ORPHA:2750
Orofaciodigital syndrome type 1
Synonyms: OFD1 · OFDI · OFDSI · Oral-facial-digital syndrome type 1 · Papillon-Léage-Psaume syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare neurodevelopmental disorder in the ciliopathy group characterized by variable anomalies in affected females including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and viscera (kidneys, pancreas and ovaries). In males, it is mostly lethal, typically during the first or second trimester of pregnancy.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Orofaciodigital syndrome type 1 | OFD1 · OFDI · OFDSI · Oral-facial-digital syndrome type 1 · Papillon-Léage-Psaume syndrome |
| fr | Syndrome oro-facio-digital type 1 | OFD1 · OFDI · OFDS1 · OFDSI · Syndrome de Papillon-Léage-Psaume |
| de | Oro-fazio-digitales Syndrom Typ 1 | OFD1 · OFDI · OFDSI · Papillon-Léage-Psaume-Syndrom |
| es | Síndrome orofaciodigital tipo 1 | OFD1 · OFDI · OFDSI · Síndrome de Papillon-Léage-Psaume |
| it | Sindrome oro-facio-digitale tipo 1 | |
| nl | Orofaciodigitaal syndroom type 1 | OFD1 · OFDI · OFDSI · Oraal-faciaal-digitaal syndroom type 1 · Syndroom van Papillon-Léage-Psaume |
| pt | Síndrome oro-facio-digital tipo 1 | OFD1 |
| pl | Zespół ustno-twarzowo-palcowy typu 1 | OFD1 · OFDI · OFDSI · Zespół Papillona, Léage'a i Psaume'a · Zespół ustno-twarzowo-palcowy typu 1 |
| cs | Orofaciodigitální syndrom, typ 1 | OFD1 · OFDI · OFDSI · Papillon-Léageové-Psaumeův syndrom · Papillon-Léage-Psaumeův syndrom |
| uk | Орофаціодигітальний синдром, тип 1 | OFD1 · OFDI · OFDSI · Орально-лицево-пальцевий синдром, тип 1 · Синдром Папілона-Лежа-Псауме |
| zh | 口面指综合征1型 | Papillon-Léage-Psaume 综合征 |
| tr | Orofasiyodijital sendrom tip 1 | OFD1 · OFDI · OFDSI · Papillon-Léage-Psaume sendromu · Oral-fasiyal-dijital sendrom tip 1 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 311200 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD25.00 | NTBT | index | validated |
| MONDO | 0010702 | E | validated | |
| MeSH | C537134 | E | validated | |
| UMLS | C1510460 | E | validated | |
| GARD | 4121 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (8):
- ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:183460Genetic sebaceous gland anomaly
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:140997Orofaciodigital syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:79372Sebaceous gland anomaly
rare skin 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.
Codes that Orphanet moved or referred to this one:
- ORPHA:90649Orofaciodigital syndrome type 7 moved to · inactive
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| OFD1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2567 | ENSG00000046651 | 300170 | Xp22.2 | OFD1 centriole and centriolar satellite protein | 20301367[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.65 / 100 000 | France | Value and class | Validated | 22925539[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.2 / 100 000 | Europe | Value and class | Validated | 20301367[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
65 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000271 | Abnormality of the face | |
| HP:0000191 | Accessory oral frenulum | |
| HP:0000187 | Broad alveolar ridges | |
| HP:0002007 | Frontal bossing | |
| HP:0000218 | High palate | |
| HP:0000316 | Hypertelorism | |
| HP:0000180 | Lobulated tongue | |
| HP:0000161 | Median cleft lip | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0000929 | Abnormal skull morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0001251 | Ataxia | |
| HP:0000175 | Cleft palate | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0010579 | Cone-shaped epiphysis | |
| HP:0004097 | Deviation of finger | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000324 | Facial asymmetry | |
| HP:0006101 | Finger syndactyly | |
| HP:0001829 | Foot polydactyly | |
| HP:0011802 | Hamartoma of tongue | |
| HP:0001161 | Hand polydactyly | |
| HP:0000668 | Hypodontia | |
| HP:0001249 | Intellectual disability | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0001250 | Seizure | |
| HP:0001831 | Short toe | |
| HP:0000199 | Tongue nodules | |
| HP:0000430 | Underdeveloped nasal alae | |
| Occasional (29-5%) | ||
| HP:0000682 | Abnormality of dental enamel | |
| HP:0001732 | Abnormality of the pancreas | |
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0001596 | Alopecia | |
| HP:0001156 | Brachydactyly | |
| HP:0002299 | Brittle hair | |
| HP:0000453 | Choanal atresia | |
| HP:0000389 | Chronic otitis media | |
| HP:0002208 | Coarse hair | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0002617 | Dilatation | |
| HP:0000958 | Dry skin | |
| HP:0001332 | Dystonia | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0000286 | Epicanthus | |
| HP:0001738 | Exocrine pancreatic insufficiency | |
| HP:0000365 | Hearing impairment | |
| HP:0000126 | Hydronephrosis | |
| HP:0000822 | Hypertension | |
| HP:0010669 | Hypoplasia of the zygomatic bone | |
| HP:0100267 | Lip pit | |
| HP:0000347 | Micrognathia | |
| HP:0001056 | Milia | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0100612 | Odontogenic neoplasm | |
| HP:0010807 | Open bite | |
| HP:0001737 | Pancreatic cysts | |
| HP:0001162 | Postaxial hand polydactyly | |
| HP:0001177 | Preaxial hand polydactyly | |
| HP:0000093 | Proteinuria | |
| HP:0000083 | Renal insufficiency | |
| HP:0008070 | Sparse hair | |
| HP:0008368 | Tarsal synostosis | |
| HP:0000506 | Telecanthus | |
| HP:0001337 | Tremor | |
Run the differential on the 9 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2750
- This record as JSON: /data/d/2750.json