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Seckel syndrome Classification & external resources
Seckel syndrome or is a microcephalic primordial dwarfism congenital nanosomic disorder supposed to be caused by defects of genes on and chromosome 3 18. One form of Seckel syndrome can be caused by mutation in the gene encoding ataxia-telangiectasia and RAD3-related protein ( ATR) which maps to chromosome 3q22.1-q24. This gene is central in the cell's DNA damage response and repair mechanism.
Additional recommended knowledge
severe mental retardation (more than half of the patients have an IQ below 50)
low birth weight
dislocations of pelvis and elbow
unusually large eyes
Phakomatoses and other congenital malformations not elsewhere classified ( Q85-Q89, 759) Phakomatoses Neurofibromatosis ( type I, type II) - Tuberous sclerosis - Peutz-Jeghers syndrome - Sturge-Weber syndrome - Von Hippel-Lindau disease - Incontinentia pigmenti - Ataxia telangiectasia Due to known exogenous causes Fetal alcohol syndrome - Phocomelia (via Thalidomide) Affecting multiple systems facial ( Mobius syndrome, Goldenhar syndrome, Cyclopia, Apert syndrome)
short stature ( Aarskog-Scott syndrome, Cockayne syndrome, Cornelia de Lange Syndrome, Dubowitz syndrome, Noonan syndrome, Robinow syndrome, Silver-Russell dwarfism, Seckel syndrome, Smith-Lemli-Opitz syndrome)
limbs ( Holt-Oram syndrome, Klippel-Trenaunay-Weber syndrome, Nail-patella syndrome, Rubinstein-Taybi syndrome, Sirenomelia, VACTERL association)
overgrowth (Beckwith-Wiedemann syndrome, Sotos syndrome, Weaver syndrome)
Marfan syndrome - Alport syndrome - Bardet-Biedl syndrome - Zellweger syndrome Other spleen: Asplenia - Splenomegaly
endocrine glands: Persistent thyroglossal duct - Thyroglossal cyst
Situs inversus - Conjoined twins
Cowden syndrome - Hamartoma
This article is licensed under the
GNU Free Documentation License. It uses material from the Wikipedia article "Seckel_syndrome". A list of authors is available in Wikipedia.
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