GTR Home > Conditions/Phenotypes > Nager syndrome


Nager syndrome is the prototype for a group of disorders collectively referred to as the acrofacial dysostoses (AFDs), which are characterized by malformation of the craniofacial skeleton and the limbs. The major facial features of Nager syndrome include downslanted palpebral fissures, midface retrusion, and micrognathia, the latter of which often requires the placement of a tracheostomy in early childhood. Limb defects typically involve the anterior (radial) elements of the upper limbs and manifest as small or absent thumbs, triphalangeal thumbs, radial hyoplasia or aplasia, and radioulnar synostosis. Phocomelia of the upper limbs and, occasionally, lower-limb defects have also been reported. The presence of anterior upper-limb defects and the typical lack of lower-limb involvement distinguishes Nager syndrome from Miller syndrome (263750), another rare AFD; however, distingushing Nager syndrome from other AFDs, including Miller syndrome, can be challenging (summary by Bernier et al., 2012). [from OMIM]

Available tests

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

Check Associated genes for additional relevant tests.

Associated genes

  • Also known as: RP11-196G18.20-002, AFD1, Hsh49, SAP49, SF3b49, SF3B4
    Summary: splicing factor 3b, subunit 4, 49kDa

Clinical features

  • Absent thumb
  • Short stature
  • Oligodactyly (feet)
  • Respiratory insufficiency
  • Hypoplasia of first ribs
  • Sparse lower eyelashes
  • triphalangeal thumb
  • Lower eyelid coloboma
  • Prominent nasal bridge
  • Talipes equinovarus
  • Microcephaly
  • Hallux valgus
  • Aplasia/Hypoplasia of the eyebrow
  • Absent radius
  • Posteriorly rotated ears
  • Hypoplasia of the epiglottis
  • Laryngeal hypoplasia
  • Renal hypoplasia/aplasia
  • Low-set, posteriorly rotated ears
  • Malar flattening
  • Limited elbow extension
  • Downslanted palpebral fissures
  • Micrognathia
  • Hydrocephalus
  • Premature birth
  • Radial deviation of finger
  • Urticaria
  • Cleft palate
  • Aplasia/Hypoplasia of the radius
  • Unilateral renal agenesis
  • Wide mouth
  • Cleft upper lip
  • Trismus
  • Velopharyngeal insufficiency
  • Hearing impairment
  • Low-set ears
  • Preauricular skin tag
  • Conductive hearing impairment
  • Atresia of the external auditory canal
  • Ptosis
  • Cleft eyelid
  • Delayed speech and language development
  • Bicornuate uterus
  • Limitation of joint mobility
  • Gastroschisis
  • Tetralogy of Fallot
  • Toe syndactyly
  • Short toe
  • Overlapping toe
  • Polymicrogyria
  • Neurological speech impairment
  • Aganglionic megacolon
  • Aqueductal stenosis
  • Malformation of the heart and great vessels
  • Scoliosis
  • Skeletal dysplasia
  • Hip dislocation
  • Radioulnar synostosis
  • Hypoplasia of the radius
  • Abnormality of the cervical spine
  • Abnormal nasal morphology
  • Aplasia/Hypoplasia of the thumb
  • Phocomelia
  • Broad hallux
  • Cheekbone underdevelopment
  • Non-midline cleft lip
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