- Joint hypermobility (HP:0001382): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93323)
- Abnormal fibula morphology (HP:0002991): An anomaly of the calf bone (fibula), one of the two bones of the calf. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93323)
- 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:93323)
- Genu valgum (HP:0002857): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93323)
- Tibial bowing (HP:0002982): A bending or abnormal curvature of the tibia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93323)
- Short tibia (HP:0005736): Underdevelopment (reduced size) of the tibia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93323)
- Disproportionate prominence of the femoral medial condyle (HP:0006437). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93323)
- Limb undergrowth (HP:0009826): Limb shortening because of underdevelopment of one or more bones of the extremities. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93323)
- Lower limb asymmetry (HP:0100559): A difference in length or diameter between the left and right leg. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93323)
- Limitation of joint mobility (HP:0001376): A reduction in the freedom of movement of one or more joints. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93323)
- Joint stiffness (HP:0001387): Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93323)
- Toe syndactyly (HP:0001770): Webbing or fusion of the toes, 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 toes in a proximo-distal axis are referred to as "Symphalangism". Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93323)
- Talipes equinovalgus (HP:0001772): A deformity of foot and ankle in which the foot is bent down and outwards. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93323)
- Short toe (HP:0001831): A toe that appears disproportionately short compared to the foot. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93323)
- Bowing of the legs (HP:0002979): A bending or abnormal curvature affecting a long bone of the leg. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93323)
- Fibular hypoplasia (HP:0003038): Underdevelopment of the fibula. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93323)
- Short femur (HP:0003097): An abnormal shortening of the femur. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93323)
- Decreased hip abduction (HP:0003184): Reduced ability to move the femur outward to the side. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93323)
- Arthralgia of the hip (HP:0003365): Joint pain affecting the hip. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93323)
- Limited knee flexion/extension (HP:0005085): A limited ability of the knee joint to perform extension and flexion. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93323)
- 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:93323)
- Ankle hypermobility (HP:0006460): The ankle joint can move, passively and/or actively, beyond normal limits along its physiological axes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93323)
- Structural foot deformity (HP:0010219): A foot deformity resulting due to an abnormality affecting the bones of the foot (as well as muscle and soft tissue). In contrast if only the muscle and soft tissue are affected the term positional foot deformity applies. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93323)
- Abnormal bone ossification (HP:0011849): Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93323)
- Oligodactyly (HP:0012165): A developmental defect resulting in the presence of fewer than the normal number of digits. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93323)
- Pain (HP:0012531): An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93323)
- Hip subluxation (HP:0030043): A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93323)
- Proximal femoral focal deficiency (HP:0030772): Proximal femoral focal deficiency is a deformity manifested by hypoplasia of a variable portion of the femur with shortening of the entire limb. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93323)
- Impairment of activities of daily living (HP:0031058): Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93323)
- Knee joint hypermobility (HP:0045086): The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93323)
- Renal dysplasia (HP:0000110): The presence of developmental dysplasia of the kidney. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:93323)
- Abnormality of the eye (HP:0000478): Any abnormality of the eye, including location, spacing, and intraocular abnormalities. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:93323)
- Anophthalmia (HP:0000528): Absence of the globe or eyeball. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:93323)
- Abnormal anterior chamber morphology (HP:0000593): Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:93323)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:93323)
- Craniosynostosis (HP:0001363): Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:93323)
- Abnormal heart morphology (HP:0001627): Any structural anomaly of the heart. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:93323)
- Foot oligodactyly (HP:0001849): A developmental defect resulting in the presence of fewer than the normal number of toes. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:93323)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:93323)
- Spina bifida (HP:0002414): Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:93323)
- Fibular aplasia (HP:0002990): Absence of the fibula. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:93323)
- Hypoplastic acetabulae (HP:0003274): Underdeveloped acetabulae. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:93323)
- Abnormal morphology of ulna (HP:0040071): Any structural anomaly of the ulna, a bone of the forearm the extends from the elbow to the little finger. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:93323)
- 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 rare (HP:0040284). (ORPHA:93323)
- Thoracoabdominal wall defect (HP:0100656): Failure of the chest and abdominal wall to close, which is likely caused by the failure of the ventral wall to close during week 4 of development. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:93323)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93323)
- Abnormal lower limb bone morphology (HP:0040069). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93323)
These phenotypes are associated with the disease Isolated fibular hemimelia (ORPHA:93323).