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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.
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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.
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Rare malformation, of which several syndromic
associations have been reported.
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No clear genetic background. Clinical data
support the hypothesis of autosomal dominant (X-linked inheritance, but also
recessive occurrences have been described).
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Unknown; caused by a mutation in the EVC gene
(mutant in Ellis-van Creveld syndrome), located at 4p16.
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At birth, the diagnosis is suspected on the clinical
aspect, characterized by varying severities of mandibulofacial dysostosis
with preand/or postaxial limb abnormalities.
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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.
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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.
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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 ...