Home > D. Systemic pathology > Genetic and developmental anomalies > acrorenal-mandibular syndrome

acrorenal-mandibular syndrome

MIM.200980 SYD:25

Friday 2 September 2005

Autosomal recessive inherited malformative syndrome.

Synopsis

- craniofacial anomalies

  • mandibular hypoplasia (very hypoplastic mandible)
  • narrow head
  • downslanting palpebral fissures
  • slight webbing of the neck
  • low-set posteriorly rotated ears
  • long flat philtrum, choanal stenosis

- renal anomalies

  • dysplastic polycystic kidneys
  • bilateral renal agenesis
  • duplex renal collecting system
  • bilateral renal hypoplasia

- right diaphragmatic hernia
- genital anomaies

  • uterus didelphys
  • uterus unicornis
  • septate uterus

- skeletal anomalies

  • rib and vertebral anomalies

- limb deficiencies

  • split feet
  • split hand
  • foot claw-like deformity associating ectrodactyly, syndactyly, and polydactyly
  • midflexion contractures of the left shoulder and elbow joints
  • varus deformity of the feet

References

- Evans, J. A.; Phillips, S.; Reed, M.; Chodirker, B. N. :
Severe acro-renal-uterine-mandibular syndrome. Am. J. Med. Genet. 93: 67-73, 2000. PubMed ID : #10861684#

- Halal, F.; Desgranges, M.-F.; Leduc, B.; Theoret, G.; Bettez, P. : Acro-renal-mandibular syndrome. Am. J. Med. Genet. 5: 277-284, 1980. PubMed ID : #7405959#

- Tobias, E. S.; Patrick, W. J. A.; MacKenzie, J. R.; Whiteford, M. L. : A case of acro-renal-mandibular syndrome in an 18 week male fetus. Clin. Dysmorph. 10: 61-64, 2001. PubMed ID : #11152151#

Portfolio

  • Acrorenal-mandibular syndrome
  • Acrorenal-mandibular syndrome
  • Severe mandibular hypoplasia in acrorenal-mandibular syndrome