Telecanthus-hypertelorism-strabismus-pes cavus syndrome

What it is

A rare multiple congenital anomalies/dysmorphic syndrome characterized by telecanthus, hypertelorism, strabismus, and pes cavus. Facial dysmorphism may also include prominent forehead, epicanthal folds, a mobile soft tissue mass on tip of the nose, hypoplastic philtrum and vermillion border of the thin upper lip. Additional clinical features may include clinodactyly, camptodactyly, bilateral dorsiflexed toes, metatarsus adductus and hallux varus, bilateral posterior dislocation of the radial head, flared metaphyses of the long bones and osteopenia of tubular bones. Bilateral inguinal hernias and penile hypospadias without chordee may also be present. No neurologic signs or motor impairment have been reported. There have been no further descriptions in the literature since 1985.

Key facts

Prevalence

<1 / 1 000 000

Age of onset

Neonatal

Inheritance

Unknown

Classified as

Malformation syndrome

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

ICD-10 codes

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references