Signs / Symptoms (33)
Gastrointestinal |
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Hepatomegaly |
Craniofacial |
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Depressed nasal bridge |
Dolichocephaly with J-shaped sella turcica |
Edema of vocal cords |
Missing or small frontal and, or sphenoidal sinuses |
Relatively small tongue |
Triangular facies with frontal bossing |
Growth |
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Adult height ranges from 136 to 161 cm for males and from 126 to 151 cm for females |
Delayed puberty |
Hands and feet appear relatively large in relation to body |
Intrauterine growth deficiency |
Performance |
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High-pitched voice |
Mental retardation |
Metabolic Abnormality |
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Humoral imunodeficiency consisting of disturbed antibody response and impaired opsonization |
Hyperammonemia |
Hypoadrenocorticism |
Neurologic Abnormality |
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Large cerebral ventricles |
Intrauterine development |
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Hydrops fetalis |
Endocrine and/or Exocrine |
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Hypothyroidism |
Ovarian tumor |
Skeletal |
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Cortical thickening of long bones |
Highset hyoid bones |
Variable fibrous dysplasia especially in tibia |
Genitourinary |
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Wilms tumor |
Hematologic |
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Eosinophilia |
Ocular |
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Coloboma of iris |
Strabismus |
Oral |
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Choroidal hypoplasia |
Decreased retinal pigmentation with dispersion and clusters of pigment and yellowish dots in the midperipheral region |
Dental abnormalities |
Dysplastic enamel |
Hypodontia |
Skin |
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Cutaneous nevi |