CHOTZEN SYNDROME
 
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CHOTZEN SYNDROME

 

DEFINITION:

An acrocephalosyndactyly syndrome characterized by cranio synostosis, syndactyly of the hands and feet, and dysmorphic facial features.

EPIDEMIOLOGY:

  • incidence: ? but more common than Apert Syndrome
  • age of onset:
    • newborn (dysmorphic features)
  • risk factors:
    • familial - autosomal dominant
      • chrom.#: 7p21
      • gene: ?
    • M = F
    • ? increased paternal age

PATHOGENESIS:

1. Background

  • first described by H. Saethre and F. Chotzen in 1931 and 1932, respectively
  • one of 4 Acrocephalosyndactyly Syndromes
  • Type I: Apert Syndrome
  • Type II: Apert-Crouzon Syndrome
  • Type III: Chotzen Syndrome (Saethre-Chotzen)
  • Type V: Pfeiffer Syndrome
  • different from one of the Acrocephalopolysyndactyly Syndromes
  • Type I: Noack Syndrome
  • Type II: Carpenter Syndrome
  • Type III: Sakati-Nyhan Syndrome
  • Type IV: Goodman Syndrome

2. Genetic Defect

  • genetic defect -> abnormal osseous development -> irregular bridging between the early islands of mesenchymal blastema that eventually forms bone particularly in the cranium and distal extremities -> craniosynostosis and syndactyly
  • major diagnostic criteria in Chotzen Syndrome is craniosynostosis and syndactyly plus low anterior hairline, deviated nasal septum, and eyelid ptosis
  • may be a wide range in expressivity and a high degree of pene-trance

CLINICAL FEATURES:

1. Craniosynostosis

  • mild and may be missed
  • coronal sutures most commonly involved producing:
    • mild acrocephaly (cone-shaped head)
    • brachycephaly (shortened A-P diameter)
    • high prominent forehead
  • fusion of sutures is often asymmetrical producing:
    • plagiocephaly
    • facial asymmetry

2. Syndactyly

  • mild to moderate

1. Hands

  • usually partial frequently between the 2nd and 3rd fingers
  • clinodactyly of the 5th finger and brachydactyly present
  • thumbs finger-like

2. Toes

  • usually partial frequently between the 2nd and 3rd toes
  • great toe broad with hallux valgus
  • dermatographics may be present
    • simian crease, low ridge count, peculiar thenar and hypothenar loops and whorls

3. Facial Features

  • fontanelles large and late-closing
  • flattened face with maxillary hypoplasia
  • low frontal hairline
  • ears
    • low set
    • posteriorly rotated or malformed
    • hearing loss
  • ocular
    • downslanting palpebral fissures
    • ptosis of eyelids
    • dystopia canthorum
    • lacrimal duct stenosis +/- eye infections
    • hypertelorism
    • strabismus
  • nose
    • depressed nasal bridge
    • parrot-beaked nose
    • deviated nasal septum
  • mouth
    • high-arched narrow palate +/- cleft palate
    • maxillary lateral incisors
      • peg-shaped, missing, or anomalous
    • supernumerary teeth

4. Other Features

1. Neurological

  • majority have normal intelligence although some may have mild to moderate mental retardation
  • optic nerve atrophy with early closure of cranial sutures

INVESTIGATIONS:

1. Imaging Studies

1. Skull X-Ray

  • synostosis of the coronal sutures with occasional involve-ment of the sphenobasilar sutures
  • maxillary hypoplasia

2. Skeletal X-Rays

  • syndactyly of the soft tissue

MANAGEMENT:

1. Supportive

  • no treatment for underlying disorder
  • multidisciplinary approach
    • Paediatrics, Orthopedics, Neurology, Plastics, Neurosurgery
  • genetic counselling
    • recurrence risk is not elevated with unaffected parents but
    • 50% with one affected parent

2. Surgery

  • surgical repair of:
    • craniosynostosis - craniotomy
    • syndactyly - corrective surgery
    • facial dysmorphisms - cosmetic reconstruction of ptosis, tear duct anomalies, nasal septum deviation, etc.

3. Prognosis

  • excellent

 

 

Pediatric Database - CHOTZEN SYNDROME

 

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