Weyers Syndrome II

Syndrome present from birth, affecting both sexes, and characterized by postaxial polydactyly of the hands and feet, hexadactyly and fusion of fifth and sixth metatarsals and metacarpals, and 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.

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Acrofacial Dysostosis Weyers type; Acrodental Dysostosis; Curry-Hall Syndrome; Weyers Acrodysplasia.

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.

Rare malformation, of which several syndromic associations have been reported.

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

Unknown; caused by a mutation in the EVC gene (mutant in Ellis-van Creveld syndrome), located at 4p16.

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

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, 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.

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.

Refer to Treacher Collins syndrome. The craniofacial abnormalities associated with trismus, retroplaced tongue, and airway obstruction make tracheal intubation difficult and challenging. It is strongly recommended to preserve spontaneous ventilation at all times until the trachea has been intubated and lung ventilation is confirmed. The availability of a laryngeal mask airway in case of failure to intubate the trachea is highly recommended. Fiberoptic equipment will be needed. The child must be carefully assessed postoperatively and extubated when awake. At birth, in cases of life-threatening airway obstruction, use of a laryngeal mask has proved to be successful.

Muscle relaxants and opioids should be avoided before tracheal intubation. Sleep apnea contraindicates any sedation before airway access.

Acrofacial Dysostosis: An Overview Nager Type: Malar hypoplasia, maxillary and mandibular hypoplasia, cleft lip or palate, retroplaced tongue, radial defects (preaxial limb deficiency), downward slanting palpebral fissures, absent eyelashes (medial third of lower lids), dysplastic ears and conduction deafness, trismus, and respiratory problem in neonates. Inheritance: uncertain.

Acrofacial Dysostosis Richieri-Costa and Pereira form: Laryngeal malformations; severe facial and skeletal anomalies; mandibulofacial dysostosis with bilateral radial ray anomalies. Autosomal-recessive inheritance.

Miller Syndrome: Mandibulofacial dysostosis similar to Treacher Collins syndrome, Postaxial limb deficiency.