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Differential Diagnosis For Short stature Child: Hereditary, Familial, Genetic Disorders


List of current finding(s):

Hereditary, Familial, Genetic Disorders: next: Degenerative-Age Related Causes
Hereditary disorder
Granulomatous dis/childhood, chronic
Osteopetrosis (Albers-Schonberg)
Thalassemia major
Agammaglobulinemia, x-linked, infantile
Pyruvate kinase deficiency RBC's
Sickle cell anemia
Achondrogenesis I/Parenti-Fraccaro
Cirrhosis/childhood Indian type
Cleidocranial digital dysostosis
Cystic fibrosis (mucoviscidosis)
Nephritis, hereditary (Alports)
Osteogenesis imperfecta
Jarcho-Levin Spondylocostal dysplasia Syndrome
Johanson Blizzard genetic syndrome (unco)
Juberg Marsidi Genetic syndrome (unco)
Marinesco Sjogren syndrome
Mitochondrial myopathy/MERRF
Myhre Syndrome
Pitt syndrome (4p16.3)
Weill-Marchesani syndrome
Zellweger Cerebrhepatorenal syndrome
Achondrogenesis II/Langer-Saldino
Acrocephalosyndactyly type III syndrome
Bartter's syndrome
Bird-headed dwarf of Seckel
Chondrodysplasia punctata/calcificans (Conradi)
Cockayne syndrome
Dolichospondylic dysplasia
Dysautonomia, familial
Fanconi's pancytopenia-dysmelia synd
Hypophosphatemia, familial
Maffucci syndrome
Metaphyseal chondrodysplasia
Oculocerebrorenal dystrophy/Lowe syndrome
Osteodysplasia, familial (Melnick Needles)
Schwartz-Jampel syndrome
Scott's Craniodigital syndrome
SHORT syndrome (Rieger anomaly plus)
Shwachman (Shwachman-Diamond) syndrome
Sjogren-Larsson syndrome
Spondylometaphyseal dysplasia syndrome
Thalassemia-hemoglobin C disease
Williams syndrome/Elfin facies
Winchester syndrome
Brooks syndrome
Chromosome 20 deletion/Ring syndrome
Chudley Syndrome 1
Curran acrorenal syndrome
Familial Vitamin D dependent Rickets
Kabuki make-up syndrome
MASA Syndrome
Reiger Syndrome
Say Syndrome 1
Segawa Syndrome/Infant Parkinsonism