Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterised by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome | |
| fr | Syndrome d'obésité-colite-hypothyroïdie-hypertrophie cardiaque-retard de développement | |
| de | Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome | |
| es | Síndrome de obesidad-colitis-hipotiroidismo-hipertrofia cardíaca-retraso del desarrollo | |
| it | Obesità - colite - ipotiroidismo - ipertrofia cardiaca - ritardo dello sviluppo | |
| nl | Obesitas - colitis - hypothyreoïdie - cardiale hypertrofie - ontwikkelingsachterstand-syndroom | |
| pt | Síndrome de obesidade-colite-hipotiroidismo-hipertrofia cardíaca-perturbação do desenvolvimento | |
| pl | Otyłość - zapalenie jelit - niedoczynność tarczycy - przerost serca - opóźnienie rozwoju | |
| cs | Syndrom zahrnující obezitu, kolitidu, hypotyreózu, hypertrofii srdce a opoždění vývoje | |
| uk | Синдром ожиріння-коліту-гіпотиреозу-гіпертрофії серця-затримки розвитку | |
| zh | 肥胖-结肠炎-甲状腺功能减退症-心肌肥厚-发育迟缓综合征 | |
| tr | Obezite-kolit-hipotiroidi-kardiyak hipertrofi-gelişme geriliği sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E03.8 | NTBT | attributed | validated |
| ICD-11 | 5A00.0Y | NTBT | attributed | validated |
| MONDO | 0019506 | E | validated | |
| UMLS | C4302879 | 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 (1):
- ORPHA:177107Syndromic hypothyroidism
rare genetic diseases; rare endocrine diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 17163533[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17163533[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
7 annotations · validated 2021-05-31| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001640 | Cardiomegaly | |
| HP:0002583 | Colitis | |
| HP:0000851 | Congenital hypothyroidism | |
| HP:0001363 | Craniosynostosis | |
| HP:0001263 | Global developmental delay | |
| HP:0003073 | Hypoalbuminemia | |
| HP:0001513 | Obesity | |
Annotation source: 17163533[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/88643
- This record as JSON: /data/d/88643.json