Other Proteinuria/glomerulopathy Growth retardation (proportional microsomy) Recurrent infections Immunodeficiency Skin pigmentary anomalies, capillary hemangiomas |