Pyramidal molars-abnormal upper lip syndrome
historical
Synonyms: Ackerman fused molar roots syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- historical
A rare multiple congenital anomalies/dysmorphic syndrome characterized by a variable combination of dental, cutaneous, ocular, and bone abnormalities, including pyramidal and fused molar roots, taurodontism, an abnormal upper lip without a cupid's bow and thickened and wide philtrum, juvenile glaucoma, syndactyly, and clinodactyly. There have been no further descriptions in the literature since 1973.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pyramidal molars-abnormal upper lip syndrome | Ackerman fused molar roots syndrome |
| fr | Syndrome de molaires pyramidales-lèvre supérieure anormale | Syndrome de molaires avec racines fusionnées d'Ackerman |
| de | Pyramidale Molare-Oberlippenanomalie-Syndrom | Fusionierte Molarwurzel-Syndrom Ackerman |
| es | Síndrome de molares piramidales-labio superior anómalo | Síndrome de raíz molar fusionada de Ackerman |
| it | Sindrome molari piramidali-anomalie del labbro superiore | Molare piramidale - glaucoma - anomalia del labbro superiore |
| nl | Piramidale molaren - abnormale bovenlip-syndroom | Ackerman gefuseerde kieswortels-syndroom |
| pt | Síndrome molar piramidal-anomalia do lábio superior | Síndrome raízes molares fundidas Ackerman |
| pl | Zespół Ackermana | Pyramidal molar - jaskra - nieprawidłowa warga górna |
| cs | Ackermanův syndrom | Syndrom zahrnující pyramidální molární glaukom a abnormální horní ret |
| uk | Синдром пірамідальних молярів-аномальної верхньої губи | Синдром зрощених коренів молярів Аккермана |
| zh | 锥状磨牙-上唇畸形综合征 | Ackerman磨牙牙根融合综合征 |
| tr | Piramidal molarlar-anormal üst dudak sendromu | Ackerman kaynaşmış molar kök sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 200970 | E | validated | |
| ICD-10 | K00.2 | NTBT | attributed | validated |
| MONDO | 0008706 | E | validated | |
| MeSH | C538170 | E | validated | |
| UMLS | C1860167 | E | validated | |
| GARD | 469 | 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 (5):
- ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:183580Genetic malformation syndrome with odontal and/or periodontal component
rare genetic diseases - ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis
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 | 8 cases | Worldwide | Case(s) | Validated | 4349385[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_4349385[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/2561
- This record as JSON: /data/d/2561.json