OMIM ID:
Strømme Syndrome
Alternate Names
Defective Genes
Clinical Characteristics
Ocular Features
The core complex of Strømme syndrome consists of intestinal atresia and ocular abnormalities of the anterior segment. The ocular anomalies consist of variable amounts of angle dysgenesis, anterior synechiae, corneal leukoma, iris colobomas and hypoplasia, sclerocornea, cataracts, and sometimes microcornea. However, microphthalmia, tortuous retinal vessels, and optic nerve hypoplasia may also be present. Hypertelorism and deep-set eyes have been described. Glaucoma has not been reported. Only about 10 cases have been reported since Strømme 's first report in 1993. Most patients have been too young for reliable acuity testing.
Systemic Features
The phenotype is highly variable. The ears are often large and low-set. Microcephaly is often present along with a cleft palate and micrognathia. The intestinal atresia seems to involve the jejunum primarily and is usually surgically correctable. The duodenum may also be involved and intestinal malrotation has been described. Myopathic changes in the myocardium have been seen along with small cardiomyoctes. Microcephaly seems to be progressive. Short stature has been noted and the amount of developmental delay is highly variable. Renal hypodysplasia and hydronephrosis have been described.
Some patients seem to develop and function almost normally while more severely affected individuals may not live beyond early infancy or childhood.
Genetics
Inheritance
Compound heterozygous mutations in the CENPF gene (1q41) segregate with this condition.
Pedigree
Autosomal recessive
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.