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Differential Diagnosis For Dysmorphic appearance/face, Slate gray pigmentations: Congenital, Developmental Disorders


List of current finding(s):

Congenital, Developmental Disorders: next: Genetic Causes
Congenital disorders
Down's Syndrome
Cretinism, goitrous sporadic
Renal tubular acidosis
Blue nevus
Congenital proptosis
Cri du Chat/Chromosome 5p (5p15.2)
Klinefelter mosaicism syndrome
Klinefelter's syndrome
Trisomy-21 partial translocation
Turner syndrome/Gonadal dysgenesis
Kenny-Caffey syndrome/KCS (1q42-q43)
Shprintzen-Goldberg craniosynostosis syndrome (15q21.1)
Mulibrey Nanism syndrome
Acrocephalopolysyndactyly (Pfeiffer I)
Anetoderma/osteogenesis imperfecta (Blegvad-Haxthausen)
Bloom syndrome
Campomelic dwarfism
Cerebral gigantism of childhood (Sotos)
Chromosome 4p-syndrome
Craniofacial dysostosis/Crouzon
Diastrophic dwarfism
Dubowitz syndrome
Dwarfism, ateliotic
Dyschondrosteosis, Leri-Weill type
Dysostosis multiplex
Dysostosis, orofacial-digital
Jansen's metaphyseal chondrodysplasia (unco)
Laron dwarfism/GH receptor defect
Marshall syndrome
Miller-Dieker syndrome
Mohr syndrome
Noonan syndrome
Oculodentodigital dysplasia syndrome
Pallister Killian Mosaic Syndrome
Parastremmatic dwarfism
Pierre Robin syndrome
Pleonosteosis, Leri type
Prader-Willi syndrome
Robinow dwarfing syndrome/mesomelic dys
Silver-Russell syndrome
Smith Magenis syndrome
Spondylocostal dysostosis
Thanatophoric dwarfism
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)
Cohen Syndrome
Foix-Chavany-Marie Syndrome
Metatropic dwarfism (Kneist Dysplasia)