Franceschetti-Zwahlen-Klein Syndrome

Franceschetti-Zwahlen-Klein Syndrome: Description, Causes and Risk Factors:Franceschetti-Zwahlen-Klein SyndromeFranceschetti-Zwahlen-Klein Syndrome is an autosomal dominant craniofacial disorder affecting the delveopment structure dervices from the first and second branchial arches during the 5th-8th week of embryoic development.The gene underlying this syndrome, TCOF1, was cloned in 1996 and since then more than 75 pathogenic mutations have been described throughout its 25 coding exons. Most mutations are predicted to result in a truncated protein, so it has been proposed that the observed clinical manifestation are due to haploinsufficiency or dominant negative effect of the gene product, treacle.A number of different disorders present clinical features that overlap with those seen in Franceschetti-Zwahlen-Klein Syndrome as exmplified below.Goldenhar syndrome often assicated with unilateral involvement of first and second arch-derived structures, but bilateral involvement can also be found. Main features inlcude epibulbar lipodermoid, upper eyelid colboma, microtia, preauricular tags, microganthia, and vertebral anomalies. There is a wide specturm of phenotypic etiology. Most reported cases have been sproadic, but a few instances of parent-child transmission and affected siblings born to normal parents have also been documented.
  • Nager syndrome is assoiciated with facial findings very much like Franceschetti-Zwahlen-Klein syndrome patients, but also involves hypoplastic or absent thumbs and radioulnar synostosis. Some cases suggesting autosomal dominant inheritance have been described, but there evidence of genetic heterogeneity.
  • Miller syndrome patient also have similar facial anomalies observed in Franceschetti-Zwahlen-Klein Syndrome, but present postaxial limb anomalies such as hypoplastic or absent fifth digits and absent toes. The inheritence is persumably autosmal recessive.
It is estimated that Franceschetti-Zwahlen-Klein syndrome occurs in one of 10,000 births. For unaffected parents with one child with Franceschetti-Zwahlen-Klein syndrome, the chances of giving birth to a second child with the condition is negligible. Adults with Franceschetti-Zwahlen-Klein syndrome have a 50% chances of passing the condition to their offspring.Symptoms:Clinical features include downslanting palpebral fissures, atresia of the middle ear ossicles, conductive hearing loss, cleft palate, malar hypoplasia, and micrognathia.General Signs & Symptoms:“Fishlike” facialappearance.
  • Dolichofacial pattern.
  • Hypoplasticsupraorbital rims.
  • Hypoplastic zygomas.
  • Down turned corners ofmouth.
  • Process of hair thatextends toward thecheek-25%.
  • Retrusivemandible andmaxilla.
  • High mandibularplane angle.
  • Deficient malarprojection.
  • Antegonialnotching.
  • Dorsal nasal hump.
  • Cleft palate - 35%.
  • Cleft lip-palate - rare.
  • Macrostomia - 15%.
  • Abnormal molar morphology.
  • Abnormal condylar andcoronoid process.
  • Absent or hypoplasticparotid glands
  • Eyes:Hypertelorism, down slanted palpebralfissures, Coloboma of lower eyelid, decrease or absence ofcilia on lower eyelid, hypoplastic lacrimal glands.
  • Ears:Symmetric external earmalformations, middle ear abnormalities, hypoplastic or absent cavitiesand ossicles, most patients have moderate-to-severe conductive hearingloss.
  • Airway may becompromised insignificantlyretrognathic patients, tracheotomy and sleep apnea.
  • Glossoptosis.
  • Palatopharyngealincompetence.
  • Intelligence is usually normal.
  • Mild mental retardation is present in fewcases.
Diagnosis:Diagnosis is usually based on clinical signs and findings. Genetic tests can help identify gene changes linked to this condition.The earliest possible diagnosis is by chorionic villus sampling (if there is a family history).Diagnosis may also be made at midtrimester antenatal ultrasound.Postnatally, diagnosis is essentially made on clinical features. A thorough assessment must be made for all associated features, especially those affecting breathing, and complications, e.g. conductive hearing loss.Treatment:Your child should be treated by a qualified craniofacial team. Franceschetti-Zwahlen-Klein Syndrome is a complex problem. It requires the expert skill of many different specialists working together. These problems are best treated at a craniofacial center.First, your child may need a hearing aid and this can be determined in the first few months of life.
  • Second, an early childhood program for speech and language stimulation may be recommended.
  • Third, if a cleft palate is present, the craniofacial team will advise you on the optimum timing for surgical closure of the cleft.
  • Fourth, reconstructive surgery is available to improve the appearance of the face. The craniofacial center will advise you on what to expect from such surgery and on optimum timing. Since not all children are affected to the same degree, both the necessity and the outcome of reconstructive surgery vary from child to child. Surgical procedures vary among surgical treatment centers and according to the severity of the conditions. Surgery to rebuild the cheek bones usually begins before the child reaches the age of five. It is believed that the best approach is to use the child's own bone and to avoid placing artificial material beneath the skin. At the time of this surgery, the outer corners of the eyes are usually raised to tighter the lower eyelids.
NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.


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