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Differential Diagnosis For Craniofacial Abnormalities/Congenital: Congenital, Developmental Disorders


List of current finding(s):

Congenital, Developmental Disorders: next: Genetic Causes
Congenital disorders
Down's Syndrome
CHARGE Congenital syndrome
Hydrocephalus, obstructive
Cleft palate/palate incompetence
Cretinism, goitrous sporadic
Hydrocephalus, communicating
Congenital proptosis
Cri du Chat/Chromosome 5p (5p15.2)
Multiple lentigenes syndrome (congenit)
Thymic aplasia, congenital (DiGeorges)
Trisomy-21 partial translocation
Turner syndrome/Gonadal dysgenesis
Allan-Herndon Mental Retardation/X-linked
Kenny-Caffey syndrome/KCS (1q42-q43)
Shprintzen-Goldberg craniosynostosis syndrome (15q21.1)
Dandy-Walker anomaly/syndrome
Happy puppet syndrome/Angelman syndrome
Mulibrey Nanism syndrome
Acrocephalopolysyndactyly (Pfeiffer I)
Alagille/Arteriohepatic dysplasia syndr
Anencephaly/congenital syndrome
Bloom syndrome
Cerebral gigantism of childhood (Sotos)
Chondroectodermal dysp.(Ellis-Van Crev)
Chromosome ,long arm 21 deletion
Chromosome 4p-syndrome
Chromosome XXXXX Syndrome
Chromosome XXXXY Syndrome
Chromosome, long-arm 18 deletion synd
Chromosome, ring D syndrome
Congenital facial diplegia (Moebius)
Corpus callosum agenesis
Craniocarpotarsal Dystrophy (Freeman Sheldon)
Craniofacial dysostosis/Crouzon
De Lange syndrome
Dubowitz syndrome
Dysostosis, orofacial-digital
Dysplasia, craniometaphyseal
Dysplasia, spondyloepiphyseal/DMC disease
Goldenhar syndrome
Hallermann-Streiff-Francois syndrome
Jansen's metaphyseal chondrodysplasia (unco)
King Syndrome
Marshall syndrome
Microphthalmos, colobomatous
Miller-Dieker syndrome
Mohr syndrome
Noonan syndrome
Oculodentodigital dysplasia syndrome
Pallister Killian Mosaic Syndrome
Pierre Robin syndrome
Prader-Willi syndrome
Roaf's syndrome
Robinow dwarfing syndrome/mesomelic dys
Rubinstein-Taybi syndrome
Shawl scrotum syndrome
Silver-Russell syndrome
Smith Magenis syndrome
Sturge-Weber disease
Trichorhinophalangeal congenital synd
Trisomy 13 syndrome
Trisomy 20 syndrome
Trisomy-18 syndrome
Trisomy-8 syndrome
Trisomy-9 syndrome
Turner mosaic syndrome
Velocardiofacial (22q gene) syndrome
5q syndrome (5q31.1)
Acro-Facial dysostosis/Nager type
Bowen Conradi/Bowen Hutterite Syndrome
Carpenter Syndrome
CODAS Syndrome
Coffin-Lowry Syndrome
Curry-Jones Syndrome
Kaufman/VATER Syndrome
Metatropic dwarfism (Kneist Dysplasia)
Miller syndrome/Acrofacial dysostosis
Porteous Syndrome
Robert Syndrome
Weaver syndrome (Marshall-Smith)