[<< wikibooks] Handbook of Genetic Counseling/Acrofacial Dysostosis Syndrome
Acrofacial Dysostosis Syndrome


== Definition ==
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.


== Characteristics ==
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


== Incidence ==
very rare


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


== Genetics ==
located on chromosome 9q32


== Prognosis ==
may be lethal is there is lung hypoplasia


== Management ==
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 Diagnosis ==
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)


== References ==
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


== Notes ==
The information in this outline was last updated in 2001.