ORPHA:1388
Pierre-Robin sequence-Manzke dysostosis-clinodactyly of the index finger syndrome
Synonyms: Pierre-Robin sequence-hyperphalangy and clinodactyly of the index finger syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pierre-Robin sequence-Manzke dysostosis-clinodactyly of the index finger syndrome | Pierre-Robin sequence-hyperphalangy and clinodactyly of the index finger syndrome |
| fr | Syndrome de séquence de Pierre Robin-dysostose de Manzke-clinodactylie du doigt index | Syndrome de séquence de Pierre Robin-hyperphalangie et clinodactylie du doigt index |
| de | Catel-Manzke-Syndrom | Palatodigitales Syndrom Typ Catel-Manzke · Pierre-Robin-Sequenz mit Hyperphalangie und Klinodaktylie des Zeigefingers · CATMANS |
| es | Síndrome de secuencia de Pierre-Robin-disostosis de Manzke-clinodactilia del dedo índice | Síndrome de secuencia de Pierre-Robin-hiperfalangia y clinodactilia del dedo índice |
| it | Sindrome sequenza di Pierre-Robin-disostosi di Manzke-clinodattilia del dito indice | Sindrome sequenza di Pierre-Robin-iperfalangia e clinodattilia del dito indice |
| nl | Pierre Robin sequentie - Manzke-dysostose - clinodactylie van wijsvinger-syndroom | Pierre Robin sequentie - hyperfalangie en clinodactylie van wijsvinger-syndroom |
| pt | Síndrome Catel-Manzke | Síndrome Pierre-Robin-hiperfalangia-clinodactilia |
| pl | Zespół Catela i Manzkego | Anomalia palca wskazującego - zespół Pierre'a i Robina · Hiperfalangia-klinodaktylia palca wskazującego z zespołem Pierre'a i Robina · Micrognathia digital syndrome · Sekwencja Pierre'a i Robina - hiperfalangia - klinodaktylia · Zespół Pierre'a i Robina - hiperfalangia - klinodaktylia · Zespół Pierre'a i Robina z hiperfalangią i klinodaktylią · Zespół podniebienno-palcowy, typ Catela i Manzke |
| cs | Catelův-Manzkeho syndrom | Hyperfalangie a klinodaktylie ukazováku s Pierre Robinovým syndromem · Mikrognatie-digitální syndrom · Syndrom zahrnující Pierre Robinovu sekvenci, hyperfalangii a klinodaktylii · Anomálie ukazováku a Pierre Robinův syndrom · Palatodigitální syndrom, Catelův-Manzkeho typ · Syndrom zahrnující Pierre Robinův syndrom, hyperfalangii a klinodaktylii · Catel-Manzkeho syndrom · Palatodigitální syndrom, Catel-Manzkeho typ |
| uk | Синдром Кателя - Манцке | Гіперфалангія-клінодактилія вказівного пальця при синдромі Пєра Робена · Аномалія вказівного пальця - синдром Пєра Робена · Мікрогнатія-дігітальний синдром · Палатодігітальний синдром, тип Кателя-Манцке · Синдром послідовності Пєра Робена- гіперфалангії-клінодактилії · Синдром Пєра Робена - гіперфалангічно-клінодактильний синдром |
| zh | Catel-Manzke综合征 | 多指-食指弯曲畸形伴Pierre Robin综合征 |
| tr | Catel-Manzke sendromu | Mikrognati dijital sendromu · Palatodijital sendrom, Catel-Manzke tipi · İşaret parmağı anomalisi-Pierre Robin sendromu · Pierre Robin dizisi-hiperfalji-klinodaktili sendromu · Pierre Robin sendromu-hiperfalji-klinodaktili sendromu · Pierre Robin sendromlu işaret parmağında hiperfalanji-klinodaktili |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616145 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0014507 | E | validated | |
| MeSH | C535347 | E | validated | |
| UMLS | C1844887 | E | validated | |
| GARD | 28 | E | validated | |
| MedDRA | 10083949 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- 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:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:294959Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TGDS | Disease-causing germline mutation(s) in | Assessed | HGNC:20324 | ENSG00000088451 | 616146 | 13q32.1 | TDP-glucose 4,6-dehydratase | 25480037[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 33 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
25 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0000175 | Cleft palate | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0001508 | Failure to thrive | |
| HP:0000162 | Glossoptosis | |
| HP:0000272 | Malar flattening | |
| HP:0000347 | Micrognathia | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000389 | Chronic otitis media | |
| HP:0000293 | Full cheeks | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0001387 | Joint stiffness | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0002650 | Scoliosis | |
| HP:0004322 | Short stature | |
| HP:0001629 | Ventricular septal defect | |
| Occasional (29-5%) | ||
| HP:0001631 | Atrial septal defect | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0000316 | Hypertelorism | |
| HP:0001382 | Joint hypermobility | |
| HP:0010508 | Metatarsus valgus | |
| HP:0010285 | Oral synechia | |
| HP:0000767 | Pectus excavatum | |
| HP:0009467 | Radial deviation of the 2nd finger | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 7 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1388
- This record as JSON: /data/d/1388.json