ORPHA:2751
Orofaciodigital syndrome type 2
Synonyms: Oral-facial-digital syndrome type 2 · Mohr syndrome · OFD2
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare developmental disorder in the ciliopathy group characterized by craniofacial, oral and digital features.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Orofaciodigital syndrome type 2 | Oral-facial-digital syndrome type 2 · Mohr syndrome · OFD2 |
| fr | Syndrome oro-facio-digital type 2 | OFD2 · Syndrome de Mohr |
| de | Oro-fazio-digitales Syndrom Typ 2 | Mohr-Syndrom · OFD2 |
| es | Síndrome orofaciodigital tipo 2 | OFD2 · Síndrome de Mohr |
| it | Sindrome orofaciodigitale, tipo 2 | OFD2 · Sindrome di Mohr · Sindrome oro-facio-digitale, tipo 2 |
| nl | Orofaciodigitaal syndroom type 2 | OFD2 · Oraal-faciaal-digitaal syndroom type 2 · Syndroom van Mohr |
| pt | Síndrome oro-facio-digital tipo 2 | OFD2 · Síndrome Mohr |
| pl | Zespół ustno-twarzowo-palcowy typu 2 | Zespół ustno-twarzowo-palcowy typu 2 · OFD2 · Zespół Mohra |
| cs | Orofaciodigitální syndrom, typ 2 | OFD2 · Mohrův syndrom |
| uk | Орофаціодигітальний синдром, тип 2 | Синдром Мора · OFD2 · Орально-лицево-пальцевий синдром, тип 2 |
| zh | 口面指综合征2型 | Mohr综合征 |
| tr | Orofasiyodijital sendrom tip 2 | OFD2 · Mohr sendromu · Oral-fasiyal-dijital sendromu tip 2 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 252100 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD25.00 | NTBT | index | validated |
| MONDO | 0009642 | E | validated | |
| MeSH | C538585 | E | validated | |
| UMLS | C0026363 | E | validated | |
| GARD | 3701 | E | validated | |
| MedDRA | 10078419 | 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 (4):
- 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: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
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NEK1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7744 | ENSG00000137601 | 604588 | 4q33 | NIMA related kinase 1 | 27530628[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | Pr Marie-Paule VAZQUEZ [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
49 annotations · validated 2019-03-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000175 | Cleft palate | |
| Frequent (79-30%) | ||
| HP:0000190 | Abnormal oral frenulum morphology | |
| HP:0006289 | Agenesis of central incisor | |
| HP:0010297 | Bifid tongue | |
| HP:0010068 | Broad first metatarsal | |
| HP:0010055 | Broad hallux | |
| HP:0010100 | Complete duplication of hallux phalanx | |
| HP:0040019 | Finger clinodactyly | |
| HP:0006101 | Finger syndactyly | |
| HP:0011802 | Hamartoma of tongue | |
| HP:0000218 | High palate | |
| HP:0000685 | Hypoplasia of teeth | |
| HP:0000161 | Median cleft lip | |
| HP:0001841 | Preaxial foot polydactyly | |
| HP:0004322 | Short stature | |
| HP:0011819 | Submucous cleft soft palate | |
| HP:0000199 | Tongue nodules | |
| HP:0000431 | Wide nasal bridge | |
| HP:0006042 | Y-shaped metacarpals | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0002104 | Apnea | |
| HP:0100702 | Arachnoid cyst | |
| HP:0006695 | Atrioventricular canal defect | |
| HP:0007768 | Central retinal vessel vascular tortuosity | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0010230 | Cone-shaped epiphyses of the phalanges of the hand | |
| HP:0008947 | Floppy infant | |
| HP:0001263 | Global developmental delay | |
| HP:0001161 | Hand polydactyly | |
| HP:0005349 | Hypoplasia of the epiglottis | |
| HP:0009826 | Limb undergrowth | |
| HP:0004987 | Mesomelic leg shortening | |
| HP:0000347 | Micrognathia | |
| HP:0006342 | Peg-shaped maxillary lateral incisors | |
| HP:0005873 | Polysyndactyly of hallux | |
| HP:0001162 | Postaxial hand polydactyly | |
| HP:0000411 | Protruding ear | |
| HP:0005736 | Short tibia | |
| HP:0002789 | Tachypnea | |
| HP:0011087 | Talon cusp | |
| HP:0000679 | Taurodontia | |
| HP:0000506 | Telecanthus | |
| HP:0100874 | Thick hair | |
| HP:0410033 | Unilateral alveolar cleft of maxilla | |
| HP:0000220 | Velopharyngeal insufficiency | |
| Very rare (<4-1%) | ||
| HP:0009776 | Adactyly | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0000050 | Hypoplastic male external genitalia | |
| HP:0000695 | Natal tooth | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 17963220[PMID]_27141300[PMID]_23459408[PMID]_10482880[PMID]_10521839[PMID]_27530628[PMID]_8835325[PMID]_3608220[PMID]_6478638[PMID]_5293864[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2751
- This record as JSON: /data/d/2751.json