Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
Synonyms: Ectodermal dysplasia-short stature syndrome · Short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome | Ectodermal dysplasia-short stature syndrome · Short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome |
| fr | Syndrome d'anomalies des ongles et dents-kératodermie palmoplantaire marginale-hyperpigmentation buccale | Syndrome de dysplasie ectodermique-petite taille · Syndrome de petite taille-dysplasie des ongles-kératodermie palmoplantaire marginale-hyperpigmentation buccale |
| de | Nägel- und Zahn-Anomalien-marginale Palmoplantarkeratose-orale Hyperpigmentierung-Syndrom | Ektodermale Dysplasie-Kleinwuchs-Syndrom · Kleinwuchs-Nageldysplasie-marginales palmoplantares Keratoderm-orale Hyperpigmentierung-Syndrom |
| es | Síndrome de anomalías en uñas y dientes-queratodermia palmoplantar marginal-hiperpigmentación oral | Síndrome de displasia ectodérmica-talla baja · Síndrome de talla baja-displasia ungueal-queratodermia palmoplantar marginal-hiperpigmentación oral |
| it | Sindrome da anomalie delle unghie e dei denti - cheratoderma palmoplantare marginale - iperpigmentazione orale | Sindrome bassa statura-displasia delle unghie-cheratoderma palmoplantare marginale-iperpigmentazione orale · Sindrome displasia ectodermica-bassa statura |
| nl | Nagel- en tandafwijkingen - marginale palmoplantaire keratodermie - orale hyperpygmentatie-syndroom | Ectodermale dysplasie - kleine gestalte-syndroom · Kleine gestalte - nageldysplasie - marginale palmoplantaire keratodermie - orale hyperpigmentatie-syndroom |
| pt | Síndrome de anomalias das unhas e dentes-queratodermia palmoplantar marginal-hiperpigmentação oral | |
| pl | Zespół nieprawidłowości paznokci i zębów, rogowca dłoniowo-podeszwowego brzeżnego i hiperpigmentacji jamy ustnej | Zespół dysplazji ektodermalnek i niskiego wzrostu · Zespół niski wzrost, dysplazja paznokci, rogowiec dłoniowo-podeszwowy brzeżny i hiperpigmentacja jamy ustnej |
| cs | Syndrom zahrnující abnormality nehtů a zubů, marginální palmoplantární keratoderma a orální hyperpigmentaci | Syndrom zahrnující ektodermální dysplázii a malý vzrůst · Syndrom zahrnující malý vzrůst, dysplázii nehtů, marginální palmoplantární keratoderma a orální hyperpigmentaci |
| uk | Синдром аномалій нігтів і зубів-маргінальної долонно-підошовної кератодермії-гіперпігментації ротової порожнини | Синдром ектодермальної дисплазії - низького зросту · Синдром низькорослості - дисплазії нігтів - маргінальної долонно-підошовної кератодермії - гіперпігментації ротової порожнини |
| zh | 指甲和牙齿异常-边缘掌跖角皮病-口腔色素沉着综合征 | 外胚层发育不良症-身材矮小症综合征 |
| tr | Tırnak ve diş anormallikleri-marjinal palmoplantar keratoderma-oral hiperpigmentasyon sendromu | Boy kısalığı-tırnak displazisi-marjinal palmoplantar keratoderma-oral hiperpigmentasyon sendromu · Ektodermal displazi-kısa boy sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616029 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| MONDO | 0014460 | E | validated | |
| UMLS | C4014987 | 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:98357Autosomal recessive disease with focal palmoplantar keratoderma as a major feature
rare genetic diseases; rare skin diseases - ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:183466Genetic hyperpigmentation of the skin
rare genetic diseases - ORPHA:79375Hyperpigmentation of the skin
rare skin diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GRHL2 | Disease-causing germline mutation(s) in | Assessed | HGNC:2799 | ENSG00000083307 | 608576 | 8q22.3 | grainyhead like transcription factor 2 | 25152456[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 25152456[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25152456[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/423454
- This record as JSON: /data/d/423454.json