acrorenal-mandibular syndrome
MIM.200980 SYD:25
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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#