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Differential Diagnosis For Facies particular: Congenital, Developmental Disorders


List of current finding(s):

Congenital, Developmental Disorders: next: Genetic Causes
Down's Syndrome
CHARGE Congenital syndrome
Cretinism, goitrous sporadic
Congenital proptosis
Cri du Chat/Chromosome 5p (5p15.2)
Thymic aplasia, congenital (DiGeorges)
Thymus hypoplasia/DiGeorge syndrome
Turner syndrome/Gonadal dysgenesis
Shprintzen-Goldberg craniosynostosis syndrome (15q21.1)
Happy puppet syndrome/Angelman syndrome
Mulibrey Nanism syndrome
Alagille/Arteriohepatic dysplasia syndr
Bloom syndrome
Cerebral gigantism of childhood (Sotos)
Chromosome 4p-syndrome
Corpus callosum agenesis
Craniocarpotarsal Dystrophy (Freeman Sheldon)
Craniofacial dysostosis/Crouzon
De Lange syndrome
Dysplasia, craniometaphyseal
Hallermann-Streiff-Francois syndrome
Jansen's metaphyseal chondrodysplasia (unco)
King Syndrome
Larsen Dysmorphic Syndrome
Marshall syndrome
Miller-Dieker syndrome
Mohr syndrome
Noonan syndrome
Pallister Killian Mosaic Syndrome
Pierre Robin syndrome
Prader-Willi syndrome
Progeria/adult (Werners syndrome)
Roaf's syndrome
Rubinstein-Taybi syndrome
Silver-Russell syndrome
Smith Magenis syndrome
Trichorhinophalangeal congenital synd
Turner mosaic syndrome
Velocardiofacial (22q gene) syndrome
5q syndrome (5q31.1)
Cohen Syndrome
Foix-Chavany-Marie Syndrome
Metatropic dwarfism (Kneist Dysplasia)
Porteous Syndrome