- Split foot (HP:0001839): A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1112)
- Hemivertebrae (HP:0002937): Absence of one half of the vertebral body. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1112)
- Aplasia/Hypoplasia of the phalanges of the hand (HP:0009767): Small or missing phalangeal bones of the fingers of the hand. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1112)
- Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1112)
- Abnormal female external genitalia morphology (HP:0000055): Any structural abnormality of the female external genitalia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1112)
- Asymmetry of the thorax (HP:0001555): Lack of symmetry between the left and right halves of the thorax. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1112)
- Oligohydramnios (HP:0001562): Diminished amniotic fluid volume in pregnancy. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1112)
- Patent ductus arteriosus (HP:0001643): In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1112)
- Toe syndactyly (HP:0001770): Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism". Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1112)
- Anonychia (HP:0001798): Aplasia of the nail. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1112)
- Pulmonary hypoplasia (HP:0002089). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1112)
- Abnormal pelvic girdle bone morphology (HP:0002644): An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1112)
- Elbow dislocation (HP:0003042): Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1112)
- Vaginal fistula (HP:0004320): The presence of a fistula of the vagina. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1112)
- Abnormal metacarpal morphology (HP:0005916): Any abnormal shape or structure of the metacarpal bones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1112)
- Finger syndactyly (HP:0006101): Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism". Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1112)
- Renal hypoplasia/aplasia (HP:0008678): Absence or underdevelopment of the kidney. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1112)
- Persistent cloaca (HP:0012621): Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1112)
These phenotypes are associated with the disease Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome (ORPHA:1112).