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127 Possible Causes for Cafe-Au-Lait Spots, Pallor, Short Stature in Children

  • Russell-Silver Syndrome

    […] extremely short stature and body and facial asymmetry, excessive sweating, a small triangular face which makes the skull look large by comparison, inward curved fingers, cafe-au-lait[] Nocturnal sweating was the commonest symptom (23.96%), followed by irritability (11.46%), tantrums (7.29%), pallor and shakiness (3.13%).[] Russell-Silver syndrome (RSS) is characterized by slow growth both in utero and after birth, short stature, and specific facial features.[]

  • Bloom Syndrome

    Bloom syndrome is a rare autosomal recessive disorder characterized by short stature, brachydactyly, malar hypoplasia and facial telangiectasia, erythema and cafe au lait[] […] for signs/symptoms incl hematuria & a painless abdominal mass Every 3 mos from time of diagnosis to age 8 yrs Leukemia Screening & family education on signs/symptoms incl pallor[] It is marked by growth retardation, microcephaly, short stature, characteristic facial features, skin eruptions, and mild to severe mental retardation [ 1 ].[]

  • Congenital Aplastic Anemia

    […] anemia Cause is chromosome breakage and defective repair Autosome recessive, few X-linked recessive Pancytopenia is seen first decade of life Congenital abnormalities – cafe-au-lait[] Low counts of red blood cells bring about anemia and cause fatigue, weakness and pallor.[] For example, children with Fanconi anemia may have abnormalities of the upper extremities, characteristic facies, short stature, and cafe-au-lait lesions.[]

  • Neurofibromatosis Type 1

    Von Recklinghausen's disease or neurofibromatosis 1 is an autosomal dominant disorder with multiple neurofibromas and schwannomas, along with cafe au lait spots and axillary[] Physical findings include visual loss, loss of color vision, an afferent pupillary defect, and optic nerve pallor or atrophy.[] Rarely, coronary artery aneurysms are identified in symptomatic or even asymptomatic individuals with NF1. [14] Short stature is common in NF1; affected individuals are often[]

  • Gaucher Disease

    […] reactions, occurring in 2 or more patients, included abdominal pain, agitation, fever, chills, diarrhea, eczema, edema, hypertension, irritability, laryngeal edema, nausea, pallor[] Children with massive splenomegaly may be short in stature because of the energy expenditure required by the enlarged organ.[] [] Children with massive splenomegaly may be short in stature because of the energy expenditure required by the enlarged organ.[]

  • Mucopolysaccharidosis 2

    The signs and symptoms may include abnormal facial features, cloudy corneas, abnormal development of spine, heart valve defects, and short stature in children A healthcare[] MPS IIA Common presenting signs and symptoms in children with classic MPS IIA include progressive coarsening of facial features, short stature, joint stiffness, hepatosplenomegaly[] Children with MPS II grow steadily until about age 5, and then their growth slows and they develop short stature.[]

  • Noonan Syndrome

    In addition, LEOPARD syndrome is confused with Neurofibromatosis Type 1 due to the presence of cafe-au-lait spots.[] Pallor, fatigue, weakness, fevers, and a dry cough are common symptoms of JMML. Pallor is specifically described as an abnormal paleness of the skin.[] Stature Idiopathic Short Stature Idiopathic short stature (ISS) is a term used when your child is very short compared with other children of the same age and there is no[]

  • Ataxia Telangiectasia

    An otherwise seemingly normal girl, who had developed limping at the age of 11 months old, referred to Namazi Hospital, Shiraz, Iran, due to pallor and latitude at the age[] Children with NBS have significant microcephaly, a distinct facial appearance, short stature, and moderate cognitive impairment, but do not experience any neurologic deterioration[] Nutritional effects on lung disease and immune function Several small cross-sectional studies have shown that patients with A-T exhibit high rates of malnutrition, short stature[]

  • Watson Syndrome

    From Wikidata Jump to navigation Jump to search No description defined WATSON SYNDROME; WTSN WATSON SYNDROME Pulmonic Stenosis With Cafe-Au-Lait Spots Cafe-Au-Lait Spots With[] […] stationary night blindness, golden yellow fundus in light that disappears in dark adaptation (Mizuo-Nakamura phenomenon) AR SAG, GRK1 #258100, #613411 OPTIC ATROPHY Optic nerve pallor[] Corneal clouding and cognitive impairment develop, as well as cessation of growth, causing short stature. Joint stiffness and contractures limit mobility.[]

  • Noonan Syndrome-Like Disorder with Juvenile Myelomonocytic Leukemia

    […] cardiac, cardiac malformation, developmental, genetic, neoplastic, neurological Phenotypes Aortic valve stenosis ; Autosomal dominant inheritance ; Bicuspid aortic valve ; Cafe-au-lait[] […] neurofibromatosis 1 and deletion of NF1 gene Due to stem cell defect causing deranged hematopoiesis Varied clinical presentation may include failure to thrive, malaise, fever, bleeding, pallor[] stature.[]

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