Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare genetic disease characterized by the presence of multiple café-au-lait macules and elevated rates of sister chromatid exchange demonstrated on cytogenetic testing. Pre- and postnatal growth deficiency with short stature, microcephaly, mild developmental delay, cardiomyopathy, and symptomatic gastro-esophageal reflux have also been described, while malar rash is typically absent.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome | |
| fr | Syndrome de retard de croissance intra-utérin-taches café-au-lait-augmentation du taux d'échanges entre chromatides soeurs | |
| de | Intrauterine Wachstumsverzögerung-kongenitale multiple Café-au-lait-Flecken-gesteigerter Schwesterchromatid-Austausch-Syndrom | |
| es | Síndrome de restricción del crecimiento intrauterino-múltiples máculas café con leche congénitas-elevada tasa de intercambio entre cromátidas hermanas | |
| it | Sindrome da ritardo della crescita prenatale, macchie caffè-latte congenite multiple, aumento degli scambi tra cromatidi fratelli | |
| nl | Intra-uteriene groeirestrictie - congenitale multipele café-au-lait vlekken - verhoogde uitwisseling van zusterchromatiden-syndroom | |
| pt | Síndrome de restrição de crescimento intra-uterino-máculas café com leite múltiplas congénitas-incremento de trocas entre cromátides irmãs | |
| pl | Zespół wrodzonych, licznych plam typu café-au-lait i zwiększonej wymiany chromatyd siostrzanych | |
| cs | Syndrom zahrnující vrozené četné skvrny barvy bílé kávy a zvýšenou výměnu mezi sesterskými chromatidami | |
| uk | Синдром внутрішньоутробної затримки росту-вроджених множинних макулопатій-підвищеного обміну сестринських хроматид | |
| zh | 先天性多发性咖啡斑-姐妹染色体交换增多综合征 | |
| tr | Doğumsal çoklu cafe-au-lait maküller-artmış kardeş kromatid değişim sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618097 | BTNT | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | KA20.1Y | NTBT | attributed | validated |
| MONDO | 0034991 | E | validated | |
| UMLS | C5567901 | 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 (2):
- ORPHA:183466Genetic hyperpigmentation of the skin
rare genetic diseases - ORPHA:79375Hyperpigmentation of the skin
rare skin diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RMI2 | Disease-causing germline mutation(s) in | Assessed | HGNC:28349 | ENSG00000175643 | 612426 | 16p13.13 | RecQ mediated genome instability 2 | 27977684[PMID] |
| TOP3A | Disease-causing germline mutation(s) in | Assessed | HGNC:11992 | ENSG00000177302 | 601243 | 17p11.2 | DNA topoisomerase III alpha | 30057030[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 27977684[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27977684[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/508512
- This record as JSON: /data/d/508512.json