Phenotypes associated with the disease Isolated tibial hemimelia (ORPHA:93322):
- 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: Very frequent (HP:0040281). (ORPHA:93322)
- Absent tibia (HP:0009556): Absence of the tibia. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93322)
- Split hand (HP:0001171): A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middle fingers as far as oligo- or monodactyl hands. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93322)
- Mesomelic leg shortening (HP:0004987): Shortening of the middle parts of the leg in relation to the upper and terminal segments. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93322)
- Knee flexion contracture (HP:0006380): A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93322)
- Syndactyly (HP:0001159): Webbing or fusion of the fingers or 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 fingers or toes in a proximo-distal axis are referred to as "symphalangism". Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93322)
- Hip dysplasia (HP:0001385): The presence of developmental dysplasia of the hip. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93322)
- Split foot (HP:0001839): A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93322)
- Metatarsus adductus (HP:0001840): The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93322)
- Foot oligodactyly (HP:0001849): A developmental defect resulting in the presence of fewer than the normal number of toes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93322)
- Absent radius (HP:0003974): Missing radius bone associated with congenital failure of development. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93322)
- Radial ray deficiency (HP:0006433): Radial dysplasia, also known as radial longitudinal deficiency, includes radial clubhand and is a disfiguring, and potentially disabling, congenital limb anomaly. The entire upper limb may be involved, although the defect is most evident in the forearm and hand. Affected children suffer a variable degree of hypoplasia or absence of the preaxial skeleton and soft tissues, in particular the thumb, radius, and dorsoradial soft tissues. The hand is usually radially deviated and subluxated off the distal aspect of the ulna, the ulna may be shortened and have a bow-shaped deformity, and there is no true wrist (radiocarpal) joint in Bayne2 type-III and IV radial dysplasia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93322)
- Short tibia (HP:0005736): Underdevelopment (reduced size) of the tibia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93322)
- Proximal tibial and fibular fusion (HP:0005892): A developmental defect characterized by the abnormal fusion of the proximal tibia and fibula. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93322)
- Rudimentary to absent tibiae (HP:0006426). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93322)
- 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:93322)
- Tarsal synostosis (HP:0008368): Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93322)
- Aplasia of the 2nd metacarpal (HP:0010037): Absence of the second long bone of the hand. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93322)
- Aplasia of the 4th metacarpal (HP:0010043): Absence of the fourth long bone of the hand. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93322)
- Polydactyly (HP:0010442): A congenital anomaly characterized by the presence of supernumerary fingers or toes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93322)
- Cutaneous finger syndactyly (HP:0010554): A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93322)
- 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:93322)
- Absent hallux (HP:0012386): Aplasia of the hallux, that is, a development defect such that the big toe does not develop. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93322)
- Partial absence of foot (HP:0030032): An incomplete absence of the foot, with no bony elements distal to the tarsals, but with preservation of some or all of the tarsals. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93322)
- 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: Very rare (HP:0040284). (ORPHA:93322)
- 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: Very rare (HP:0040284). (ORPHA:93322)
- 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: Very rare (HP:0040284). (ORPHA:93322)
- 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: Very rare (HP:0040284). (ORPHA:93322)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:93322)
- Myelomeningocele (HP:0002475): Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:93322)
- Coxa valga (HP:0002673): Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:93322)
- Hip dislocation (HP:0002827): Displacement of the femur from its normal location in the hip joint. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:93322)
- Hemivertebrae (HP:0002937): Absence of one half of the vertebral body. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:93322)