Acrocephalopolysyndactyly Syndromes

Complex association of faciocranial dysmorphism.

• Acrocephalopolysyndactyly type I = Noack syndrome.
• Acrocephalopolysyndactyly type II = Carpenter syndrome (most common)
• Acrocephalopolysyndactyly type III = Sakati-Nyhan syndrome
• Acrocephalopolysyndactyly type IV = Goodman syndrome

Autosomal recessive. Gene locus unknown.

Unknown. May be related to accelerated maturation and premature differentiation of fibroblasts.

Based on the clinical findings at birth and skull radiography of premature craniosynostosis of cranial sutures.

The need to carefully assess the airway is obvious when treating a child. Midface hypoplasia with hypoplasia of the mandible may make mask fit difficult. During direct laryngoscopy, the larynx often cannot be visualized. Choanal atresia has been linked to these syndromes, so choanal patency should be checked before nasotracheal intubation. Radiographic studies of the cervical spine prior to anesthesia may be helpful. Airway strategies may include fiberoptic intubation, blind nasal intubation, or a laryngeal mask, but spontaneous ventilation and oxygenation must be maintained during these attempts. Neurosurgical complications of the acrocephalopolysyndactyly syndromes are progressive hydrocephalus, chronic tonsillar herniation, syringomyelia, and, although uncommon, respiratory standstill. Congenital heart disease must be ruled out, and pulmonary arterial pressure should be determined by echocardiography before the patient undergoes anesthesia. Check for visceral abnormalities before anesthesia.

Maintain spontaneous ventilation until the airway has been secured. The technical management of the airway must be prepared before induction of anesthesia. Surgical airway equipment and an surgeon experienced in airway management must be present in the operating room at all times.

Succinylcholine and other neuromuscular relaxants can be used safely. Normal sensitivity to hypnotic and sedative drugs.

At a Glance

Noack syndrome is very similar to Pfeiffer syndrome. Patients present with enlarged thumbs, duplication of the great toes, and moderate acrocephaly.

Synonym

Dominant type of acrocephalopolysyndactyly.

History

Named after Margot Noack, a 20th-century German physician.

Genetic Inheritance

Inherited as an autosomal dominant condition.

Clinical Aspects

The disease involves the hands and feet. Patients have enlarged thumbs and duplication of the great toes. Moderate acrocephaly. Considered identical to Pfeiffer syndrome.

Precautions before Anesthesia

Evaluate the head and neck anatomy in consideration of airway management (reduced size of nasopharynx, maxilla, mandible, limited mouth opening, anomalies of the palate and tracheal cartilage, combined with cervical spine abnormalities may lead to difficult airway management). Radiographs of the cervical spine may be helpful in the evaluation process. Request echocardiography for patients ...