ORPHA:140936
Lelis syndrome
Synonyms: Ectodermal dysplasia-acanthosis nigricans syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
Lelis syndrome is characterised by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lelis syndrome | Ectodermal dysplasia-acanthosis nigricans syndrome |
| fr | Syndrome de Lelis | Syndrome de dysplasie ectodermique-acanthosis nigricans |
| de | Lelis-Syndrom | |
| es | Síndrome de Lelis | Displasia ectodérmica-acantosis nigricans · Displasia ectodérmica-acantosis pigmentaria |
| it | Sindrome di Lelis | |
| nl | Syndroom van Lelis | Ectodermale dysplasie - acanthosis nigricans-syndroom |
| pt | Síndrome de Lelis | |
| pl | Zespół Lelis | Dysplazja ektodermalna - rogowacenie ciemne |
| cs | Lelisův syndrom | Syndrom zahrnující ektodermální dysplázii a acanthosis nigricans |
| uk | Синдром Леліса | Синдром ектодермальної дисплазії - акантоз нігтів |
| zh | Lelis 综合征 | 外胚层发育不良-黑棘皮病综合征 |
| tr | Lelis sendromu | Ektodermal displazi-akantozis nigrikans sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608290 | E | validated | |
| ICD-10 | Q82.4 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0012008 | E | validated | |
| MeSH | C564261 | E | validated | |
| UMLS | C1842307 | E | validated | |
| GARD | 10367 | 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 (1):
- ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 1628512[PMID]_12457412[PMID]_18627052[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1628512[PMID]_12457412[PMID]_18627052[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.
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HPO phenotypes
22 annotations · validated 2016-07-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0000956 | Acanthosis nigricans | |
| HP:0000966 | Hypohidrosis | |
| HP:0008070 | Sparse hair | |
| Very frequent (99-80%) | ||
| HP:0000153 | Abnormality of the mouth | |
| Frequent (79-30%) | ||
| HP:0000221 | Furrowed tongue | |
| HP:0000668 | Hypodontia | |
| HP:0001249 | Intellectual disability | |
| HP:0008404 | Nail dystrophy | |
| HP:0000972 | Palmoplantar hyperkeratosis | |
| HP:0010802 | Perioral hyperpigmentation | |
| Occasional (29-5%) | ||
| HP:0008388 | Abnormal toenail morphology | |
| HP:0001620 | Abnormally high-pitched voice | |
| HP:0007646 | Absent lower eyelashes | |
| HP:0000670 | Carious teeth | |
| HP:0000577 | Exotropia | |
| HP:0000276 | Long face | |
| HP:0000303 | Mandibular prognathia | |
| HP:0011800 | Midface retrusion | |
| HP:0005338 | Sparse lateral eyebrow | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0001045 | Vitiligo | |
| HP:0011367 | Yellow nails | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 12457412[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/140936
- This record as JSON: /data/d/140936.json