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Rare condition characterized by 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. There may be underdevelopment or absence of the thumb, shortened forearms, and poor movement in the elbow.

Acrofacial Dysostosis 1; Treacher Collins Mandibulofacial Dysostosis Type with Limb Anomalies; Split-Hand Deformity Mandibulofacial Dysostosis.

Nager and de Reynier recognized this condition as a specific entity in 1948. Opitz (1987) suggested that Nager acrofacial dysostosis (AFD) represents an “anomaly” rather than a syndrome because of its apparent causal heterogeneity.

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

No clear genetic background and no molecular data. Most cases have been sporadic. However, it has also been suggested that a dominant mutation was possible. In 1987, the presentation of a father and child consistent with Nager syndrome supported an autosomal dominant inheritance, but no further investigations were able to sustain this observation. It has been reported that a deletion of the heterochromatic block and adjacent euchromatin of chromosome 1q was possible. In this situation, the affected child also presented with severe aortic stenosis and right pulmonary bronchial stenosis. This association with a deletion of chromosome 1q may suggest that this gene region contains crucial information for normal limb, craniofacial, and/or cardiopulmonary development. The association with chromosome 9 has been reported. An infant with Nager syndrome and a chromatid gap within band 3p14 was reported, but there remains no indication that this disease is genetic rather than sporadic. Opitz (1987) suggested that Nager AFD represents an “anomaly” rather than a syndrome because of its apparent causal heterogeneity.

No known pathophysiologic explanation for this medical condition.

The diagnosis seems mostly clinical and radiologic. The limb deformities consist of absence of radius, radioulnar synostosis, and hypoplasia or absence of the thumbs. The mandibulofacial dysostosis is characterized mainly by severe micrognathia and malar hypoplasia. They suggested that ptosis of the lower lids, hypoplasia of the lower lid eyelashes, and cartilaginous pegs between the antitragus and lobule are minimal expressions of the syndrome. At birth, the diagnosis is suspected based on the clinical aspect, characterized by varying severities of mandibulofacial dysostosis with preaxial and/or postaxial limb 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, conductive hearing loss, and radial limb hypoplasia. Neonates may present respiratory or feeding problems because of severe mandibular hypoplasia. Upper limb malformation is a constant feature of Nager syndrome and ranges from thumb hypoplasia to the absence of the radial ray. Intelligence is usually normal. Neurologic: Hydrocephalus, agenesis of corpus callosum, polymicrogyria, and spinal cord defects are reported. Airway: Absence of zygomatic arches associated with hypoplastic malar ...

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