Cleft lip/palate-intestinal malrotation-cardiopathy syndrome
Synonyms: McPherson-Clemens syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare multiple congenital anomaly syndrome characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs may be additionally observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cleft lip/palate-intestinal malrotation-cardiopathy syndrome | McPherson-Clemens syndrome |
| fr | Syndrome de fente labiopalatine-malrotation-cardiopathie | Syndrome de McPherson-Clemens |
| de | Lippen-Kiefer-Gaumenspalte-intestinale Malrotation-Kardiopathie-Syndrom | Mcpherson-Clemens-Syndrom |
| es | Síndrome de fisura labiopalatina-malrotación intestinal-cardiopatía | Síndrome de Mcpherson-Clemens |
| it | Sindrome da labio/palatoschisi - malrotazione intestinale - cardiopatia | |
| nl | Gespleten lip/verhemelte - intestinale malrotatie - cardiopathie-syndroom | Syndroom van McPherson-Clemens |
| pt | Síndrome de fenda lábio-palatina-malrotação intestinal-cardiopatia | Síndrome Mcpherson-Clemens |
| pl | Rozszczep wargi/podniebienia - malrotacja jelit - kardiopatia | Zespół McPhersona i Clemensa |
| cs | Syndrom zahrnující rozštěp rtu/patra, intestinální malrotaci a kardiopatii | McPhersonův-Clemensův syndrom · McPherson-Clemensův syndrom |
| uk | Синдром розщілини губи/піднебіння-кишкової мальротації-кардіопатії | Синдром Макферсона-Клеменса |
| zh | 唇/腭裂-肠旋转不良-心脏病综合征 | McPherson-Clemens综合征 |
| tr | Yarık dudak / damak-bağırsak malrotasyonu-kardiyopati sendromu | McPherson-Clemens sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601165 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0011008 | E | validated | |
| MeSH | C538160 | E | validated | |
| UMLS | C2931750 | E | validated | |
| GARD | 3430 | 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 (3):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial 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 | 5 cases | Worldwide | Case(s) | Validated | 8779326[PMID]_9415467[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8779326[PMID]_9415467[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
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0012368 | Flat face | |
| HP:0005469 | Flat occiput | |
| HP:0000316 | Hypertelorism | |
| HP:0000347 | Micrognathia | |
| HP:0000470 | Short neck | |
| Frequent (79-30%) | ||
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0004383 | Hypoplastic left heart | |
| HP:0000582 | Upslanted palpebral fissure | |
| Occasional (29-5%) | ||
| HP:0001679 | Abnormal aortic morphology | |
| HP:0010297 | Bifid tongue | |
| HP:0011304 | Broad thumb | |
| HP:0002566 | Intestinal malrotation | |
| HP:0001643 | Patent ductus arteriosus | |
Run the differential on the 6 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2001
- This record as JSON: /data/d/2001.json