Handbook of Genetic Counseling/Acrofacial Dysostosis Syndrome
< Handbook of Genetic CounselingAcrofacial 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.
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