Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare syndromic frontonasal dysplasia characterized by distinctive facial dysmorphic features including hypertelorism, almond-shaped palpebral fissures, nasal deformity with creased ridge, depressed or absent tip, and asymmetry and partial absence of nasal bones, and downturned corners of the mouth. Additional reported manifestations are limb anomalies (e. g. Poland anomaly, transverse limb agenesis, and anomalies of the hands and feet, such as camptodactyly, oligodactyly, clinodactyly, and syndactyly), frontonasal encephalocele, choanal atresia, congenital renal/cardiac malformations, and corpus callosum agenesis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome | |
| fr | Syndrome de dysplasie frontonasale-nez bifide-anomalies des membres supérieurs | |
| de | Frontonasale Dysplasie-bifide Nase-Anomalien der oberen Extremitäten-Syndrom | |
| es | Síndrome de displasia frontonasal-nariz bífida-anomalías de las extremidades superiores | |
| it | Sindrome displasia frontonasale - naso bifido - anomalie degli arti superiori | |
| nl | Frontonasale dysplasie - bifide neus - anomalieën van bovenste ledematen-syndroom | |
| pt | Síndrome de displasia frontonasal-nariz bífido-anomalias dos membros superiores | |
| pl | Zespół dysplazji czołowo-nosowej-rozszczepu nosa-wad kończyny górnej | |
| cs | Syndrom zahrnující frontonazální dysplázii, rozštěp nosu a anomálie horní končetiny | |
| uk | Синдром фронтоназальної дисплазії-роздвоєння носа та верхніх кінцівок | |
| zh | 额鼻发育不良-鼻裂-上肢异常综合征 | |
| tr | Frontonazal displazi-bifid burun-üst ekstremite anomalileri sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0035018 | E | validated | |
| UMLS | C5567892 | 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:250Frontonasal dysplasia
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 |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | 29136349[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29136349[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
22 annotations · validated 2018-11-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0010939 | Abnormal nasal bone morphology | |
| HP:0001155 | Abnormality of the hand | |
| HP:0002817 | Abnormality of the upper limb | |
| HP:0007874 | Almond-shaped palpebral fissure | |
| HP:0000456 | Bifid nasal tip | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0000324 | Facial asymmetry | |
| HP:0000316 | Hypertelorism | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0000431 | Wide nasal bridge | |
| HP:0000445 | Wide nose | |
| Occasional (29-5%) | ||
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0001631 | Atrial septal defect | |
| HP:0000453 | Choanal atresia | |
| HP:0008115 | Clinodactyly of the 3rd toe | |
| HP:0007330 | Frontoethmoidal encephalocele | |
| HP:0012165 | Oligodactyly | |
| HP:0001763 | Pes planus | |
| Excluded (0%) | ||
| HP:0001249 | Intellectual disability | |
Annotation source: 29136349[PMID]_15166289[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/521308
- This record as JSON: /data/d/521308.json