- Finger aplasia (HP:0009380): A developmental defect resulting in the presence of fewer than the normal number of fingers (i.e., aplasia of one or more fingers). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2879)
- Foot oligodactyly (HP:0001849): A developmental defect resulting in the presence of fewer than the normal number of toes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2879)
- Nail dysplasia (HP:0002164): The presence of developmental dysplasia of the nail. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2879)
- Micromelia (HP:0002983): The presence of abnormally small extremities. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2879)
- Fibular aplasia (HP:0002990): Absence of the fibula. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2879)
- Abnormal tibia morphology (HP:0002992): Abnormality of the tibia (shinbone). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2879)
- Disproportionate short stature (HP:0003498): A kind of short stature in which different regions of the body are shortened to differing extents. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2879)
- Aplasia of the ulna (HP:0003982): Missing ulna bone associated with congenital failure of development. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2879)
- Bowing of the long bones (HP:0006487): A bending or abnormal curvature of a long bone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2879)
- Aplasia/Hypoplasia of the sacrum (HP:0008517): Aplasia or developmental hypoplasia of the sacral bone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2879)
- Aplasia/Hypoplasia involving the pelvis (HP:0009103). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2879)
- Ectrodactyly (HP:0100257): A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2879)
- Aplasia of the uterus (HP:0000151): A congenital defect characterized by absence of the uterus. Aplasia refers to the failure of an organ to develop during embryonic growth and development due to the absence of primordial tissue. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2879)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2879)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2879)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2879)
- Hypoplasia of the radius (HP:0002984): Underdevelopment of the radius. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2879)
- Radial bowing (HP:0002986): A bending or abnormal curvature of the radius. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2879)
- 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:2879)
- 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:2879)
- 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: Occasional (HP:0040283). (ORPHA:2879)
- Calvarial skull defect (HP:0001362): A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2879)
- Hydrops fetalis (HP:0001789): The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2879)
- Talipes (HP:0001883): A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2879)
- Anal atresia (HP:0002023): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2879)
- Meningocele (HP:0002435): Protrusion of the meninges through a defect of the skull or vertebral column. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2879)
- Tracheoesophageal fistula (HP:0002575): An abnormal connection (fistula) between the esophagus and the trachea. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2879)
- High, narrow palate (HP:0002705): The presence of a high and narrow palate. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2879)
- Humeroradial synostosis (HP:0003041): An abnormal osseous union (fusion) between the radius and the humerus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2879)
- Short nose (HP:0003196): Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2879)
- Hypoplasia of penis (HP:0008736). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2879)
These phenotypes are associated with the disease Phocomelia, Schinzel type (ORPHA:2879).