HUT (Hutterite)

Inheritance: autosomal recessive
Genes: unknown

COND

Microcephaly
Growth retardation
Jaundice
Optic atrophy
Renal dysplasia
Nephrotic syndrome
Abnormal facies
Short stature
Skeletal dysplasia
Irritability

Cerebro-Osteo-Nephrodysplasia

Clinical Characteristics

General description (for patients):

This is a rare disorder of the brain, with facial malformations and kidney failure.  It is evident at birth from the appearance of the face as well as short stature with disproportionate shortening of the arms and legs. Poor feeding, failure to thrive, mental retardation, irritability and inappropriate movements soon become evident, however, and death may occur in early childhood.


Medical description:  

Three Hutterite infants have been described with this malformation disorder.  The most severe involvement seems to be in the CNS and kidneys.  They appear short at birth (with disproportionate shortening of the limbs).   Initial development during the neonatal period may be unremarkable but within the first month irritability and abnormal motor movements are apparent.  Skeletal growth slows and mental retardation seems to be progressive. Extensor posturing of the trunk, decorticate posturing of the limbs, and poor eye fixation suggestive of cortical blindness are present.  The upper lip is elongated and the ears are small and malformed.  Laboratory data are scarce but one child died with signs of nephrotic syndrome.

Genetics:

This is a presumed autosomal recessive condition but nothing is known about the molecular genetics.  It has been described in two sisters born of consanguineous Hutterite parents, and in a first cousin.

Treatment:

None available.

Prognosis:

Severe CNS degeneration and renal failure lead to death in the first 2-3 years.

Ancillary treatments and support: 

Supportive care.

Specialists and specialty centers:

Neurologist, nephrologist, pediatrician.

References:

Opitz, J.M., Lowry, R.B., Holmes, T.M., and Morgan, K.:  Hutterite cerebro-osteo-nephrodysplasia: autosomal recessive trait in a Lehrerleut Hutterite family from Montana.  Am. J. Med. Genet. 22: 521-529, 1985.  PubMed ID: 4061488

Lowry, R.B.: A further case of Hutterite cerebro-osteo-nephrodysplasia. (Letter) Am. J. Med. Genet. 72: 386, 1997. PubMed ID: 9375717

Udler, Y., Halpern, G.J., Sher, C., Davidovitz, M., and Shohat, M.:  Further delineation of cerebro-osteo-nephrosis syndrome.  Am. J. Med. Genet. 72: 383-385, 1997.  PubMed ID: 9375716

Resources:

Hutterite Cerebro-osteo-nephrodysplasia Support Page