• Disease Overview
  • Synonyms
  • Subdivisions
  • Signs & Symptoms
  • Causes
  • Affected Populations
  • Disorders with Similar Symptoms
  • Diagnosis
  • Standard Therapies
  • Clinical Trials and Studies
  • References
  • Programs & Resources
  • Complete Report
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Oral-Facial-Digital Syndrome


Last updated: November 16, 2021
Years published: 1988, 1989, 1990, 1999, 2006, 2007, 2021


NORD gratefully acknowledges Srika Amin, MMSc, NORD Editorial Intern from the Emory University Genetic Counseling Training Program and Cecelia A. Bellcross, PhD, MS, CGC, Associate Professor, Director, Genetic Counseling Training Program, Emory University School of Medicine, for assistance in the preparation of this report.

Disease Overview

Oral-facial-digital syndrome (OFDS) is a group of conditions that affect the development of their oral cavity (mouth, tongue, teeth, and jaw), face (head, eyes and nose) and finger and toes (digits).

Common signs and symptoms include a split (cleft) in the lip and a tongue with an unusual lobed shape. There may also be growth of noncancerous tumors or nodules on the tongue. Affected people may have extra, missing, or differently shaped teeth. Another common feature is an opening in the roof of the mouth (cleft palate). Some people with OFDS have bands of extra tissue (gingival frenula) that attach the lip to the gums. Distinct facial features include a wide nose with a broad, flat nasal bridge and widely spaced eyes (hypertelorism). Fusion of certain digits (syndactyly), short digits (brachydactyly), curved digits (clinodactyly) or extra fingers/toes (polydactyly) are commonly seen in OFDS. People with OFDS also have issues with the development and structure of the brain. Mild to severe intellectual disability is seen in affected people.

There are 14 different types of OFDS, some of which are not well-defined. The signs and symptoms vary widely, making diagnosis difficult. OFDS type I is the most common, but all the OFDS types are very rare. Depending on the type of OFDS there can be other features related with the condition. For example, polycystic kidney disease, seizures, heart defects and distinct skeletal features.

Treatment is mainly supportive and depends on the signs and symptoms seen in each person.


OFDS type I was first reported by Papillon-Leage and Psaume in 1954 and further defined by Gorlin and Psaume in 1962. The first person with this condition was reported in 1941. Since then a number of different OFDS types with overlapping signs and symptoms have been described. The gene responsible for causing OFDS type I was identified in 2001 and for a while remained the only OFD gene known. In the last few years, a number of genes responsible for other types of OFDS have been identified.

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  • OFD syndrome
  • orofaciodigital syndrome
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  • OFDS type III (Sugarman syndrome)
  • OFDS type II (Mohr syndrome)
  • OFDS type I (Papillon-Leage-Psaume syndrome)
  • OFDS type IV (Baraitser-Burn syndrome)
  • OFDS type IX (OFD syndrome with retinal abnormalities/Gurrieri syndrome)
  • OFDS type VIII (Edwards syndrome)
  • OFDS type VI (Varadi-Papp syndrome)
  • OFDS type V (Thurston syndrome)
  • OFDS type X (OFD with fibular aplasia/Figuera syndrome)
  • OFDS type XI (Gabrielli syndrome/Toriello syndrome)
  • OFDS type XII (Moran-Barroso syndrome)
  • OFDS type XIII (Degner syndrome)
  • OFDS type XIV
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Signs & Symptoms

The various types of OFDS present with some combination of signs and symptoms from the list below.

Face and skin: Eyes set widely apart (hypertelorism), small eyes; eyes looking in different directions (strabismus), a small jaw, a loss of hair (alopecia), abnormalities in the structure of the nostrils; broad nose at the base and/or tip; one nostril smaller than the other; angled ears

Oral cavity: split in the lip (cleft lip); opening in the roof of the mouth (cleft palate); lobed or split tongue; tumors of the tongue; extra or missing teeth; smaller than usual jaw; over, under, or lateral bite; bands of extra tissue (gingival frenula) that attach the lip to the gums.

Fingers and Toes features: Extra fingers and/or toes (polydactyly); fused fingers (syndactyly), unusually short fingers (brachydactyly); webbed toes and/or fingers; clubfoot; rigid, bent fingers (clinodactyly)

Intellectual and central nervous system (CNS) problems: Intellectual disability of varying degrees; brain abnormalities; seizures; spastic movement and/or tics; delayed development of speech and motor control

Other: Reduction in growth; heart and kidney problems; sunken chest; vulnerability to respiratory infection

Characteristics associated with specific types of oral-facial-digital syndrome are described below.

OFDS type I disease (Papillon-Leage-Psaume syndrome)

OFDS type I is marked by coarse thin hair, grainy skin lesions (milia) on the face, and extra fingers on one hand (polysyndactyly). Polycystic kidney disease (PKD) is seen in around 50% of patients. PKD may not be seen until the affected person is a teenager.

Oral issues include: clefting of the hard or soft palate, cleft lip, tumors or nodules of the tongue, missing or extra teeth, multiple bands of extra tissue that abnormally attach the lip to the gums (gingival frenulae) and other dental issues. Facial features include widely spaced eyes, broad nasal bridge, small jaw and differently shaped nostrils. Issues with digits affecting the hands more often than the feet. These include short fingers (brachydactyly), fused fingers (syndactyly), bent fingers (clinodactyly) especially the fifth finger and extra fingers or toes (polydactyly).

Adult-onset polycystic kidney disease (PKD) leading to kidney failure is a distinct feature of OFDS type 1. It can be the presenting feature in females with mild signs and symptoms. PKD can lead to end-stage renal disease (ESRD). Central nervous system involvement includes brain malformations. People with OFDS type I have varying degrees of intellectual disability. The condition is mostly lethal in males due to its mode of inheritance. However, a few male patients have been reported. The males had chronic kidney diseases leading to ESRD, but with varying degrees of other oral-facial and digital defects and central nervous system involvement. Signs and symptoms of OFDS type I can vary within and between families.

OFDS type II disease (Mohr syndrome)

Has the same set of symptoms as those of Type I. It may also include the presence of extra toes on both feet (polydactyly) and the nose being split into two parts (bifid nose). Affected people do not have milia or polycystic kidney disease. They have thick hair and rarely have heart problems; cysts or cavities in the brain (porencephaly) or build-up of fluid in the brain (hydrocephaly).

OFDS type III (Sugarman syndrome)

Is characterized by seesaw winking in which the eye blinks (winks) as the jaw moves. Other features seen are extra fingers or toes (polydactyly), epilepsy-like myoclonic jerks, and profound intellectual disability. Some affected people have extra teeth, low-set ears, and broad tip of the nose. End stage kidney failure can occur in the teens and 20s.

OFDS type IV (Baraister-Burn syndrome)

Can be told apart from other types of OFDS by short tibias (bone in the leg, connecting the knee to the ankle) which leads to short limbs. An affected person’s chest may be sunken in. Kidney (renal) cysts, low-set ears and small jaw have been seen in people with OFDS type IV.

OFDS type V (Thurston syndrome)

Is marked by a midline cleft lip and extra fingers and toes (polydactyly) only. Bands of extra tissue that attach the lip to the gums (gingival frenulae) have been reported rarely. This type of OFDS has been seen mostly in people of Indian ancestry.

OFDS type VI (Varadi syndrome)

Is marked by extra toes and fingers. The extra digits are usually located between the second and third digits (central polydactyly). The kidney may be smaller than normal or even absent (renal agenesis/ renal dysplasia). Abnormal brain MRI results showing a molar tooth sign have been noted for people with OFDS type VI. Affected people may have varying degrees of intellectual disability.

OFDS type VII (Whelan syndrome)

Is the same as type I. OFDS type VII has been shown to be due to changes (mutations) in OFD1 gene and is no longer considered a separate type.

OFDS type VIII (Edwards syndrome)

Is characterized by extra fingers and toes (polydactyly) and shortening of some long bones of the arm (radius) and leg (tibia). It is also characterized by issues in the structure of the epiglottis (flap in the throat that prevents food from entering the windpipe and the lungs while swallowing). Other features include a midline cleft lip, large nose and the thumb being split into two (bifid thumb).

OFDS type IX (Gurrieri syndrome)

Clinical features include abnormal development of the retina, and cleft lip (usually lateral/located on the sides of the mouth). Affected people may have one eyeball smaller than the other, short stature, nodules on the tongue, and cleft palate. Heart problems like a hole in the heart (septal defects) have been reported.

OFDS type X (Figuera syndrome)

Common features include cleft palate, flat nasal bridge and gingival frenulae. The lower jaw is set behind the upper jaw (retrognathia) for some affected people. It is marked by the shortening of some long bones of the arm (radius) and the absence of the smaller bone of the lower leg (agenesis of the fibula). Other features seen are the presence of fewer than five fingers or toes on a hand or foot (oligodactyly).

OFDS XI (Gabrielli syndrome/Toriello syndrome)

Is characterized by incomplete or underdevelopment of the odontoid (tooth-like bony structure in the upper spine) and other defects in the spine. Other features seen are enlargement of the ventricles of the brain (ventriculomegaly), small holes near the ears (auricular pits) and underdeveloped eyelids causing them to not open as far as usual (blepharophimosis). Deafness, severe intellectual disability, and behavioural problems have also been seen.

OFDS XII (Moran-Barroso syndrome)

Has been described in only one person who had several malformations of the brain and shortening of the long bone of the leg (tibia). They were also noted to have extra teeth, tongue with a groove, or split (bifid tongue) and a large head (macrocephaly). Along with club feet and extra toes and fingers (polydactyly).

OFDS XIII (Degner syndrome)

Has also been reported in one person. Features include psychiatric issues and epilepsy. Abnormal MRI results showing changes in the appearance of the white matter of the brain (leukokaraiosis) have been seen. The affected person also had tumors of the tongue, cleft lip, and short, bent, and fused fingers (syndactyly).


Includes small size of the head (microcephaly) and intellectual disability. Affected people have abnormal brain MRI results showing a molar tooth sign. Small size of the penis (micropenis) and other common oral features of OFDS have also been seen.

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Chromosomes, which are present in the nucleus of human cells, carry the genetic information (DNA) for each individual. The genetic information is carried in genes. Harmful gene changes (mutations) can cause the gene to not properly. This can lead to genetic conditions.

Specific gene changes have been found for type I, II, III, IV, V, VI, IX and XIV. Genetic causes of the other types of OFDS have not been identified, and some of the genes have only been identified recently. Type X, XI, XII, XIII have been reported in very few people/families and do not have an identified genetic cause. Hence, are thought to occur by chance and are not known to follow a mode of inheritance.

Mode of inheritance of OFDS types:

X-Linked Dominant:


X-Linked Recessive:


Autosomal Recessive:

OFDS type II, III, IV, V, VI, IX, IV

X-linked Recessive and Dominant Inheritance

X-linked genetic disorders are conditions caused by a non-working gene on the X chromosome and manifest mostly in males. Females that have a non-working gene present on one of their X chromosomes are carriers for that disorder. Carrier females usually do not display symptoms because females have two X chromosomes and only one carries the non-working gene. Males have only one X chromosome that is inherited from their mother as well as a Y from the father. If a male inherits an X chromosome that contains a non-working gene, he will develop the disease.

Female carriers of an X-linked disorder have a 25% chance with each pregnancy to have a carrier daughter like themselves, a 25% chance to have a non-carrier daughter, a 25% chance to have a son affected with the disease and a 25% chance to have an unaffected son.

If a male with an X-linked disorder is able to reproduce, he will pass the non-working gene to all of his daughters who will be carriers. A male cannot pass an X-linked gene to his sons because males always pass their Y chromosome (not the X) to male children.

X-linked dominant disorders are caused by a non-working gene on the X chromosome and occur mostly in females. Females with these rare conditions are affected when they have just one X chromosome with the non-working gene for a particular disease. Males with a non-working gene for an X-linked dominant disorder are more severely affected than females and often do not survive.

The following types of OFSD have shown to follow an X-linked inheritance pattern:

OFDS type I is associated with changes (mutations) in the OFD1 gene (previously called CXORF5). The gene is located on the X chromosome and follows an X-linked dominant pattern of inheritance. Approximately 75% of females with OFDS type 1 have no family history of OFDS.

OFDS Type VIII is inherited in an X-linked recessive form, but a gene has not been associated with this type.

Autosomal Recessive Inheritance

Recessive genetic conditions occur when an individual inherits a non-working gene from each parent. If an individual receives one working gene and one non-working gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the non-working gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier, like the parents, is 50% with each pregnancy. The chance for a child to receive working genes from both parents is 25%. The risk is the same for males and females. Parents who are close relatives (consanguineous) have a high chance to carry the same change (mutation). Hence, increasing the risk to have children with recessive genetic conditions, compared to unrelated parents.

The following types are known to follow autosomal recessive inheritance:

OFDS Type II has been linked with mutations in the NEK1 gene.

OFDS type III has been linked with mutations in the TMEM231 gene.

OFDS type IV has been linked with mutations in the TCTN3 and WDPCP genes.

OFDS type V has been linked with mutations in the DDX59 gene.

OFDS type VI has been linked with mutations in the OFD1, TMEM216, C4orf42, TMEME138, TMEM107 and KIAAO753 genes. Different changes (mutations) in these genes are also known to cause other conditions like Joubert Syndrome and Meckel-gruber Syndrome.

OFDS type IX has been linked with mutations in the SCLT1 and TBC1D32/C6orf170 genes.

OFDS type XIV has been linked with mutations in the C2CD3 gene.

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Affected populations

All types of oral-facial-digital syndrome are rare, with type I being the least rare. The incidence of OFDS type I is thought to be between 1 per 50,000 births and 1 per 250,000 births, and type II is thought to occur 1 in 300,000 births. Some types of OFDS have only been reported in a few people/families.

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Diagnosis of OFD syndromes with a known genetic cause (OFDS type I, III, IV, V, VI, IX, XIV) can be confirmed by genetic testing. However, diagnosis is generally made based on the clinical symptoms presented. 

Clinical Testing and Work Up 

The initial workup for people with OFDS includes:  

  • Exam of the face, especially the mouth, and the hands for typical signs and symptoms.  
  • Formal, age-appropriate testing of development and behavior. 
  • Imaging of the brain. 
  • Checking the blood pressure and serum creatinine concentration (especially for people with OFDS type I).  
  • Analysis of the urine, other blood tests (serum chemistries), and ultrasound examination of the kidneys, liver, ovary, and pancreas for cysts if the person is age ten years or older (especially for people with OFDS type I).  
  • Formal hearing examination if cleft palate is present.  
  • Consultation with a clinical geneticist and/or genetic counselor.  

Surveillance for people with OFDS type I includes the following: 

  • Annual audiology (ear) evaluation and testing of speech development and frequency of ear infections in children if cleft lip and/or cleft palate is present. 
  • Annual blood pressure examination and serum creatinine concentration to monitor kidney function in those ten years or older.  
  • Annual ultrasound examination for renal, hepatic, pancreatic, and ovarian cystic disease in people ten years or older.  

Surveillance for OFDS types having brain malformations features can include receiving regular brain MRIs.  

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Standard Therapies


Treatment of oral-facial-digital syndrome may involve reconstructive surgery for facial clefts, removal of extra teeth, surgery to repair fused fingers or digit anomalies. It can also include management of renal disease including hemodialysis/peritoneal dialysis or a kidney transplant. Management of seizures if present and evaluations for learning disabilities may be required based on the type. Speech therapy and special education may be recommended as well. Other treatment is supportive and based on symptoms. Genetic counseling is recommended for patients and their families

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Clinical Trials and Studies

Information on current clinical trials is posted on the Internet at https://clinicaltrials.gov/ All studies receiving U.S. Government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov

Some current clinical trials also are posted on the following page on the NORD website:


For information about clinical trials sponsored by private sources, contact:


For information about clinical trials conducted in Europe, contact:


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OFDS type I

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OFDS type II

Mohr Syndrome. OMIM Entry Number; 252100: Last Edit Date; 6/16/2017. https://omim.org/entry/252100?search=252100&highlight=252100

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Orofaciodigital syndrome III; OFD3. OMIM Entry Number; 258850: Last Edit Date; 7/9/2016. https://omim.org/entry/258850

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OFDS type IV

Orofaciodigital syndrome IV; OFD4. OMIM Entry Number; 258860: Last Edit Date;9/11/2012. https://omim.org/entry/258860

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OFDS type V

Dead-Box Helicase-59; DDX59 OMIM Entry Number; 615464; Last edit date; 7/14/2020 https://omim.org/entry/615464

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Orofaciodigital syndrome V. OFD5. OMIM Entry Number; 174300: Last Edit Date; 10/14/2016 https://omim.org/entry/174300

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OFDS type VI

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Varadi-Papp Syndrome. OMIM Entry Number; 277170: Last Edit Date; 4/19/2018. https://omim.org/entry/277170

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Chevrier V, Bruel A-L, van Dam TJP, Franco B, Scalzo ML, Lembo F, Audebert S, Baudelet E, Isnardon D, Bole A, et al. OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome. Hum Mol Genel 2016;25:497-513.

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Orofaciodigital syndrome VII; OFD7. OMIM Entry Number; 608518: Last Edit Date; 07/16/2009. https://omim.org/entry/608518

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Orofaciodigital syndrome IX; OFD9. OMIM Entry Number; 258865: Last Edit Date;02/04/2020. https://omim.org/entry/258865

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Orofaciodigital syndrome X; OFD10. OMIM Entry Number; 165590: Last Edit Date; 07/14/2017. https://omim.org/entry/165590

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OFDS type XI

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Gabrielli O, Ficcadenti A, Fabrizzi G, Perri P, Mercuri A, Coppa GV, Giorgi P. Child with oral, facial, digital, and skeletal anomalies and psychomotor delay: a new OFDS form? Am J Med Genet 1994:53:290-3.


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RareCare® Assistance Programs

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Additional Assistance Programs

MedicAlert Assistance Program

NORD and MedicAlert Foundation have teamed up on a new program to provide protection to rare disease patients in emergency situations.

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Rare Disease Educational Support Program

Ensuring that patients and caregivers are armed with the tools they need to live their best lives while managing their rare condition is a vital part of NORD’s mission.

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Rare Caregiver Respite Program

This first-of-its-kind assistance program is designed for caregivers of a child or adult diagnosed with a rare disorder.

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Patient Organizations

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