Research Evidence
Peer-reviewed studies linked via MeSH term "Syndromes, Orofaciodigital" from the MEDLINE/PubMed database.
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New Insights into Cystic Kidney Diseases.
[object Object], [object Object], [object Object] et al. · Contrib Nephrol · 2018
PMID: 29734148Review
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
[object Object], [object Object], [object Object] et al. · J Med Genet · 2017
Utilizing the chicken as an animal model for human craniofacial ciliopathies.
[object Object], [object Object], [object Object] et al. · Dev Biol · 2016
Developmental disorders of the dentition: an update.
[object Object], [object Object], [object Object] et al. · Am J Med Genet C Semin Med Genet · 2013
[Simple febrile seizure, complex seizure, generalized epilepsy with febrile seizure plus, FIRES and new syndromes].
[object Object] · Medicina (B Aires) · 2013
PMID: 24072053Review
The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders.
[object Object], [object Object] · Dev Med Child Neurol · 2011
Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders.
[object Object], [object Object], [object Object] et al. · Biochim Biophys Acta · 2009
PMID: 19268652Review
The molecular basis of oral-facial-digital syndrome, type 1.
[object Object], [object Object] · Am J Med Genet C Semin Med Genet · 2009
PMID: 19876934Review
Milia: a review and classification.
[object Object], [object Object] · J Am Acad Dermatol · 2008
PMID: 18819726Review
Search all PubMed articles for Oral-facial-digital syndrome
Research data from MEDLINE/PubMed
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormality of the face
Very frequent (80-99%)HP:0000271
Extra oral frenum
Very frequent (80-99%)HP:0000191
Frontal protuberance
Very frequent (80-99%)HP:0002007
High arched palate
Very frequent (80-99%)HP:0000218
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Increased width of bridge of nose
Very frequent (80-99%)HP:0000431
Lobulate tongue
Very frequent (80-99%)HP:0000180
Midline cleft lip
Very frequent (80-99%)HP:0000161
Wide alveolar margins
Very frequent (80-99%)HP:0000187
Abnormality of the skull bones
Frequent (30-79%)HP:0000929
Ataxia
Frequent (30-79%)HP:0001251
Cleft of palate
Frequent (30-79%)HP:0000175
Cleft of upper lip
Frequent (30-79%)HP:0000204
Cone-shaped epiphyses
Frequent (30-79%)HP:0010579
Curvature of little finger
Frequent (30-79%)HP:0004209
Decreased bone mineral density Z score
Frequent (30-79%)HP:0004349
Down-slanting palpebral fissure
Frequent (30-79%)HP:0000494
Finger pointing in a different direction than usual
Frequent (30-79%)HP:0004097
Hamartoma of tongue
Frequent (30-79%)HP:0011802
Lingual nodules
Frequent (30-79%)HP:0000199
Mental-retardation
Frequent (30-79%)HP:0001249
Missing between one and six teeth
Frequent (30-79%)HP:0000668
Partial syndactyly
Frequent (30-79%)HP:0006101
Polycystic kidney dysplasia
Frequent (30-79%)HP:0000113
Polydactyly of the foot
Frequent (30-79%)HP:0001829
Polydactyly of the hand
Frequent (30-79%)HP:0001161
Seizures
Frequent (30-79%)HP:0001250
Short toes
Frequent (30-79%)HP:0001831
Small nasal alae
Frequent (30-79%)HP:0000430
Syndactyly
Frequent (30-79%)HP:0001159
Related Conditions
Orofacial-digital syndrome III(child)
OFD IV - Orofacial-digital syndrome IV(child)
Mohr syndrome(child)
Oro-facial digital syndrome type 9(child)
Oro-facial digital syndrome type 11(child)
Joubert syndrome with orofaciodigital defect(child)
Orofaciodigital syndrome type 10(child)
Oro-facial digital syndrome type 5(child)
Oro-facial digital syndrome type 8(child)
Orofaciodigital syndrome type 1(child)
Oro-facial digital syndrome type 12(child)
Orofaciodigital syndrome type 13(child)
Oro-facial digital syndrome type 14(child)
OFD18 - oral-facial-digital syndrome type 18(child)
Multiple malformation syndrome with facial-limb defects as major feature(parent)
Ectodermal dysplasia(parent)
Congenital abnormality of oral cavity(parent)
Congenital anomaly of digit(parent)
Genetic disease(parent)
Quick Facts
- SNOMED CT
- 52868006
- UMLS CUI
- C0029294
- Fully Specified Name
- Oral-facial-digital syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.