Torticollis, keloids, cryptorchidism, renal dysplasia: A rare genetic condition characterized by undescended testes, kidney defects, torticollis and the formation of keloids which are scar-like elevations on the skin. The symptoms occur in males though females carriers can have mild symptoms.
* Asymmetrical face * Undescended testes * Progressive muscular torticollis * Fever * Pigmented nevi * Keloids * Varicose veins * Chronic pyelonephritis
o Congenital muscular torticollis –Most likely secondary to birth trauma –SCM muscle is stretched during delivery, a hematoma results, and the SCM muscle spasms in response –SCM muscle may become fibrotic * Brachial nerve plexus injury –Also associated with birth trauma * Benign paroxymal torticollis –Occurs in infants and young children –Abrupt onset with pallor and vomiting –May be a migraine variant * Muscular spasm –May occur after prolonged exposure to a cold stimulus such as wind o Dystonic reaction –May be drug reaction to antipsychotics, metoclopramide, prochlorperazine, trimethobenzamide –May be part of a dysmotility syndrome such as myasthenia gravis or Huntington chorea + HEENT infection –May occur with cervical adenitis, otitis, or mastoiditis –Local pressure on the neighboring SCM muscle causes irritation and spasm of the muscle + Atlantoaxial subluxation –Associated with Down syndrome, achondroplasia –May be secondary to fracture, infection, or malignancy of the cervical spine o Post-upper respiratory infection –May occur in young children –Retropharyngeal edema displaces the atlantoaxial junction + Ocular torticollis –A compensatory mechanism enacted by patients with trochlear nerve palsy or superior oblique muscle weakness –Head positioning results in better alignment of the affected eye with the unaffected eye, and minimizes diplopia * GERD, hiatal hernia –May manifest as neck torsion (known as Sandifer syndrome) + Klippel-Feil syndrome
These home medical tests may be relevant to Torticollis, keloids, cryptorchidism, renal dysplasia: * Bladder & Urinary Health: Home Testing: o Home Bladder Tests o Home Urinary Tract Infection (UTI) Tests o Home Cystitis Tests o Home Kidney Tests o Home Urine Protein Tests (Kidney Function) o Home Prostate Cancer Tests * Kidney Health: Home Testing: o Home Microalbumin Tests (Kidney) o Home Urine Protein Tests (Kidney) o Home Urinary Tract Infection (UTI) Tests
* Physical therapy including massage and stretching of the contracted muscle * For infants, selective positioning and placement of visual stimuli to promote stretching of the affected muscle * Surgical release of the SCM muscle * Surgical stabilization of the alantoaxial joint * Discontinuation of causative medications * Ophthalmic consultation for EOM impairment.Treatment of congenital torticollis aims to stretch the shortened muscle. Nonsurgical treatment includes passive neck stretching and proper positioning during sleep for an infant and active stretching exercises for an older child — for example, touching the ear opposite the affected side to the shoulder and touching the chin to the same shoulder. Surgical correction involves sectioning the sternocleidomastoid muscle; this should be done during preschool years and only if other therapies fail. Treatment of acquired torticollis aims to control pain and correct the underlying cause of the disease. In the acute form, application of heat, cervical traction, and gentle massage may help relieve pain; analgesics may also be helpful. Stretching exercises and a neck brace may relieve symptoms of the spasmodic and hysterical forms. Drug treatment includes anticholinergic drugs such as baclofen. Botulinum toxin injections are effective in temporarily relieving torticollis, but injections must be repeated every 3 months.