Neurofaciodigitorenal syndrome
historical
Synonyms: Freire Maia-Pinheiro-Opitz syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- historical
Neurofaciodigitorenal syndrome is a rare multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neurofaciodigitorenal syndrome | Freire Maia-Pinheiro-Opitz syndrome |
| fr | Syndrome neuro-facio-digito-rénal | Syndrome de Freire Maia-Pinheiro-Opitz |
| de | Neuro-fazio-digito-renales Syndrom | Freire-Maia-Pinheiro-Opitz -Syndrom |
| es | Síndrome neuro-facio-dígito-renal | Síndrome de Freire-Maia-Pinheiro-Opitz |
| it | Sindrome neuro-facio-digito-renale | Sindrome di Freire-Maia-Pinheiro-Opitz |
| nl | Neurofaciodigitorenaal syndroom | Syndroom van Freire-Maia-Pinheiro-Opitz |
| pt | Síndrome neuro-facio-digito-renal | Síndrome Freire-Maia-Pinheiro-Opitz |
| pl | Zespół nerwowo-twarzowo-palcowo-nerkowy | Zespół Freire Maia, Pinheiro i Opitza |
| cs | Neurofaciodigitorenální syndrom | Freire Maiaův-Pinheirové-Opitzův syndrom · Freire Maia-Pinheiro-Opitzův syndrom |
| uk | Нейрофаціодигіторенальний синдром | Синдром Фрейре Майя-Пінхейро-Опітца |
| zh | 神经面指肾综合征 | Freire-Maia-Pinheiro-Opitz综合征 |
| tr | Neurofasiyodijitorenal sendromu | Freire Maia-Pinheiro-Opitz sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 256690 | NTBT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0009740 | E | validated | |
| MeSH | C537388 | E | validated | |
| UMLS | C0796088 | E | validated | |
| GARD | 3964 | 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:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
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 | 3 cases | Worldwide | Case(s) | Validated | 7081297[PMID]_9354842[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7081297[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
30 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0011830 | Abnormal oral mucosa morphology | |
| HP:0000377 | Abnormal pinna morphology | |
| HP:0009912 | Abnormal tragus morphology | |
| HP:0009896 | Abnormality of the antitragus | |
| HP:0000413 | Atresia of the external auditory canal | |
| HP:0000248 | Brachycephaly | |
| HP:0010650 | Hypoplasia of the premaxilla | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000369 | Low-set ears | |
| HP:0011220 | Prominent forehead | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0004322 | Short stature | |
| HP:0001199 | Triphalangeal thumb | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0009832 | Abnormal distal phalanx morphology of finger | |
| HP:0009811 | Abnormality of the elbow | |
| HP:0000288 | Abnormality of the philtrum | |
| HP:0001131 | Corneal dystrophy | |
| HP:0000028 | Cryptorchidism | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000286 | Epicanthus | |
| HP:0000316 | Hypertelorism | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000767 | Pectus excavatum | |
| HP:0001357 | Plagiocephaly | |
| HP:0000508 | Ptosis | |
| HP:0000122 | Unilateral renal agenesis | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2673
- This record as JSON: /data/d/2673.json