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 with congenital cardiac lesions. Preoperative chest radiograph may be helpful. Preoperative blood workup should include a complete blood count, electrolytes, creatinine, and blood urea nitrogen (BUN). Keep in mind that the incidence of increased intracranial pressure is 15% with one fused suture and increases to 35% with two or more sutures affected.

Anesthetic Considerations

Mental retardation may lead to poor cooperation upon separation from the parents or during induction of anesthesia. Difficult airway management should be expected. Maintenance of spontaneous ventilation and oxygenation during attempts to control the airway is strongly recommended. Be prepared to use alternative techniques to manage the airway (laryngeal mask, fiberoptic intubation). A surgeon familiar with surgical airway management and the necessary equipment should always be present in the operating room. Specific anesthetic measures are required in case of congenital heart disease or increased intracranial pressure. The eyes must be carefully protected because of the high risk for corneal damage as a result of proptosis.

Pharmacological Implications

Sedative premedication in patients with increased intracranial pressure should be used with caution and under supervision of trained personnel only. Hypotensive anesthesia most often is achieved using volatile anesthetics, opioids, and/or sympathoadrenergic receptor-blocking drugs. Avoid nitrous oxide secondary to risk of venous air embolism. Antibiotic prophylaxis for subacute bacterial endocarditis may be necessary.

At a Glance

Craniosynostosis, acrocephaly, peculiar facies, syndactyly, short stature, midface or mandible hypoplasia, short neck, and high arched palate. Cardiac malformations.

(Figure)

History

First described by George Carpenter (1859-1910), a British physician.

Genetic Inheritance

Autosomal recessive inheritance.

Clinical Aspects

Typically evident at or shortly after birth. The head is acrocephalic and often called the “tower-shaped skull” (turricephaly), resulting from craniosynostosis including coronal, sagittal, and lambdoid sutures. Increased intracranial pressure may occur. The skull can appear brachycephalic (short and broad). Other features include facial anomalies of hypertelorism, mild downward slanting of the palpebral fissures, microcornea, corneal opacity, and optic atrophy. The nose appears dysplastic with depressed nasal bridge, the ears are low-set, and upper and lower jaws are hypoplastic with a narrow and high arched palate. The syndrome often is associated with brachydactyly, with absence of the middle phalanges, cutaneous syndactyly, and presence of supernumerary toes. Polydactyly is not as frequent. Congenital heart defects present in up to 50% of cases (atrial septal defect, ventricular septal defect, patent ductus arteriosus, tetralogy of Fallot, pulmonary stenosis, and transposition of great vessels have been reported). Mild-to-moderate obesity and cryptorchidism occur in affected males. Mental retardation most often is present, but some patients with normal intelligence have been reported.

Precautions before Anesthesia

Evaluate the head and neck anatomy in consideration of airway management (reduced size of nasopharynx, maxilla, mandible, 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 with congenital cardiac lesions. Because up to one third of the children have intraoperative respiratory problems (mainly significant wheezing in patients with recent airway infection), the threshold to cancel the procedure in these patients in the presence of an active or recent upper airway infection should be low. Preoperative chest radiograph may be helpful. Preoperative blood workup should include a complete blood count, electrolytes, creatinine, and BUN. Keep in mind that the incidence of increased intracranial pressure is 15% with one fused suture and increases to 35% with two or more sutures affected.

Anesthetic Considerations

Mental retardation may lead to poor cooperation upon separation from the parents or during induction of anesthesia. Difficult airway management should be expected. Maintenance of spontaneous ventilation and oxygenation during attempts to control the airway is strongly recommended. Be prepared to use alternative techniques to manage the airway (laryngeal mask, fiberoptic intubation). A surgeon familiar with surgical airway management and the necessary equipment should always be present in the operating room. Specific anesthetic measures are required in case of congenital heart disease or increased intracranial pressure. The eyes must be carefully protected because of the high risk for corneal damage because of proptosis.

Pharmacological Implications

Sedative premedication in patients with increased intracranial pressure should be used with caution and under supervision of trained personnel only. Hypotensive anesthesia most often is achieved using volatile anesthetics, opioids, and/or sympathoadrenergic receptor-blocking drugs. Avoid nitrous oxide because of the risk of venous air embolism. Antibiotic prophylaxis for subacute bacterial endocarditis may be necessary.

Other Condition to Be Considered

Summitt Syndrome is a variant of Carpenter syndrome. Patients present with obesity and normal intelligence.

References

At a Glance

Patients present with severe acrocephaly and distinctive leg defects (hypoplastic tibia, bowed femora, coxa valga). Other features include brachydactyly, duplication of the first toe, preaxial polydactyly, and congenital heart disease.

Synonyms

Acrocephalopolysyndactyly with Leg Hypoplasia; Sakati Syndrome.

History

First described by Nadia Sakati, William Leo Nyhan, and W.K. Tisdale, 20th-century American physicians.

Genetic Inheritance

Autosomal dominant inheritance is most likely. Advanced parental age may be a risk factor.

Diagnosis

Radiographs confirm osseous anomalies.

Clinical Aspects

Craniosynostosis and acrocephaly. Small face with prognathism, maxillary hypoplasia, dysplastic low-set ears, and short neck with low hairline are common findings. Congenital heart defects, preaxial polydactyly, and distinctive leg anomalies (coxa valga, bowed femora, hypoplastic tibia) are additional findings. No treatment of the underlying disorder is available.

Precautions before Anesthesia

Evaluate the head and neck anatomy in consideration of airway management (reduced size of nasopharynx, maxilla, mandible, 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 with congenital cardiac lesions. Because up to one third of the children have intraoperative respiratory problems (mainly significant wheezing in patients with recent airway infection), the threshold to cancel the procedure in these patients in the presence of an active or recent upper airway infection should be low. Preoperative chest radiograph may be helpful. Preoperative blood workup should include a complete blood count, electrolytes, creatinine, and BUN. Keep in mind that the incidence of increased intracranial pressure is 15% with one fused suture and increases to 35% with two or more sutures affected.

Anesthetic Considerations

Mental retardation may lead to poor cooperation upon separation from the parents or during induction of anesthesia. Difficult airway management should be expected. Maintenance of spontaneous ventilation and oxygenation during attempts to control the airway is strongly recommended. Be prepared to use alternative techniques to manage the airway (laryngeal mask, fiberoptic intubation). A surgeon familiar with surgical airway management and the necessary equipment should always be present in the operating room. Specific anesthetic measures might be required in the presence of congenital heart disease (antibiotic prophylaxis for subacute bacterial endocarditis may be required) or increased intracranial pressure. The eyes must be carefully protected because of the high risk for corneal damage because of proptosis.

Pharmacological Implications

Sedative premedication in patients with increased intracranial pressure should be used with caution and under supervision of trained personnel only. Hypotensive anesthesia is most often achieved using volatile anesthetics, opioids and/or sympathoadrenergic receptor-blocking drugs. Avoid nitrous oxide secondary to the risk of venous air embolism. Antibiotic prophylaxis for subacute bacterial endocarditis may be necessary.

References

At a Glance

Extremely rare genetic disorder characterized by marked malformations of the head and face, polysyndactyly, and congenital heart defects, which may result in early death. Includes ulnar deviation with clinodactyly and camptodactyly. Believed to be a variant of Carpenter syndrome.

Synonyms

Acrodynia; Pink Disease; Feer Disease.

Nature

Since the cause was identified in 1955 (mercury-containing paint, especially latex paint), the incidence in the general population is decreasing.

Incidence

Incidence decreasing since 1955 in the general population because the causes are well identified (paint containing mercury, especially latex paint).

Genetic Inheritance

Autosomal recessive inheritance.

Diagnosis

High mercury level in urine.

Clinical Aspects

Acrocephaly secondary to craniosynostosis and syndactyly, clinodactyly, and camptodactyly. Ulnar deviation seems characteristic the association with congenital. Congenital heart defects has been reported: one child died of Eisenmenger syndrome. Hydrocephalus and raised intracranial pressure occur, especially in patients with several fused sutures.

Precautions before Anesthesia

Evaluate the head and neck anatomy in consideration of airway management (reduced size of nasopharynx, maxilla, mandible, 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 with clinical suspicion of congenital cardiac lesions. Preoperative chest radiograph may be helpful. Preoperative blood workup should include a complete blood count, electrolytes, creatinine, and BUN. Keep in mind that the incidence of increased intracranial pressure is 15% with one fused suture and more than 35% with two or more sutures affected.

Anesthetic Considerations

Mental retardation may lead to poor cooperation upon separation from the parents or during induction of anesthesia. Difficult airway management should be expected. Maintenance of spontaneous ventilation and oxygenation during attempts to control the airway is strongly recommended. Be prepared to use alternative techniques to manage the airway (laryngeal mask, fiberoptic intubation). A surgeon familiar with surgical airway management and the necessary equipment should always be present in the operating room. Specific anesthetic measures might be required in the presence of congenital heart disease or increased intracranial pressure. The eyes must be carefully protected because of the high risk for corneal damage as a result of proptosis.

Pharmacological Implications

Sedative premedication in patients with increased intracranial pressure should be used with caution and under supervision of trained personnel only. Hypotensive anesthesia is most often achieved using volatile anesthetics, opioids, and/or sympathoadrenergic receptor-blocking drugs. Avoid nitrous oxide secondary to the risk of venous air embolism. Antibiotic prophylaxis for subacute bacterial endocarditis may be necessary.

References