Stromme syndrome
Synonyms: Apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome · Jejunal atresia-microcephaly-ocular anomalies syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal
- Status
- active
A rare multiple congenital anomalies syndrome usually characterized by microcephaly, ocular anomalies such as microphthalmia, and apple-peel intestinal atresia. Facial dysmorphism is reported in some cases and may include narrow or sloped forehead, hypertelorism, microphthalmia, dysplastic, edematous deep-set eyes, short palpebral fissures, large or low set ears, broad nasal root, anteverted or broad nasal tip, long philtrum, micrognathia, thin upper vermillion, large mouth and skin tag on the cheek. Motor delay and intellectual disability have been reported. Heart, brain, craniofacial abnormalities, renal hypoplasia and other anomalies (e.g. lower limb edema, thrombocytopenia) are variably present. Rarely, cases without intestinal atresia, microcephaly or developmental delay can be found. Severe lethal cases have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Stromme syndrome | Apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome · Jejunal atresia-microcephaly-ocular anomalies syndrome |
| fr | Syndrome de Stromme | Syndrome d'apple peel-microcéphalie-anomalies oculaires · Syndrome d'atrésie jéjunale-microcéphalie-anomalies oculaires |
| de | Stromme-Syndrom | Apfelschalenartige Intestinalatresie-Augenanomalien-Mikrozephalie-Syndrom · Jejunalatresie-Mikrozephalie-Augenanomalien-Syndrom |
| es | Síndrome de Stromme | Síndrome de atresia intestinal en piel de manzana-anomalías oculares-microcefalia · Síndrome de atresia yeyunal-microcefalia-anomalías oculares |
| it | Sindrome di Stromme | |
| nl | Syndroom van Stromme | 'Appelschil' intestinale atresie - oculaire anomalieën - microcefalie-syndroom · Jejunale atresie - microcefalie - oculaire anomalieën-syndroom |
| pt | Síndrome Stromme | |
| pl | Zespół Strommego | = en |
| cs | Strommův syndrom | Syndrom zahrnující jejunální atrézii, mikrocefalii a oční anomálie · Syndrom zahrnující jejunální atrézii (syndrom jablečné slupky), oční anomálie a mikrocefalii |
| uk | Синдром Стромма | Синдром атрезії кишечнику - очних аномалій- мікроцефалії · Синдром атрезії тонкої кишки-мікроцефалії-очних аномалій |
| zh | Stromme综合征 | 苹果皮样肠闭锁-眼球异常-小头畸形综合征 |
| tr | Stromme sendromu | Jejunal atrezi-mikrosefali-oküler anomaliler sendromu · Apple-peel bağırsak atrezisi-oküler anomaliler-mikrosefali sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 243605 | E | validated | |
| ICD-10 | Q13.8 | NTBT | attributed | validated |
| MONDO | 0009477 | E | validated | |
| MONDO | 9477 | E | validated | |
| MeSH | C565460 | E | validated | |
| UMLS | C1855705 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (8):
- ORPHA:519276Anterior segment developmental anomaly with extraocular manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:716459Rare disorder with progressive retinal vasculopathy as a major feature
rare ophthalmic disorders - ORPHA:717348Rare genetic disorder with progressive retinal vasculopathy as a major feature
rare genetic diseases - ORPHA:156162Renal ciliopathy
rare genetic diseases - ORPHA:156165Retinal ciliopathy
rare genetic diseases - ORPHA:108969Syndromic intestinal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CENPF | Disease-causing germline mutation(s) in | Assessed | HGNC:1857 | ENSG00000117724 | 600236 | 1q41 | centromere protein F | 25564561[PMID]_26820108[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | 18203155[PMID]_26820108[PMID]_28407396[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28407396[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/506307
- This record as JSON: /data/d/506307.json