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Acrofacial dysostosis, Catania type

Disease definition

A rare congenital acrofacial dysostosis characterized by mild intrauterine growth retardation, postnatal short stature, microcephaly, intellectual disability, moderate mandibulofacial dysostosis (including dental anomalies and/or malpositioning, microretrognathia, and malar hypoplasia), and mild pre- and postaxial limb hypoplasia with generalized brachydactyly, mild interdigital webbing, single transverse palmar creases and clinodactyly. Reported facial features include high forehead, widow's peak, downslanted palpebral fissures, sparse lateral eyebrows, and small or dysplastic ears. Variably associated features include frequent caries, preauricular fistulae, inguinal hernia, spina bifida occulta, and cryptorchidism and hypospadias in males.

ORPHA:1786

Classification level: Disorder
  • Synonym(s):
    • Opitz-Caltabiano syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or X-linked dominant 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q75.4
  • OMIM: 101805
  • UMLS: C2931762
  • MeSH: C538182
  • GARD: 494
  • MedDRA: -
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