Contractures-ectodermal dysplasia-cleft lip/palate syndrome
Synonyms: Ladda-Zonana-Ramer syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive, X-linked recessive
- Age of onset
- Neonatal
- Status
- active
A rare ectodermal dysplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Contractures-ectodermal dysplasia-cleft lip/palate syndrome | Ladda-Zonana-Ramer syndrome |
| fr | Syndrome de contractures-dysplasie ectodermique-fente labiopalatine | Syndrome de Ladda-Zonana-Ramer |
| de | Kontrakturen-ektodermale Dysplasie-Lippen-Kiefer-Gaumenspalte-Syndrom | Ladda-Zonana-Ramer-Syndrom |
| es | Síndrome de contracturas-displasia ectodérmica-fisura labiopalatina | Síndrome de Ladda-Zonana-Ramer |
| it | Contratture - displasia ectodermica - labiopalatoschisi | Sindrome di Ladda-Zonana-Ramer |
| nl | Contracturen - ectodermale dysplasie - gespleten lip/gehemelte-syndroom | Syndroom van Ladda-Zonana-Ramer |
| pt | Síndrome de contraturas-displasia ectodérmica-fenda lábio-palatina | Síndrome Ladda-Zonana-Ramer · Síndrome de artrogripose-displasia ectodérmica-fenda lábio-palatina |
| pl | Przykurcze - dysplazja ektodermalna- rozszczep wargi/podniebienia | Zespół Ladda, Zonana i Ramera |
| cs | Syndrom zahrnující kontraktury, ektodermální dysplázii a rozštěp rtu/patra | Laddův-Zonanův-Ramerové syndrom · Ladda-Zonana-Ramerové syndrom |
| uk | Синдром контрактури-ектодермальної дисплазії-розщілини губи/піднебіння | Синдром Ладда-Зонана-Рамера |
| zh | 关节挛缩-外胚层发育不良-唇/腭裂综合征 | Ladda-Zonana-Ramer综合征 |
| tr | Kontraktürler-ektodermal displazi-yarık dudak / damak sendromu | Ladda-Zonana-Ramer sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 301815 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0010531 | E | validated | |
| MeSH | C538135 | E | validated | |
| UMLS | C2931745 | E | validated | |
| GARD | 1515 | 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 (4):
- ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - 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
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 | 7504881[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7504881[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
8 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002804 | Arthrogryposis multiplex congenita | |
| HP:0000175 | Cleft palate | |
| HP:0100543 | Cognitive impairment | |
| HP:0001263 | Global developmental delay | |
| HP:0000966 | Hypohidrosis | |
| HP:0000632 | Lacrimation abnormality | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0100335 | Non-midline cleft of the upper lip | |
Run the differential on the 8 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1484
- This record as JSON: /data/d/1484.json