- 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: Very frequent (HP:0040281). (ORPHA:2256)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2256)
- Protruding ear (HP:0000411): Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2256)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2256)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2256)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2256)
- Premature birth (HP:0001622): The birth of a baby of less than 37 weeks of gestational age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2256)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2256)
- Hypoplasia of the ulna (HP:0003022): Underdevelopment of the ulna. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2256)
- Short long bone (HP:0003026): One or more abnormally short long bone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2256)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2256)
- 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: Very frequent (HP:0040281). (ORPHA:2256)
- Aplasia/Hypoplasia of the fibula (HP:0006492): Absence or underdevelopment of the fibula. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2256)
- Aplasia of the proximal phalanges of the hand (HP:0010242). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2256)
- Cryptorchidism (HP:0000028): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2256)
- Shawl scrotum (HP:0000049): Superior margin of the scrotum superior to the base of the penis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2256)
- Renal hypoplasia (HP:0000089): Hypoplasia of the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2256)
- Single umbilical artery (HP:0001195): Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2256)
- Ventricular septal defect (HP:0001629): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2256)
- Hypoplasia of penis (HP:0008736). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2256)
- Abnormal cardiovascular system morphology (HP:0030680): Any structural anomaly of the heart and blood vessels. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2256)
- Abnormal mesentery morphology (HP:0100016): Folds of membranous tissue (peritoneum, mesothelium) attached to the wall of the abdomen and enclosing viscera. Examples include the mesentery for the small intestine; the transverse mesocolon, which attaches the transverse portion of the colon to the back wall of the abdomen; and the mesosigmoid, which enfolds the sigmoid portion of the colon. Cells of the same embryologic origin also surround the other organs of the body such as the lungs (pleura) or the heart (pericardium). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2256)
These phenotypes are associated with the disease Fibulo-ulnar hypoplasia-renal anomalies syndrome (ORPHA:2256).