ORPHA:978
ADULT syndrome
Synonyms: Acro-dermato-ungual-lacrimal-tooth syndrome · Pigment anomaly-ectrodactyly-hypodontia syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | ADULT syndrome | Acro-dermato-ungual-lacrimal-tooth syndrome · Pigment anomaly-ectrodactyly-hypodontia syndrome |
| fr | Syndrome ADULT | Syndrome de Propping-Zerres · Syndrome de pigment anormal-ectrodactylie-hypodontie |
| de | ADULT-Syndrom | Akro-Dermato-Ungual-Lakrimal-Zahn-Syndrom · Pigmentanomalie-Ektrodaktylie-Hypodontie-Syndrom · Propping-Zerres-Syndrom |
| es | Síndrome ADULT | Síndrome acro-dermato-ungueal-lacrimal-dental · Síndrome de anomalías pigmentarias-ectrodactilia-hipodontia |
| it | Sindrome ADULT | Anomalia della pigmentazione - ectrodattilia - ipodontia · Sindrome acro-dermo-ungueale-lacrimale-dentale · Sindrome di Propping-Zerres |
| nl | ADULT-syndroom | Acro-dermato-unguaal-lacrimaal-dentaal syndroom · Pigmentanomalie - ectrodactylie - hypodontie-syndroom · Syndroom van Propping Zerres |
| pt | Síndrome ADULT | Alterações pigmentares-ectrodactilia-hipodontia · Síndrome Propping-Zerres · Síndrome acro-dermo-ungueal-lacrimal-dentário |
| pl | Zespół ADULT | Zespół kończynowo - skórno - paznokciowo - łzowo - zębowy · Zespół zaburzeń pigmentu, ektrodaktylii i hipodoncji |
| cs | Syndrom zahrnující abnormální pigmentace, ektrodaktylii a hypodontii | ADULT syndrom · Akro-dermato-unguální-lakrimální-zubní syndrom |
| uk | Синдром ADULT | Акро-дермато-унгуально-слізно-зубний синдром · Синдром пігментної аномалії-ектродактилії-гіподонтії |
| zh | ADULT综合征 | 色素异常-外胚层发育不全-牙发育不全综合征 |
| tr | ADULT sendromu | Acro-dermato-toungual-lakrimal-diş sendromu · Pigment anomalisi-ektrodaktili-hipodonti sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 103285 | E | validated | |
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0007072 | E | validated | |
| MeSH | C538052 | E | validated | |
| UMLS | C1863204 | E | validated | |
| GARD | 384 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:98609EEC syndrome and related disorders
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare ophthalmic disorders - ORPHA:498477Ectrodactyly with and without other manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:183580Genetic malformation syndrome with odontal and/or periodontal component
rare genetic diseases - ORPHA:404574Genetic syndrome with limb reduction defects
rare genetic diseases - ORPHA:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological diseases - ORPHA:294955Syndrome with limb reduction defects
rare developmental anomalies during embryogenesis; rare bone diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TP63 | Disease-causing germline mutation(s) in | Assessed | HGNC:15979 | ENSG00000073282 | 603273 | 3q28 | tumor protein p63 | 17041931[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | Pr MANOUVRIER-HANU Sylvie[EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27469932[PMID]_22607287[PMID]_21078104[PMID]_16114047[PMID]_16724007[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.
6
HPO phenotypes
24 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001597 | Abnormal nail morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0000958 | Dry skin | |
| HP:0002213 | Fine hair | |
| HP:0006101 | Finger syndactyly | |
| HP:0100798 | Fingernail dysplasia | |
| HP:0001480 | Freckling | |
| HP:0000995 | Melanocytic nevus | |
| HP:0001803 | Nail pits | |
| HP:0000579 | Nasolacrimal duct obstruction | |
| HP:0200042 | Skin ulcer | |
| HP:0001839 | Split foot | |
| HP:0000963 | Thin skin | |
| HP:0001770 | Toe syndactyly | |
| HP:0100797 | Toenail dysplasia | |
| Frequent (79-30%) | ||
| HP:0006482 | Abnormal dental morphology | |
| HP:0002561 | Absent nipple | |
| HP:0001596 | Alopecia | |
| HP:0003187 | Breast hypoplasia | |
| HP:0002557 | Hypoplastic nipples | |
| HP:0002209 | Sparse scalp hair | |
| Occasional (29-5%) | ||
| HP:0000271 | Abnormality of the face | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 12 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/978
- This record as JSON: /data/d/978.json