- Congenital contracture (HP:0002803): One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:295000)
- Abnormality of the upper limb (HP:0002817): An abnormality of the arm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:295000)
- Aplasia/Hypoplasia of the corpus callosum (HP:0007370): Absence or underdevelopment of the corpus callosum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:295000)
- Feeding difficulties in infancy (HP:0008872): Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:295000)
- Amniotic constriction rings of arms (HP:0010483): Amniotic constriction rings affecting the arms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:295000)
- Pedal edema (HP:0010741): An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:295000)
- Edema of the upper limbs (HP:0010742): An abnormal accumulation of fluid beneath the skin of the arms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:295000)
- Cleft lip (HP:0410030): A gap in the lip or lips. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:295000)
- Craniofacial cleft (HP:5201015): Congenital abnormality with cleft (gap or opening) in the craniofacial bones. Craniofacial cleft includes facial cleft, orofacial clef, and cleft of the jaw. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:295000)
- Hydrocephalus (HP:0000238): Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:295000)
- 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:295000)
- Abnormality of the lower limb (HP:0002814): An abnormality of the leg. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:295000)
- Amniotic constriction ring (HP:0009775): Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:295000)
- Digital constriction ring (HP:0010491): A narrow segment of significantly reduced circumference of a digit. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:295000)
- Amniotic constriction rings of legs (HP:0010495): Amniotic constriction rings affecting the legs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:295000)
- Abnormal hair whorl (HP:0010721): An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:295000)
- Prominent forehead (HP:0011220): Forward prominence of the entire forehead, due to protrusion of the frontal bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:295000)
- 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:295000)
- Coloboma (HP:0000589): A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:295000)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:295000)
- 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:295000)
- Gastroschisis (HP:0001543): A type of congenital ventral incomplete closure of the abdominal wall in which the intestines and sometimes other organs extend freely into the amniotic fluid space through a small opening in the abdomen, usually to the right of the umbilicus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:295000)
- Decreased fetal movement (HP:0001558): An abnormal reduction in quantity or strength of fetal movements. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:295000)
- Premature birth (HP:0001622): The birth of a baby of less than 37 weeks of gestational age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:295000)
- Ectopia cordis (HP:0001683): Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and through the defect in the ventral wall. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:295000)
- 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: Occasional (HP:0040283). (ORPHA:295000)
- Encephalocele (HP:0002084): A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:295000)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:295000)
These phenotypes are associated with the disease Amniotic band syndrome (ORPHA:295000).