GTR Home > Conditions/Phenotypes > Miller syndrome

Summary

Miller syndrome, or postaxial acrofacial dysostosis, is a rare autosomal recessive disorder characterized clinically by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, and supernumerary nipples (summary by Ng et al., 2010). [from OMIM]

Available tests

14 tests are in the database for this condition. Compare labs offering these tests.

Check Associated genes for additional relevant tests.

Associated genes

Clinical features

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  • Pyloric stenosis
  • Strabismus
  • Conical tooth
  • Finger syndactyly
  • Midgut malrotation
  • Low-set, posteriorly rotated ears
  • Malar flattening
  • Postnatal growth retardation
  • Downslanted palpebral fissures
  • Micrognathia
  • Syndactyly
  • Cleft palate
  • Aplasia/Hypoplasia of the radius
  • Cryptorchidism
  • Micropenis
  • Abnormality of the kidney
  • Cleft upper lip
  • Low-set ears
  • Cupped ear
  • Conductive hearing impairment
  • Choanal atresia
  • Cleft eyelid
  • Ectropion
  • Pectus excavatum
  • Congenital hip dislocation
  • Abnormality of the foot
  • Supernumerary nipples
  • Malformation of the heart and great vessels
  • Supernumerary vertebrae
  • Radioulnar synostosis
  • Hypoplasia of the radius
  • Abnormality of the ulna
  • Hypoplasia of the ulna
  • Abnormal dermatoglyphics
  • Short thumb
  • Cheekbone underdevelopment
  • Non-midline cleft lip
  • Camptodactyly of finger
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