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.