ORPHA:627
Nance-Horan syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Neonatal
- Status
- active
A rare X-linked dominant multiple congenital anomalies/dysmorphic syndrome characterized by congenital cataracts with microcornea, dental anomalies, and facial dysmorphism.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Nance-Horan syndrome | |
| fr | Syndrome de Nance-Horan | |
| de | Nance-Horan-Syndrom | |
| es | Síndrome de Nance-Horan | |
| it | Sindrome di Nance-Horan | |
| nl | Syndroom van Nance-Horan | |
| pt | Síndrome Nance-Horan | |
| pl | Zespół Nance'a i Horana | |
| cs | Nanceův-Horanové syndrom | Nanceův syndrom · Nance-Horanové syndrom |
| uk | Синдром Нанса-Горана | |
| zh | Nance-Horan综合征 | |
| tr | Nance-Horan sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 302350 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0010545 | E | validated | |
| MeSH | C538336 | E | validated | |
| UMLS | C0796085 | E | validated | |
| GARD | 7161 | 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 (5):
- ORPHA:98649Dentocutaneous disease with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:183580Genetic malformation syndrome with odontal and/or periodontal component
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NHS | Disease-causing germline mutation(s) in | Assessed | HGNC:7820 | ENSG00000188158 | 300457 | Xp22.2-p22.13 | NHS actin remodeling regulator | 20332100[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 424 cases | Worldwide | Case(s) | Validated | 27616609[PMID]_ORPHANET | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_27616609[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
27 annotations · validated 2026-06-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0000518 | Cataract | |
| HP:0000276 | Long face | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000482 | Microcornea | |
| HP:0000639 | Nystagmus | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000448 | Prominent nose | |
| HP:0000505 | Visual impairment | |
| HP:0000572 | Visual loss | |
| Frequent (79-30%) | ||
| HP:0001249 | Intellectual disability | |
| HP:0012413 | Notched primary central incisor | |
| HP:0000411 | Protruding ear | |
| HP:0007663 | Reduced visual acuity | |
| HP:0033782 | Semilunar tooth | |
| HP:0010049 | Short metacarpal | |
| HP:0000486 | Strabismus | |
| HP:0011069 | Supernumerary tooth | |
| Occasional (29-5%) | ||
| HP:0000708 | Atypical behavior | |
| HP:0000717 | Autism | |
| HP:0000414 | Bulbous nose | |
| HP:0000699 | Diastema | |
| HP:0000501 | Glaucoma | |
| HP:0002705 | High, narrow palate | |
| HP:0000568 | Microphthalmia | |
| HP:0011092 | Mulberry molar | |
| HP:0000541 | Retinal detachment | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 41236159 [PMID]_37221585[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/627
- This record as JSON: /data/d/627.json