Stromme syndrome

Preferred Label : Stromme syndrome;

Symbol : STROMS;

CISMeF acronym : CILD31; STROMS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Apple peel syndrome with microcephaly and ocular anomalies; CILD31; Jejunal atresia with microcephaly and ocular anomalies; Ciliary dyskinesia, primary, 31;

Description : Stromme et al. (1993) reported 2 sisters, the offspring of healthy, unrelated parents, who had apple peel jejunal atresia (see 243600), severe microcephaly, and ocular abnormalities. Both had normal karyotypes, and neither had evidence of mental retardation. Bellini et al. (2002) reported a case with this association and cited 2 others from the literature (Slee and Goldblatt, 1996; Stromme and Andersen, 1997). Their patient, a male infant born at term to unrelated parents, was noted at birth to have microcephaly and micrognathia. High jejunal atresia with apple peel deformity and colonic malrotation was surgically identified. Bilateral corneal leukomas were present, but ultrasound examination showed normal retina and optic nerves. An MRI of the brain at 2 months of age showed a microcephalic brain with normal myelination and without malformations or hydrocephalus. Head CT did not show cranial calcifications. High resolution karyotype and renal and cardiac ultrasound examinations were normal. TORCH studies were negative. At 4 months of age, his neurologic exam was normal except for slightly increased tone. Keegan et al. (2004) described a patient with microcephaly, jejunal atresia, aberrant right tracheobronchial tree, mild left blepharoptosis, and corectopia, left sectoral iris stromal hypoplasia and peripheral anterior synechia, and 46,XY sex reversal. The patient represented a multiple anomaly disorder similar to intestinal atresia/ocular anomalies/microcephaly syndrome but incorporating 46,XY sex reversal with testicular tissue as an additional feature. Van Bever et al. (2008) reported a 1-year-old girl, born to nonconsanguineous parents, who had apple peel jejunal atresia, microcephaly, microphthalmia, and anterior eye chamber abnormalities. Her parents were unaffected and she had a healthy younger sister. Chromosome analysis showed a 46,XX karyotype; no mutations were found in the candidate genes PITX2 (601542), FOXC1 (601090), PAX6 (607108), and;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the centromeric protein F gene (CENPF, 600236.0001);

Prefixed ID : #243605;

Details

Origin ID

243605;

UMLS CUI

C1855705;

Currated CISMeF NLP mapping
- Stromme syndrome [DO Concept]
- Stromme syndrome [ORDO Disease]
- Stromme syndrome (disorder) [SNOMED CT concept]
- jejunal atresia with microcephaly and ocular anomalies [MeSH concept]
- jejunal atresia with microcephaly and ocular anomalies [MeSH Supplementary Concept]
DO Cross reference
- Stromme syndrome [DO Concept]
Genes related to phenotype
- Centromeric protein f [OMIM gene]
HPO term(s)
- Accessory spleen [HPO term]
- Agenesis of corpus callosum [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral renal hypoplasia [HPO term]
- Cataract [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Cleft palate [HPO term]
- Congenital onset [HPO term]
- Deeply set eye [HPO term]
- Duodenal atresia [HPO term]
- Hydrocephalus [HPO term]
- Hydronephrosis [HPO term]
- Hypertelorism [HPO term]
- Intestinal malrotation [HPO term]
- Iris coloboma [HPO term]
- Jejunal atresia [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Microcornea [HPO term]
- Micrognathia [HPO term]
- Microphthalmia [HPO term]
- Myopathy [HPO term]
- Optic nerve hypoplasia [HPO term]
- Peters anomaly [HPO term]
- Preaxial polydactyly [HPO term]
- Prominent nasal bridge [HPO term]
- Retinal vascular tortuosity [HPO term]
- Sclerocornea [HPO term]
- Short columella [HPO term]
- Stillbirth [HPO term]
- Wide mouth [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome [ORDO Disease]
- Stromme syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Stromme syndrome [DO Concept]
- Stromme syndrome (disorder) [SNOMED CT concept]
- jejunal atresia with microcephaly and ocular anomalies [MeSH Supplementary Concept]
- jejunal atresia with microcephaly and ocular anomalies [MeSH concept]

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