Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
Synonyms: HOPP syndrome · Hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome · Hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome · Hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome
- Type
- Disease
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome | HOPP syndrome · Hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome · Hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome · Hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome |
| fr | Syndrome d'hypotrichose-ostéolyse-périodontite-kératodermie palmoplantaire | Syndrome HOPP · Syndrome d'hypotrichose-hyperkératose palmoplantaire-acro-ostéolyse-périodontite · Syndrome d'hypotrichose-kératodermie palmoplantaire-acro-ostéolyse-périodontite · Syndrome d'hypotrichose-ostéolyse-périodontite-hyperkératose palmoplantaire |
| de | Hypotrichosis-Osteolysis-Periodontitis-Palmoplantarkeratose-Syndrom | HOPP-Syndrom · Hypotrichose-Keratosis palmoplantaris striata-Akroosteolyse-Periodontitis-Syndrom |
| es | Síndrome de hipotricosis-osteólisis-periodontitis-queratodermia palmoplantar | Síndrome HOPP · Síndrome de hipotricosis-hiperqueratosis palmoplantar estriada-acrooestólisis-periodontitis · Síndrome de hipotricosis-osteólisis-periodontitis-hiperqueratosis palmoplantar · Síndrome de hipotricosis-queratodermia palmoplantar estriada-acrooestólisis-periodontitis |
| it | Sindrome ipotricosi-osteolisi-periodontite-cheratoderma palmoplantare | Sindrome HOPP · Sindrome ipotricosi-cheratoderma palmoplantare striato-acroosteolisi-periodontite · Sindrome ipotricosi-ipercheratosi palmoplantare striato-acroosteolisi-periodontite · Sindrome ipotricosi-osteolisi-periodontite-ipercheratosi palmoplantare |
| nl | Hypotrichose-osteolyse-periodontitis-palmoplantaire keratodermie-syndroom | HOPP-syndroom · Hypotrichose-gestreepte palmoplantaire hyperkeratose-acro-osteolyse-periodontitis-syndroom · Hypotrichose-gestreepte palmoplantaire keratodermie-acro-osteolyse-periodontitis-syndroom · Hypotrichose-osteolyse-periodontitis-palmoplantaire hyperkeratose-syndroom |
| pt | Síndrome de hipotricose-osteólise-periodontite-queratodermia palmoplantar | Síndrome de hipotricose-osteólise-periodontite-hiperqueratose palmoplantar |
| pl | Zespół hipotrichoza-osteoliza-zapalenie przyzębia-rogowiec dłoniowo-podeszwowy | Zespół hipotrichoza-osteoliza-zapalenie przyzębia-hiperkeratoza dłoniowo-podeszwowa · Zespół HOPP |
| cs | Syndrom zahrnující hypotrichózu, osteolýzu, periodontitis a palmoplantární keratoderma | HOPP syndrom · Syndrom zahrnující hypotrichózu, osteolýzu, periodontitis a palmoplantární hyperkeratózu |
| uk | Синдром гіпотрихозу-остеолізу-періодонтиту-пальмоплантарної кератодермії | HOPP-синдром · Синдром гіпотрихозу-остеолізу-періодонтиту-пальмоплантарного гіперкератозу · Синдром гіпотрихозу - смугастого долонно-підошовного гіперкератозу - акроостеолізу - пародонтиту · Синдром гіпотрихозу - смугастої долонно-підошовної кератодермії - акроостеолізу - пародонтиту |
| zh | 少毛症-骨质溶解-牙周炎-掌跖角化综合征 | 少毛症-骨质溶解-牙周炎-掌跖角化综合征 |
| tr | Hipotrikoz-osteoliz-periodontitis-palmoplantar keratoderma sendromu | Hipotrikoz-çizgili palmoplantar keratoderma-akroosteolizis-periodontitis sendromu · Hipotrikoz-çizgili palmoplantar hiperkeratoz-akroosteoliz-periodontitis sendromu · HOPP sendromu · Hipotrikoz-osteoliz-periodontitis-palmoplantar hiperkeratoz sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607658 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | EC20.31 | NTBT | index | validated |
| MONDO | 0011884 | E | validated | |
| MeSH | C564357 | E | validated | |
| UMLS | C1843285 | 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 (3):
- ORPHA:98353Autosomal dominant disease associated 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:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological 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 |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_12207605[PMID] |
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 12207605[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/307936
- This record as JSON: /data/d/307936.json