7/4/23, 12:04 AM Short stature Pathway Feedback Search Clinical Topics Home Findings Short stature Short stature More common causes Kwashiorkor Tonsillitis Ascariasis Urinary tract infection Intrauterine growth restriction Osteomalacia Malnutrition Asthma Child abuse Bronchiectasis Chronic kidney disease Choledochal cyst Congenital hypothyroidism Hydrocephalus Precocious puberty Sexual abuse Fanconi's anemia Marasmus Less common causes https://web.pathway.md/findings/rechPWHnlxnvhVbvc 1/5 7/4/23, 12:04 AM Short stature Pathway Abetalipoproteinemia Patent ductus arteriosus Osteogenesis imperfecta Cystic fibrosis Disproportionate short stature Celiac disease Sickle cell disease Classic congenital adrenal hyperplasia due to 21- hydroxylase deficiency Type 1 primary autosomal recessive microcephaly Pseudopseudohypoparathyroidism Diabetes mellitus type 1 Glycogenosis type 1A Cystinosis Constitutional delay of growth and puberty Familial short stature Gaucher's disease Tetralogy of Fallot Maple syrup urine disease Mucopolysaccharidosis VII Mitochondrial encephalopathy / lactic acidosis and stroke-like episodes Niemann-Pick disease type B Menkes disease Histiocytosis X Leri-Weill dyschondrosteosis Hemoglobin E disease X-linked hypophosphatemia Pelizaeus-Merzbacher disease https://web.pathway.md/findings/rechPWHnlxnvhVbvc 2/5 7/4/23, 12:04 AM Short stature Pathway Acrodermatitis enteropathica Tyrosinemia type 1 Xeroderma pigmentosum Cleidocranial dysplasia Heterozygous beta thalassemia Short chain acyl-CoA dehydrogenase deficiency Uncommon causes Pyknodysostosis Progressive familial intrahepatic cholestasis type 1 Hyaline fibromatosis syndrome Leukotriene C4 synthase deficiency Iduronate-2-sulfatase deficiency Mevalonate kinase deficiency Russell-Silver dwarfism Congenital disorder of glycosylation type 1c Aspartylglucosaminuria Proportionate short stature Isobutyryl-CoA dehydrogenase deficiency Mucolipidosis III alpha/beta Corpus callosum hypoplasia Carbamoylphosphate synthetase deficiency Glycerol kinase deficiency Mucolipidosis III gamma Dolichol kinase deficiency Cholesterol ester storage disease Glycine decarboxylase deficiency https://web.pathway.md/findings/rechPWHnlxnvhVbvc 3/5 7/4/23, 12:04 AM Short stature Pathway Aspartoacylase deficiency Type 1 GM1 gangliosidosis Tricho-thiodystrophy Fucosidosis Galactosialidosis S-adenosylhomocysteine hydrolase deficiency Congenital disorder of glycosylation type 1a Mucolipidosis II alpha/beta Mucopolysaccharidosis IX Periodic hyperlysinemia Combined malonic and methylmalonic aciduria Combined D-2- and L-2-hydroxyglutaric aciduria Methylmalonic acidemia and homocystinuria / cblD type Chylomicron retention disease Progressive pseudorheumatoid dysplasia Autosomal dominant pseudohypoaldosteronism type 1 Poikiloderma with neutropenia Type 1 GM2 gangliosidosis Hereditary sensory and autonomic neuropathy type 3 Adiposogenital dystrophy Cranioectodermal dysplasia Adenylosuccinate lyase deficiency Galactosamine-6-sulfatase deficiency Geroderma osteodysplastica Nonbullous congenital ichthyosiform erythroderma Galactose epimerase deficiency Pseudohypoparathyroidism type 1a https://web.pathway.md/findings/rechPWHnlxnvhVbvc 4/5 7/4/23, 12:04 AM Short stature Pathway Complement hyperactivation angiopathic thrombosis and protein-losing enteropathy Methylmalonic acidemia and homocystinuria / cblC type Geleophysic dysplasia Premature labour and/or delivery Trypsinogen deficiency Ornithine carbamyltransferase deficiency Carbonic anhydrase type 2 deficiency Succinyl-CoA synthetase deficiency Arginine:glycine amidinotransferase deficiency Fibrochondrogenesis Hereditary orotic aciduria Neurodevelopmental disorder with or without anomalies of brain / eye / or heart D-glycerate kinase deficiency Hyperostosis corticalis deformans juvenilis UNC80 deficiency Craniomandibular dermatodysostosis Desmosterolosis 3-hydroxyisobutyric aciduria Aminomethyltransferase deficiency Autosomal recessive pseudohypoaldosteronism type 1 Acrofacial dysostosis / Richieri Costa Guion-Almeida type Combined pituitary hormone deficiency 5 (HESX1 gene) https://web.pathway.md/findings/rechPWHnlxnvhVbvc 5/5