- 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: Frequent (HP:0040282). (ORPHA:3404)
- Abnormal penis morphology (HP:0000036): Abnormality of the male external sex organ. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3404)
- Renal hypoplasia (HP:0000089): Hypoplasia of the kidney. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3404)
- Polycystic kidney dysplasia (HP:0000113): The presence of multiple cysts in both kidneys. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3404)
- Narrow mouth (HP:0000160): Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3404)
- High palate (HP:0000218): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3404)
- Thin vermilion border (HP:0000233): Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3404)
- Prominent occiput (HP:0000269): Increased convexity of the occiput (posterior part of the skull). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3404)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3404)
- 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:3404)
- Abnormal pinna morphology (HP:0000377): An abnormality of the pinna, which is also referred to as the auricle or external ear. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3404)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3404)
- Abnormal rib morphology (HP:0000772): An anomaly of the rib. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3404)
- Short ribs (HP:0000773): Reduced rib length. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3404)
- Abnormal external genitalia morphology (HP:0000811): A structural anomaly of the external genitalia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3404)
- Short sternum (HP:0000879): Decreased inferosuperior length of the sternum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3404)
- Thin ribs (HP:0000883): Ribs with a reduced diameter. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3404)
- 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: Frequent (HP:0040282). (ORPHA:3404)
- Oligohydramnios (HP:0001562): Diminished amniotic fluid volume in pregnancy. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3404)
- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3404)
- Potter facies (HP:0002009): A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3404)
- Pulmonary hypoplasia (HP:0002089). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3404)
- Respiratory distress (HP:0002098): Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3404)
- Pneumothorax (HP:0002107): Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3404)
- Respiratory failure (HP:0002878): A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3404)
- Hypoplasia of the radius (HP:0002984): Underdevelopment of the radius. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3404)
- Fibular aplasia (HP:0002990): Absence of the fibula. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3404)
- Mesomelia (HP:0003027): Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3404)
- Humeroradial synostosis (HP:0003041): An abnormal osseous union (fusion) between the radius and the humerus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3404)
- Ovoid thoracolumbar vertebrae (HP:0003309). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3404)
- Birth length less than 3rd percentile (HP:0003561). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3404)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3404)
- Short humerus (HP:0005792): Underdevelopment of the humerus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3404)
- Aplasia/Hypoplasia of the ulna (HP:0006495): Absence or underdevelopment of the ulna. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3404)
- Clitoral hypertrophy (HP:0008665): Hypertrophy of the clitoris. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3404)
- Enlarged labia minora (HP:0008683): Increase in size of the folds of skin between the outer labia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3404)
- Severe intrauterine growth retardation (HP:0008846): Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3404)
- Postnatal growth retardation (HP:0008897): Slow or limited growth after birth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3404)
- Maternal diabetes (HP:0009800): Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3404)
- Phocomelia (HP:0009829): Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the entire limb is missing (such as amelia), or the distal part of a limb is absent (peromelia). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3404)
- Short metacarpal (HP:0010049): Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3404)
- Long upper lip (HP:0011341): Increased width of the upper lip. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3404)
- Abnormal forearm bone morphology (HP:0040072). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3404)
- 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: Frequent (HP:0040282). (ORPHA:3404)
These phenotypes are associated with the disease Ulbright-Hodes syndrome (ORPHA:3404).