Stromme syndrome
An autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0016575
primary ciliary dyskinesia
is_a
MONDO:0043009
hereditary lethal multiple congenital anomalies/dysmorphic syndrome
is_a
CILD31
exact
STROMS
related
Stromme syndrome
exact
apple peel syndrome with microcephaly and ocular anomalies
exact
apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome
exact
ciliary dyskinesia, primary, 31
related
ciliary dyskinesia, primary, 31, formerly
related
ciliary dyskinesia, primary, type 31
exact
jejunal atresia with microcephaly and ocular anomalies
exact
jejunal atresia-microcephaly-ocular anomalies syndrome
exact
lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
exact
lethal foetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
exact