Phenotypes associated with the disease Holoprosencephaly-caudal dysgenesis syndrome (ORPHA:2165):
- Abnormality of the genital system (HP:0000078): An abnormality of the genital system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2165)
- Renal insufficiency (HP:0000083): A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2165)
- Median cleft upper lip (HP:0000161): A type of cleft lip presenting as a midline (median) gap in the upper lip. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2165)
- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2165)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2165)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2165)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2165)
- Proptosis (HP:0000520): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2165)
- Abnormality of the skeletal system (HP:0000924): An abnormality of the skeletal system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2165)
- Holoprosencephaly (HP:0001360): Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2165)
- Premature birth (HP:0001622): The birth of a baby of less than 37 weeks of gestational age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2165)
- Abnormal morphology of the radius (HP:0002818): An abnormality of the radius. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2165)
- Radial ray deficiency (HP:0006433): Radial dysplasia, also known as radial longitudinal deficiency, includes radial clubhand and is a disfiguring, and potentially disabling, congenital limb anomaly. The entire upper limb may be involved, although the defect is most evident in the forearm and hand. Affected children suffer a variable degree of hypoplasia or absence of the preaxial skeleton and soft tissues, in particular the thumb, radius, and dorsoradial soft tissues. The hand is usually radially deviated and subluxated off the distal aspect of the ulna, the ulna may be shortened and have a bow-shaped deformity, and there is no true wrist (radiocarpal) joint in Bayne2 type-III and IV radial dysplasia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2165)
- Cyclopia (HP:0009914): Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2165)
- Abnormal diencephalon morphology (HP:0010662): An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2165)
- Abnormal cerebral vascular morphology (HP:0100659): An anomaly of the cerebral blood vessels. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2165)