Telecanthus-hypertelorism-strabismus-pes cavus syndrome

Definition

Orphanet

Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia.

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Symptoms

Medical Term Other Names Description
Telecanthus Dystopia canthorum, Increased distance between medial canthi, Increased intercanthal distance, Corners of eye widely separated [more] Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.
Hypertelorism Increased distance between eye sockets, Increased distance between eyes, Increased interpupillary distance, Widely spaced eyes, Excessive orbital separation, Widened interpupillary distance, Ocular hypertelorism, Wide-set eyes [more] Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Pes cavus The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight.
Inguinal hernia Protrusion of the contents of the abdominal cavity through the inguinal canal.
Hernia
Camptodactyly The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.
Strabismus Squint, Heterotropia, Cross-eyed, Squint eyes [more] Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other.
Osteopenia Generalized osteopenia Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value.
Hypospadias 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.
Clinodactyly Curvature of digit An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).

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