Phenotypes associated with the disease Parana hard skin syndrome (ORPHA:2812):
- Round face (HP:0000311): The facial appearance is more circular than usual as viewed from the front. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2812)
- Pectus carinatum (HP:0000768): A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2812)
- Hyperkeratosis (HP:0000962): Hyperkeratosis is a histopathological term defining a thickened stratum corneum and may be present in many different skin conditions, with many possible overlaps. Hyperkeratosis refers to the increased thickness of the stratum corneum, the outer layer of the skin. Hyperkeratosis is subclassified as orthokeratotic or parakeratotic. Orthokeratotic hyperkeratosis refers to the thickening of the keratin layer with preserved keratinocyte maturation, while parakeratotic hyperkeratosis shows retained nuclei as a sign of delayed maturation of keratinocytes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2812)
- Thickened skin (HP:0001072): Laminar thickening of skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2812)
- Tapered finger (HP:0001182): The gradual reduction in girth of the finger from proximal to distal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2812)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2812)
- Respiratory insufficiency (HP:0002093). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2812)
- Generalized hirsutism (HP:0002230): Abnormally increased hair growth over much of the entire body. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2812)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2812)
- Restricted chest movement (HP:0006596). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2812)
- Wide intermamillary distance (HP:0006610): A larger than usual distance between the left and right nipple. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2812)
- Generalized hyperpigmentation (HP:0007440). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2812)