Cyprus facial-neuromusculoskeletal syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- historical
A rare multiple congenital anomalies/dysmorphic syndrome characterized by a specific facial appearance (consisting of a thickened, ridged, triangular skin fold extending from the glabella to the anterior fontanel, bilateral elevation of the medial portion of the eyebrows, hypertelorism, low-set ears, posteriorly rotated ears, and widow's peak), variable skeletal deformities, and neuromuscular and sensory defects, which can be incapacitating in some individuals. Reported features include limb muscle wasting, congenital kyphoscoliosis, hip dislocation, congenital talipes equinovarus, arthrogryposis, joint stiffness/ankyloses, ptosis, and cataracts. Intelligence is normal. There have been no further descriptions in the literature since 1992.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cyprus facial-neuromusculoskeletal syndrome | |
| fr | Syndrome neuro-musculo-squelettique type chypriote | |
| de | Fazio-neuro-muskulo-skelettales Syndrom, zyprischer Typ | |
| es | Síndrome neuromusculoesquelético facial de Chipre | |
| it | Sindrome neuro-muscolo-scheletrica, tipo cipriota | |
| nl | Cyprus faciaal-neuromusculoskeletaal syndroom | |
| pt | Síndrome facio-neuro-musculo-esquelético de Chipre | |
| pl | Cypryjski zespół twarzowo-nerwowo-mięśniowo-szkieletowy | |
| cs | Kyperský facioneuromuskuloskeletální syndrom | |
| uk | Кіпрський лицьовий нервово-мязово-скелетний синдром | |
| zh | Cyprus面部-神经肌肉骨骼综合征 | |
| tr | Kıbrıs yüz-nöromüsküloskeletal sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 123853 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0007413 | E | validated | |
| MeSH | C536229 | E | validated | |
| UMLS | C1852396 | E | validated | |
| GARD | 9487 | 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 (7):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:206634Genetic skeletal muscle disease
rare genetic diseases; rare neurological diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic 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 |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 1481843[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1481843[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/2674
- This record as JSON: /data/d/2674.json