Osteoporosis-oculocutaneous hypopigmentation syndrome
Synonyms: Hernández-Fragoso syndrome · OOCHS
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic disease characterized by congenital oculocutaneous hypopigmentation, visual impairment, generalized osteoporosis with skeletal anomalies such as short stature, short neck and trunk, kyphosis, scoliosis, and platyspondyly, and dysmorphic facial features (including long philtrum, small mouth, micrognathia, and prominent ears). Moderate joint hyperelasticity and muscular hypotrophy have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Osteoporosis-oculocutaneous hypopigmentation syndrome | Hernández-Fragoso syndrome · OOCHS |
| fr | Syndrome d'ostéoporose-hypopigmentation oculocutanée | OOCHS · Syndrome d'Hernández-Fragoso |
| de | Osteoporose-okulokutane Hypopigmentierung-Syndrom | Hernández-Fragoso-Syndrom · OOCHS |
| es | Síndrome de osteoporosis-hipopigmentación oculocutánea | OOCHS · Síndrome de Hernández-Fragoso |
| it | Sindrome osteoporosi-ipopigmentazione oculocutanea | OOCHS · Sindrome di Hernández-Fragoso |
| nl | Osteoporose - oculocutane hypopigmentatie-syndroom | Hernández-Fragososyndroom · OOCHS |
| pt | Síndrome osteoporose-hipopigmentação oculo-cutânea | OOCHS · Síndrome Hernandez-Fragoso |
| pl | Osteoporoza - zespół hipopigmentacji oczno-skórnej | OOCHS · Zespół Hernandeza i Fragoso |
| cs | Syndrom zahrnující osteoporózu a okulokutánní hypopigmentaci | OOCHS · Hernándezův-Fragosův syndrom · Hernández-Fragosův syndrom |
| uk | Синдром остеопорозу-окулокутанної гіпопігментації | Синдром Ернандеса-Фрагосо · OOCHS |
| zh | 骨质疏松症-眼皮肤色素减退综合征 | Hernández-Fragoso综合征 |
| tr | Osteoporoz-okülokutan hipopigmentasyon sendromu | OOCHS · Hernández-Fragoso sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601220 | E | validated | |
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| ICD-11 | LD24.KY | NTBT | index | validated |
| MONDO | 0011020 | E | validated | |
| MeSH | C536062 | E | validated | |
| UMLS | C1832592 | E | validated | |
| GARD | 404 | 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 (1):
- ORPHA:93446Primary bone dysplasia with decreased bone density
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone 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_8721572[PMID] |
| Cases/families | 1 cases | Worldwide | Case(s) | Validated | 8721572[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
12 annotations · validated 2017-05-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000479 | Abnormal retinal morphology | |
| HP:0001022 | Albinism | |
| HP:0005599 | Hypopigmentation of hair | |
| HP:0001010 | Hypopigmentation of the skin | |
| HP:0002808 | Kyphosis | |
| HP:0000545 | Myopia | |
| HP:0000639 | Nystagmus | |
| HP:0000939 | Osteoporosis | |
| HP:0000980 | Pallor | |
| HP:0000926 | Platyspondyly | |
| HP:0004322 | Short stature | |
| HP:0000505 | Visual impairment | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 8721572[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2786
- This record as JSON: /data/d/2786.json