- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:887)
- 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:887)
- Anal atresia (HP:0002023): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:887)
- Tracheal stenosis (HP:0002777). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:887)
- Aplasia/Hypoplasia of the lungs (HP:0006703). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:887)
- Ectopic kidney (HP:0000086): A developmental defect in which a kidney is located in an abnormal anatomic position. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:887)
- Renal agenesis (HP:0000104): Agenesis, that is, failure of the kidney to develop during embryogenesis and development. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:887)
- Congenital diaphragmatic hernia (HP:0000776): The presence of a hernia of the diaphragm present at birth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:887)
- Laryngomalacia (HP:0001601): Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:887)
- Abnormal cardiac septum morphology (HP:0001671): An anomaly of the intra-atrial or intraventricular septum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:887)
- Tracheoesophageal fistula (HP:0002575): An abnormal connection (fistula) between the esophagus and the trachea. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:887)
- Vertebral segmentation defect (HP:0003422): An abnormality related to a defect of vertebral separation during development. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:887)
- Aplasia/Hypoplasia of the radius (HP:0006501): A small/hypoplastic or absent/aplastic radius. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:887)
- Abnormal cardiovascular system morphology (HP:0030680): Any structural anomaly of the heart and blood vessels. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:887)
- Multicystic kidney dysplasia (HP:0000003): Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:887)
- Abnormal morphology of female internal genitalia (HP:0000008): An abnormality of the female internal genitalia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:887)
- 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:887)
- Hypospadias (HP:0000047): Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:887)
- Bifid scrotum (HP:0000048): Midline indentation or cleft of the scrotum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:887)
- Ambiguous genitalia (HP:0000062): A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:887)
- Hydronephrosis (HP:0000126): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:887)
- 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: Occasional (HP:0040283). (ORPHA:887)
- Large fontanelles (HP:0000239): In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:887)
- Abnormal rib morphology (HP:0000772): An anomaly of the rib. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:887)
- Abnormality of the urethra (HP:0000795): An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:887)
- Cavernous hemangioma (HP:0001048): The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:887)
- Preaxial hand polydactyly (HP:0001177): Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:887)
- 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:887)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:887)
- Omphalocele (HP:0001539): A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:887)
- Abnormality of the pancreas (HP:0001732): An abnormality of the pancreas. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:887)
- Occipital encephalocele (HP:0002085): A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:887)
- Anencephaly (HP:0002323): Anencephaly is a developmental anomaly characterized by a fetus that has no calvarium, with a lack of most or all of the fetus' brain tissue. Anencephaly belongs to a collective group known as neural tube defects (NTD) and is a result of the neural tube failing to close in its rostral end during fetal development. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:887)
- Abnormal sacrum morphology (HP:0005107): An abnormality of the sacral bone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:887)
- Abnormal intervertebral disk morphology (HP:0005108): Any structural abnormality of the intervertebral disk. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:887)
- Abnormality of the gallbladder (HP:0005264): An abnormality of the gallbladder. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:887)
- 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: Occasional (HP:0040283). (ORPHA:887)
- Hypoplasia of penis (HP:0008736). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:887)
- Anorectal anomaly (HP:0012732): An abnormality of the anus or rectum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:887)
- Non-midline cleft of the upper lip (HP:0100335): Clefting (gap or groove) of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:887)
- Posteriorly rotated ears (HP:0000358): A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:887)
These phenotypes are associated with the disease VACTERL/VATER association (ORPHA:887).