Images
Signs / Symptoms (33)
| Gastrointestinal |
|---|
| Hepatomegaly |
| Craniofacial |
|---|
| 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 |
|---|
| 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 |
|---|
| 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 |
|---|
| Wilms tumor |
| Hematologic |
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| Eosinophilia |
| Ocular |
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| Coloboma of iris |
| Strabismus |
| Oral |
|---|
| Choroidal hypoplasia |
| Decreased retinal pigmentation with dispersion and clusters of pigment and yellowish dots in the midperipheral region |
| Dental abnormalities |
| Dysplastic enamel |
| Hypodontia |
| Skin |
|---|
| Cutaneous nevi |