acrofacial dysostosis – miller syndrome

acrofacial dysostosis – miller syndrome

description

there are at least 2 conditions that are described as acrofacial dysostoses:- nager syndrome (preaxial acrofacial dysostosis) and miller syndrome (also known as wildervanck-smith syndrome, genee-wiedemann syndrome and postaxial acrofacial dysostosis). the name refers to the presence of both facial and distal (or acral) limb anomalies. most cases of nager syndrome have been sporadic. there have been reports of affected siblings and parental consanguinity for both nager and miller syndromes, suggesting the possibility of autosomal recessive inheritance. however, there have also been some families reported with vertical transmission, suggesting an autosomal dominant pattern of inheritance.

diagnosis

in miller and nager syndromes the face is similar to that in treacher-collins syndrome (mandibulo-facial dysostosis) with zygomatic hypoplasia resulting in downslanting palpebral fissures, lower lid colobomas (in 20% of cases) and absent lower lid eyelashes. there is usually marked micrognathia and cleft palate is also common. velopharyngeal insufficiency has also been noted in the absence of cleft. in miller syndrome there is postaxial agenesis of a digit of the hands and feet. preaxial anomalies are less common, although thumb abnormalities occur in about half of the patients. both radius and ulna tend to be short and there may be radio-ulnar synostosis.

differential diagnosis

cleft palate and external ear anomalies are more common in miller syndrome than in treacher-collins syndrome (mandibulofacial dysostosis).

sonographic features

micrognathia cleft lip/palate

postaxial limb deficiency

shortened radius and ulna

cardiac defects 

pda

vsd

endocardial cushion defect

genito-urinary anomalies

associated syndromes

references

  1. fryns jp, van den berghe h brief clinical report: acrofacial dysostosis with postaxial limb deficiency am j med genet 29:205-208
  2. donnai d, et alpostaxial acrofacial dysostosis (miller) syndrome j med genet 24:422-425
    miller m, et alpostaxial acrofacial dysostosis syndromej pediatr 95:970-975