Congenital ectodermal dysplasia with hearing loss

Overview

A rare syndrome characterized by nerve deafness, abnormally bent fifth fingers, ectodermal dysplasia and scoliosis.

Symptoms

Symptoms includes:

  • Abnormal hair quantity
  • Camptodactyly of finger
  • Short stature
  • Arachnodactyly
  • Carious teeth
  • Coarse hair
  • Cognitive impairment
  • Hyperkeratosis
  • Kyphosis
  • Scoliosis

Causes

Infections –CMV:

Most common intrauterine infection causing hearing loss –Bacterial meningitis –Congenital rubella: Cataracts, cardiovascular anomalies, retinitis, mental retardation –Congenital syphilis –Toxoplasmosis –Lyme disease

Metabolic –Hyperbilirubinemia (kernicterus):

Consider phototherapy or exchange transfusion if serum bilirubin >20 mg/dL in newborn –Hypercholesterolemia

Ototoxic medications.

Aminoglycoside, gentamicin often needed for perinatal sepsis; >5 days risks hearing loss

Temporal bone anomaly.

Middle ear anomaly (results in conductive hearing loss), Perilymphatic fistula, Dilated vestibular aqueduct (±Mondini deformity), Michel cochlear aplasia –Scheibe aplasia: Membranous aplasia; bony labyrinth normal

Nonsyndromic hereditary congenital deafness (connexin 26 gene mutation is responsible for half of all genetic deafness)

Syndromic hereditary congenital deafness:

Waardenburg: Telecanthus, confluent eyebrow, colored irides, white forlock

Usher: Retinitis pigmentosa (totally blind by second to third decade), ataxia, vestibular dysfunction

Alport: Progressive nephritis and hearing loss

Apert (acrocephalosyndactyly): Craniofacial dysostosis –Crouzon (craniofacial dysostosis): Prognathic mandibile, small maxilla

Jervell and Lange-Neilsen: Heart disease (prolonged QT interval)

Pendred: Euthyroid goiter

Oto-palatal-digital: Cleft palate, stubby clubbed digits –Congential aural atresia

Treatment

  • Identify children with hearing loss early
  • Treat medically treatable cause, if any –Syphilis (steroids and penicillin), Lyme disease, toxoplasmosis, hypercholesterolemia
  • Intravenous gancyclovir for congenital CMV
  • Habilitate by age 6 months if possible, Amplification, Bone-anchored hearing aids, Tympanostomy tube placement, Middle ear reconstruction Perilymphatic fistula closure, Cochlear implant (after age 12 months)
  • Periodic follow-up necessary:
  • Ensure auditory habilitation is working
  • Check for hearing loss progression