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Genetic and Rare Diseases Information Center (GARD)

Orofaciodigital syndrome 1

Other Names for this Disease
  • OFD syndrome 1
  • OFD1
  • OFDI
  • OFDS 1
Related Diseases
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What are the signs and symptoms of Orofaciodigital syndrome 1?

Oral features of OFD1 may include a split (lobed) tongue, benign tumors of the tongue, cleft palatehypodontia (missing teeth), or other dental abnormalities. Facial features may include hypertelorism (increased width between the eyes), a small nose, micrognathia (small jaw) and other features. The fingers and toes may be short (brachydactyly), webbed or joined together (syndactyly), abnormally curved (clinodactyly), or have other abnormalities. There may be brain abnormalities (such as cysts) and kidney problems (such as polycystic kidney disease). About half of individuals with OFD1 have some degree of learning disability, which is usually mild. Almost all individuals with OFD1 are female.[1]
Last updated: 11/17/2010

The Human Phenotype Ontology provides the following list of signs and symptoms for Orofaciodigital syndrome 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Bifid tongue 90%
Broad alveolar ridges 90%
Cleft upper lip 90%
Frontal bossing 90%
Hypertelorism 90%
Wide nasal bridge 90%
Abnormality of the nares 50%
Cleft palate 50%
Clinodactyly of the 5th finger 50%
Cognitive impairment 50%
Cone-shaped epiphysis 50%
Facial asymmetry 50%
Finger syndactyly 50%
Foot polydactyly 50%
Incoordination 50%
Reduced bone mineral density 50%
Reduced number of teeth 50%
Seizures 50%
Short toe 50%
Underdeveloped nasal alae 50%
Pancreatic cysts 29%
Abnormality of dental enamel 7.5%
Alopecia 7.5%
Aneurysm 7.5%
Aplasia/Hypoplasia of the corpus callosum 7.5%
Brachydactyly syndrome 7.5%
Choanal atresia 7.5%
Coarse hair 7.5%
Cystic liver disease 7.5%
Dandy-Walker malformation 7.5%
Dental malocclusion 7.5%
Dry skin 7.5%
Elevated hepatic transaminases 7.5%
Epicanthus 7.5%
Exocrine pancreatic insufficiency 7.5%
Hearing impairment 7.5%
Hypertension 7.5%
Hypoplasia of the zygomatic bone 7.5%
Lip pit 7.5%
Multicystic kidney dysplasia 7.5%
Odontogenic neoplasm 7.5%
Otitis media 7.5%
Postaxial hand polydactyly 7.5%
Preaxial hand polydactyly 7.5%
Proteinuria 7.5%
Renal insufficiency 7.5%
Tarsal synostosis 7.5%
Telecanthus 7.5%
Tremor 7.5%
Myelomeningocele 5%
Abnormal cortical gyration -
Abnormality of cardiac morphology -
Abnormality of the cerebellum -
Abnormality of toe -
Agenesis of corpus callosum -
Agenesis of permanent teeth -
Alveolar ridge overgrowth -
Arachnoid cyst -
Carious teeth -
Clinodactyly -
Congenital onset -
Gray matter heterotopias -
Hepatic cysts -
Hepatic fibrosis -
High palate -
Hydrocephalus -
Hypoplasia of dental enamel -
Hypothalamic hamartoma -
Increased number of teeth -
Intellectual disability -
Lobulated tongue -
Low-set ears -
Median cleft lip -
Microretrognathia -
Milia -
Ovarian cyst -
Polycystic kidney dysplasia -
Polydactyly -
Porencephaly -
Radial deviation of finger -
Short stature -
Sparse hair -
Syndactyly -
Tongue nodules -
X-linked dominant inheritance -

Last updated: 10/1/2015

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

  1. Helga V Toriello, Brunella Franco. Oral-Facial-Digital Syndrome Type 1. GeneReviews. October 14, 2010; Accessed 11/10/2010.

Other Names for this Disease
  • OFD syndrome 1
  • OFD1
  • OFDI
  • OFDS 1
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.