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At a glance

This is a medical condition with an onset of symptoms at birth, affecting both sexes, and characterized by postaxial polydactyly of the hands and feet, hexadactyly and fusion of fifth and sixth metatarsals and metacarpals, as well as bony clefts of the mandibular symphysis. Other features include orodental anomalies, hypoplastic and dysplastic nails, short stature, micrognathia, small mouth, and hypoplasia of the larynx. Congenital heart defect may be present.

Synonyms

Acrofacial Dysostosis Weyers Type; Acrodental Dysostosis; Curry-Hall Syndrome; Weyers Acrodysplasia; Weyers Acrofacial Dysplasia.

Nature

Acrofacial dysostoses associated with mandibulofacial dysostosis, limb defects, and various associated anomalies. They represent a heterogeneous group, which supports the hypothesis that the malformations result from polytopic field defects arising during blastogenesis.

Incidence

It is a rare malformation and the exact incidence remains unknown.

Genetic inheritance

No clear genetic background. Clinical data support the hypothesis of autosomal dominant (X-linked inheritance, but also recessive occurrences have been described).

Pathophysiology

Unknown. It is caused by a mutation in the EVC gene (mutant in ☞Ellis-van Creveld Syndrome), located at 4p16.

Diagnosis

At birth, the diagnosis is suspected on the clinical aspect, characterized by varying severities of mandibulofacial dysostosis with pre- and/or postaxial limb abnormalities.

Clinical aspects

In the heterogeneous group of this syndrome with combined defects of craniofacial and limb development, there are several clinical aspects according to the craniofacial and limb malformations, and their association with other visceral or bone abnormalities. In the predominant facial form, called Nager Acrofacial Dysostosis, the facial changes resemble strikingly those of the ☞Treacher Collins Syndrome: malar hypoplasia, maxillomandibular hypoplasia, and cleft lip or palate. Neonates may present with respiratory or feeding problems. Upper limb malformation is a constant feature of ☞Nager Syndrome and ranges from thumb hypoplasia to the absence of the radial ray.

Precautions before anesthesia

In neonates, make a careful research of associated abnormalities of the heart, brain, kidney, or urogenital tract by echography. Vertebral malformations, especially cervical, must be looked for by radiographic exploration. Evaluate and anticipate the airway obstruction and difficult tracheal intubation.

Weyers Syndrome II: Facial dysmorphism in a 12-year-old girl with acrofacial dysostosis.

Weyers Syndrome II: Characteristic anomaly of the hand with shortening of the thumb in an adult with acrofacial dysostosis.

Anesthetic considerations

Refer to ☞Treacher Collins Syndrome. The craniofacial abnormalities associated with trismus, retroplaced tongue, and airway obstruction makes tracheal intubation difficult and challenging. ...

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