Amish, Mennonite, and Hutterite
Genetic Disorder Database

Cerebro-osteo-nephrodysplasia

Disorder
OMIM #: 236450  (Click to access OMIM database)
Disorder: Cerebro-osteo-nephrodysplasia 
Also known as: COND 
Clinical
Phenotype: growth deficiency, microcephaly, sudden death, jaundice, optic atrophy, nephrotic syndrome, protruding tongue, 'flat' facies, upturned nose, opisthotonic posturing 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
Unknown
Last updated: 2020-02-03 

References
Lowry RB. (1997) A further case of Hutterite cerebro-osteo-nephrodysplasia. Am J Med Genet 72(4):386.
PubMed ID: 9375717 
Opitz JM, Lowry RB, Holmes TM, Morgan K. (1985) Hutterite cerebro-osteo-nephrodysplasia: autosomal recessive trait in a Lehrerleut Hutterite family from Montana. Am J Med Genet 22(3):521-9.
PubMed ID: 4061488 
Tachibana K. (2001) Cerebro-nephro-osteodysplasia (Hutterite type). Ryoikibetsu Shokogun Shirizu (33):356.
PubMed ID: 11462473 

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