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Genetic counseling: Acrofacial Dysostosis Syndrome

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Acrofacial Dysostosis Syndrome

DefinitionEdit

  • A condition resulting from problems in the development of the first & second branchial arches. The first arches produce the nerves and muscles for chewing, the lower jaw, 2 middle ear bones, and a small part of the ears. The second arches produce the nerves & muscles of facial expression, 1 middle ear bone, most of the external ears, and parts of the bone above the larynx.

CharacteristicsEdit

  • underdevelopment of the cheek and jaw area (micrognathnia and malar hypoplasia)
  • feeding and breathing problems in infancy
  • down-sloping palpebral fissures
  • absence of the lower eyelashes
  • lack of development of the internal & external ear with temporary or long-term hearing loss
  • possible cleft palate
  • underdevelopment or absence of the thumb
  • shortened forearms & poor movement in the elbow/limited range of arm motion
  • stomach & kidney reflux
  • normal intellect
  • possible missing, overlapping, or webbing of the toes, clubfeet, hip dislocation, or underdeveloped ribs may occur

IncidenceEdit

  • very rare

EtiologyEdit

  • Unknown - may represent new mutations of an autosomal dominant trait or variable expression
  • Genetic testing is highly recommended

GeneticsEdit

  • located on chromosome 9q32

PrognosisEdit

  • may be lethal is there is lung hypoplasia

ManagementEdit

  • Possible need for a tracheostomy to help with breathing
  • Possible need for a gastrostomy tube to assure proper nutrition
  • craniofacial surgery to the jaw, cleft palate, & ears
  • plastic surgery for eye, jaw, ears
  • orthopedic surgery for arms, hands, feet, or toes
  • hearing screens
  • speech therapy for proper development
  • physical therapy to improve use of hands and feet

Differential DiagnosisEdit

  • Miller Syndrome
  • Genee-Wiedemann Syndrome
  • Treacher Collins Syndrome
  • Pierre Robin Sequence
  • Franschetti-Klein Syndrome
  • Goldenhar-Gorlin Syndrome
  • Oral-Facial-Digital Syndrome
  • Juberg-Hayward Syndrome (Orocraniodigital Syndrome)
  • Hemifacial Microsomia (HFM)
  • Trisomy 18 (micrognathnia & distal ectromelia)

ReferencesEdit

  • FACES: The National Craniofacial Association www.faces-cranio.org
  • The Foundation for Nager and Miller Syndromes (FNMS) www.nagerormillersynd.com
  • NORD www.rarediseases.org
  • Gorlin's Syndromes of the Head and Neck p. 652-3

NotesEdit

The information in this outline was last updated in 2001.



Material obtained under GFDL Licence from http://en.wikibooks.org/wiki/Handbook_of_Genetic_Counseling

Heckert GNU white Permission is granted to copy, distribute and/or modify this document under the terms of the GNU Free Documentation License, Version 1.2 or any later version published by the Free Software Foundation; with no Invariant Sections, no Front-Cover Texts, and no Back-Cover Texts. A copy of the license is included in the section entitled "GNU Free Documentation License."

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