Phenotypes associated with the disease Pseudoprogeria syndrome (ORPHA:2985):
- Absent eyelashes (HP:0000561): Lack of eyelashes. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:2985)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:2985)
- Absent eyebrow (HP:0002223): Absence of the eyebrow. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:2985)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2985)
- Bird-like facies (HP:0000320). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2985)
- Convex nasal ridge (HP:0000444): Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2985)
- Glaucoma (HP:0000501): Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2985)
- Thin skin (HP:0000963): Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2985)
- Joint stiffness (HP:0001387): Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2985)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2985)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2985)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2985)
- Progressive spastic quadriplegia (HP:0002478). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2985)
- 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: Very frequent (HP:0040281). (ORPHA:2985)
- Decreased body weight (HP:0004325): Abnormally low body weight. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2985)
- Cranium bifidum occultum (HP:0004423): Cranium bifidum occultum, also known as Catlin mark, is a congenital midline skull defect presenting as an enlarged posterior fontanelle in the upper posterior angle of the parietal bone close to the intersection of the sagittal and lambdoid sutures. Cranium bifidum occultum occurs due to a defect in intramembranous ossification, a process through which skull bones (frontal, parietal, squamous temporal and occipital bones superior to the mendosal suture) ossify under a vascularized membrane toward the midline to cover the brain. Unlike cranium bifidum cysticum, cranium bifidum occultum does not have herniation of intracranial contents. As the skull grows, the midline cranium bifidum occultum defect is separated into bilateral enlarged parietal foramina (EPF) by a midline osseous bridge. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2985)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2985)
- Spinal arachnoid cyst (HP:0009745): Presence of arachnoid cysts of the spinal canal extradurally in the epidural space. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2985)
- Narrow nasal tip (HP:0011832): Decrease in width of the nasal tip. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2985)
- Sparse eyebrow (HP:0045075): Decreased density/number of eyebrow hairs. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2985)