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Acrofacial dysostosis is an umbrella term for several apparently distinctive genetic modifications. The disorder is characterized by distinctive craniofacial malformations, especially involving severe mandibular hypoplasia and preaxial and postaxial limb defects.

There are six types of acrofacial dysostosis.

  • Acrofacial dysostosis, Nager type (mandibulofacialdysostosis, split-hand deformity-mandibulofacial dysostosis)
  • Acrofacial dysostosis lethal type of Rodriguez
  • Acrofacial dysostosis, Weyers type (Weyers syndrome II)
  • Acrofacial dysostosis postaxial, Miller type (Miller syndrome)
  • Acrofacial dysostosis, Catania type
  • Acrofacial dysostosis, Palagonia type

All acrofacial dysostosis types are inherited as either autosomal dominant or recessive pattern.

Nager acrofacial dysostosis is a rare hereditary disorder marked by unusual facial development. Cleft lip/palate, defective development of bones in the jaw and arms, smaller than normal thumbs, hearing loss, and ear deformities are characteristics of this disorder.

Acrofacial dysostosis lethal type of Rodriguez is inherited as an autosomal recessive trait and is characterized by small stature, severe mandibular hypoplasia (micrognathia), phocomelia and oligodactyly of the upper limbs, absence of fistula, microtia, and cleft palate. Limb deficiencies are predominantly preaxial. The skin is thin and atrophic, vessels can be seen over the trunk, and elastosis perforans is present. There is a severe hypoplasia of the shoulder and pelvic girdles. Other features are severe internal organ anomalies, including arrhinencephaly and abnormal lung lobulation. The cardiovascular system presents congenital anomalies. The disorder is associated with early lethality. Most patients die of respiratory complications during the neonatal period, partly because of the presence of severe mandibular hypoplasia.

Weyers acrofacial dysostosis is present from birth, affects both sexes, and is 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, hypoplasia of the larynx. Congenital heart defect may be present.

Miller acrofacial dysostosis is thought to be inherited as an autosomal recessive trait and is apparent at birth. It is characterized by postaxial acrofacial dysostosis, which is defined by its postaxial limb deficiency. Craniofacial malformations, malar hypoplasia, severe micrognathia, cleft palate, small, protruding, “cup-shaped” ears, colobomas, drooping of the lower eyelids, and ectropion are seen. The limb abnormalities in infants and children may include severe hypoplasia, syndactyly, and/or absence of certain fingers and toes (e.g., fifth digits and, in some cases, fourth and third digits). Hypoplasia of the ulna and radius causes the forearms to appear unusually short.

Catania acrofacial dysostosis was reported in 1993 as a “new” form of acrofacial dysostosis. It is characterized by mild intrauterine growth retardation and postnatal shortness of stature, severe microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, mild preaxial, and especially more conspicuous postaxial upper limb involvement with short hands, simian creases, and mild interdigital webbing. Other features include genitourinary and gastrointestinal dysfunctions, ...

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