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Oral-facial-digital syndrome(OFD1)

MedGen UID:
307142
Concept ID:
C1510460
Congenital Abnormality; Disease or Syndrome
Synonyms: OFD syndrome 1; OFD1; OFDS 1; OFDS I; Oral-facial-digital syndrome type 1; Oral-Facial-Digital Syndrome Type I; Orofaciodigital syndrome 1; Orofaciodigital syndrome I; Papillon-Leage and Psaume Syndrome; Papillon-League-Psaume syndrome (formerly)
Modes of inheritance:
X-linked dominant inheritance
MedGen UID:
376232
Concept ID:
C1847879
Finding
Source: HPO
A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.
SNOMED CT: Gorlin-Psaume syndrome (403773005); Orofacial-digital syndrome (52868006); Orofacial-digital syndrome I (52868006); Papillon-Leage-Psaume syndrome (52868006); OFD I - Orofacial-digital syndrome I (52868006); Oral-facial-digital syndrome (52868006); OFD syndrome type I (52868006); Orodigitofacial dysostosis (52868006); Papillon-Léage and Psaume syndrome (52868006)
 
Gene (location): OFD1 (Xp22.2)
OMIM®: 311200
Orphanet: ORPHA2750

Disease characteristics

Excerpted from the GeneReview: Oral-Facial-Digital Syndrome Type I
Oral-facial-digital syndrome type I (OFD1) is associated with dysfunction of primary cilia and is characterized by the following abnormalities: Oral (lobed tongue, hamartomas or lipomas of the tongue, cleft of the hard or soft palate, accessory gingival frenulae, hypodontia, and other dental abnormalities). Facial (widely spaced eyes or telecanthus, hypoplasia of the alae nasi, median cleft or pseudocleft upper lip, micrognathia) . Digital (brachydactyly, syndactyly of varying degrees, and clinodactyly of the fifth finger; duplicated hallux [great toe]; preaxial or postaxial polydactyly of the hands). Brain (intracerebral cysts, corpus callosum agenesis, cerebellar agenesis with or without Dandy-Walker malformation) . Kidney (polycystic kidney disease). As many as 50% of individuals with OFD1 have some degree of intellectual disability, which is usually mild. Almost all affected individuals are female. However, males with OFD1 have been described, mostly as malformed fetuses delivered by women with OFD1.  [from GeneReviews]
Authors:
Helga V Toriello  |  Brunella Franco   view full author information

Additional descriptions

From OMIM
Orofaciodigital syndrome type I (OFD1) is characterized by malformations of the face, oral cavity, and digits and is transmitted as an X-linked dominant condition with lethality in males (Ferrante et al., 2001). Thickened alveolar ridges and abnormal dentition, including absent lateral incisors, are additional characteristics of OFD1. The central nervous system may also be involved in as many as 40% of cases. Although these clinical features overlap those reported in other forms of orofaciodigital syndrome, OFD1 can be easily distinguished from among these by its X-linked dominant inheritance pattern and by polycystic kidney disease, which seems to be specific to type I. Since the CXORF5 gene localizes to the centrosome and basal body of primary cilia, OFD1 is considered to be a ciliopathy (Chetty-John et al., 2010).  http://www.omim.org/entry/311200
From GHR
Oral-facial-digital syndrome is actually a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes).Researchers have identified at least 13 potential forms of oral-facial-digital syndrome. The different types are classified by their patterns of signs and symptoms. However, the features of the various types overlap significantly, and some types are not well defined. The classification system for oral-facial-digital syndrome continues to evolve as researchers find more affected individuals and learn more about this disorder.The signs and symptoms of oral-facial-digital syndrome vary widely. However, most forms of this disorder involve problems with development of the oral cavity, facial features, and digits. Most forms are also associated with brain abnormalities and some degree of intellectual disability.Abnormalities of the oral cavity that occur in many types of oral-facial-digital syndrome include a split (cleft) in the tongue, a tongue with an unusual lobed shape, and the growth of noncancerous tumors or nodules on the tongue. Affected individuals may also have extra, missing, or defective teeth. Another common feature is an opening in the roof of the mouth (a cleft palate). Some people with oral-facial-digital syndrome have bands of extra tissue (called hyperplastic frenula) that abnormally attach the lip to the gums.Distinctive facial features often associated with oral-facial-digital syndrome include a split in the lip (a cleft lip); a wide nose with a broad, flat nasal bridge; and widely spaced eyes (hypertelorism).Abnormalities of the digits can affect both the fingers and the toes in people with oral-facial-digital syndrome. These abnormalities include fusion of certain fingers or toes (syndactyly), digits that are shorter than usual (brachydactyly), or digits that are unusually curved (clinodactyly). The presence of extra digits (polydactyly) is also seen in most forms of oral-facial-digital syndrome.Other features occur in only one or a few types of oral-facial digital syndrome. These features help distinguish the different forms of the disorder. For example, the most common form of oral-facial-digital syndrome, type I, is associated with polycystic kidney disease. This kidney disease is characterized by the growth of fluid-filled sacs (cysts) that interfere with the kidneys' ability to filter waste products from the blood. Other forms of oral-facial-digital syndrome are characterized by neurological problems, particular changes in the structure of the brain, bone abnormalities, vision loss, and heart defects.  http://ghr.nlm.nih.gov/condition/oral-facial-digital-syndrome

Clinical features

Odontogenic Neoplasm
MedGen UID:
10426
Concept ID:
C0028880
Neoplastic Process
Neoplasms produced from tooth-forming tissues.
Hamartoma of hypothalamus
MedGen UID:
137970
Concept ID:
C0342418
Finding
The presence of a hamartoma of the hypothalamus.
Aneurysm
MedGen UID:
8076
Concept ID:
C0002940
Disease or Syndrome
An aneurysm is a bulge or ballooning in the wall of an artery. Arteries are blood vessels that carry oxygen-rich blood from the heart to other parts of the body. If an aneurysm grows large, it can burst and cause dangerous bleeding or even death. . Most aneurysms occur in the aorta, the main artery that runs from the heart through the chest and abdomen. Aneurysms also can happen in arteries in the brain, heart and other parts of the body. If an aneurysm in the brain bursts, it causes a stroke. Aneurysms can develop and become large before causing any symptoms. Often doctors can stop aneurysms from bursting if they find and treat them early. They use imaging tests to find aneurysms. Often aneurysms are found by chance during tests done for other reasons. Medicines and surgery are the two main treatments for aneurysms. . NIH: National Heart, Lung, and Blood Institute.
Malformation of the heart
MedGen UID:
6748
Concept ID:
C0018798
Congenital Abnormality
A congenital heart defect is a problem with the structure of the heart. It is present at birth. Congenital heart defects are the most common type of birth defect. The defects can involve the walls of the heart, the valves of the heart, and the arteries and veins near the heart. They can disrupt the normal flow of blood through the heart. The blood flow can slow down, go in the wrong direction or to the wrong place, or be blocked completely. Doctors use a physical exam and special heart tests to diagnose congenital heart defects. They often find severe defects during pregnancy or soon after birth. Signs and symptoms of severe defects in newborns include. -Rapid breathing. -Cyanosis - a bluish tint to the skin, lips, and fingernails. -Fatigue. -Poor blood circulation. Many congenital heart defects cause few or no signs and symptoms. They are often not diagnosed until children are older. Many children with congenital heart defects don't need treatment, but others do. Treatment can include medicines, catheter procedures, surgery, and heart transplants. The treatment depends on the type of the defect, how severe it is, and a child's age, size, and general health. NIH: National Heart, Lung, and Blood Institute.
Hypertension
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
Blood pressure is the force of your blood pushing against the walls of your arteries. Each time your heart beats, it pumps blood into the arteries. Your blood pressure is highest when your heart beats, pumping the blood. This is called systolic pressure. When your heart is at rest, between beats, your blood pressure falls. This is called diastolic pressure. . Your blood pressure reading uses these two numbers. Usually the systolic number comes before or above the diastolic number. A reading of. -119/79 or lower is normal blood pressure. -140/90 or higher is high blood pressure. -Between 120 and 139 for the top number, or between 80 and 89 for the bottom number is called prehypertension. Prehypertension means you may end up with high blood pressure, unless you take steps to prevent it. High blood pressure usually has no symptoms, but it can cause serious problems such as stroke, heart failure, heart attack and kidney failure. You can control high blood pressure through healthy lifestyle habits such as exercise and the DASH diet and taking medicines, if needed. . NIH: National Heart, Lung, and Blood Institute.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Congenital Abnormality
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (145410), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Polycystic kidney dysplasia
MedGen UID:
9639
Concept ID:
C0022680
Disease or Syndrome
The presence of multiple cysts in both kidneys.
Cyst of ovary
MedGen UID:
14540
Concept ID:
C0029927
Disease or Syndrome
A cyst is a fluid-filled sac. In most cases a cyst on the ovary does no harm and goes away by itself. Most women have them sometime during their lives. Cysts are rarely cancerous in women under 50. Cysts sometimes hurt - but not always. Often, a woman finds out about a cyst when she has a pelvic exam. . If you're in your childbearing years or past menopause, have no symptoms, and have a fluid-filled cyst, you may choose to monitor the cyst. You may need surgery if you have pain, are past menopause or if the cyst does not go away. Birth control pills can help prevent new cysts. A health problem that may involve ovarian cysts is polycystic ovary syndrome (PCOS). Women with PCOS can have high levels of male hormones, irregular or no periods and small ovarian cysts. Dept. of Health and Human Services Office on Women's Health.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
Increased levels of protein in the urine.
Renal failure syndrome
MedGen UID:
11177
Concept ID:
C0035078
Disease or Syndrome
Healthy kidneys clean your blood by removing excess fluid, minerals, and wastes. They also make hormones that keep your bones strong and your blood healthy. But if the kidneys are damaged, they don't work properly. Harmful wastes can build up in your body. Your blood pressure may rise. Your body may retain excess fluid and not make enough red blood cells. This is called kidney failure. If your kidneys fail, you need treatment to replace the work they normally do. The treatment options are dialysis or a kidney transplant. Each treatment has benefits and drawbacks. No matter which treatment you choose, you'll need to make some changes in your life, including how you eat and plan your activities. But with the help of healthcare providers, family, and friends, most people with kidney failure can lead full and active lives. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Multicystic kidney
MedGen UID:
811388
Concept ID:
C3714581
Disease or Syndrome
A nongenetic defect due to malformation of the KIDNEY which appears as a bunch of grapes with multiple renal cysts but lacking the normal renal bean shape, and the collection drainage system. This condition can be detected in-utero with ULTRASONOGRAPHY.
Syndactyly
MedGen UID:
52619
Concept ID:
C0039075
Congenital Abnormality
Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are revered to as \
Polydactyly
MedGen UID:
57774
Concept ID:
C0152427
Congenital Abnormality
A congenital anomaly characterized by the presence of supernumerary fingers or toes.
Polydactyly of toes
MedGen UID:
510637
Concept ID:
C0158734
Congenital Abnormality
A kind of polydactyly characterized by the presence of a supernumerary toe or toes.
Finger syndactyly
MedGen UID:
65139
Concept ID:
C0221352
Congenital Abnormality
Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are revered to as \
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here, however, it is preferable to described the observed phenotypic abnormalities precisely.
Clinodactyly
MedGen UID:
120550
Concept ID:
C0265610
Congenital Abnormality
An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
Tarsal synostosis
MedGen UID:
539393
Concept ID:
C0265654
Congenital Abnormality
Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones).
Ulnar polydactyly of fingers
MedGen UID:
609221
Concept ID:
C0431904
Congenital Abnormality
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
Preaxial hand polydactyly
MedGen UID:
237235
Concept ID:
C1395852
Congenital Abnormality
Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.
Radial deviation of finger
MedGen UID:
322852
Concept ID:
C1836189
Finding
Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.
Hypoplastic toes
MedGen UID:
322858
Concept ID:
C1836195
Finding
A toe that appears disproportionately short compared to the foot.
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Abnormality of toe
MedGen UID:
390611
Concept ID:
C2674738
Finding
An anomaly of a toe.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Height greater than two standard deviations below the mean of the appropriate reference population for the age and sex of the individual.
Deafness
MedGen UID:
4155
Concept ID:
C0011053
Finding
A decreased magnitude of the sensory perception of sound.
Otitis media
MedGen UID:
45253
Concept ID:
C0029882
Disease or Syndrome
Inflammation or infection of the middle ear.
Low set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Dandy-Walker syndrome
MedGen UID:
4150
Concept ID:
C0010964
Disease or Syndrome
Dandy-Walker malformation is defined by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. Affected individuals often have motor deficits such as delayed motor development, hypotonia, and ataxia; about half have mental retardation and some have hydrocephalus. DWM is a heterogeneous disorder. The low empiric recurrence risk of approximately 1 to 2% for nonsyndromic DWM suggests that mendelian inheritance is unlikely (summary by Murray et al., 1985).
Seizure Disorders
MedGen UID:
4506
Concept ID:
C0014544
Disease or Syndrome
Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters of nerve cells, or neurons, in the brain send out the wrong signals. People may have strange sensations and emotions or behave strangely. They may have violent muscle spasms or lose consciousness. Epilepsy has many possible causes, including illness, brain injury, and abnormal brain development. In many cases, the cause is unknown. Doctors use brain scans and other tests to diagnose epilepsy. It is important to start treatment right away. There is no cure for epilepsy, but medicines can control seizures for most people. When medicines are not working well, surgery or implanted devices such as vagus nerve stimulators may help. Special diets can help some children with epilepsy. NIH: National Institute of Neurological Disorders and Stroke.
Hydrocephalus
MedGen UID:
9335
Concept ID:
C0020255
Disease or Syndrome
Autosomal recessive nonsyndromic hydrocephalus is characterized by onset in utero of enlarged ventricles due to a disturbance of cerebrospinal fluid accumulation. Affected individuals may have neurologic impairment (summary by Drielsma et al., 2012). Hydrocephalus can also be caused by Arnold-Chiari malformation, atresia of foramen of Magendie, stenosis of aqueduct of Sylvius (307000), toxoplasmosis, hydranencephaly, etc. Furthermore, it develops in infancy or childhood in achondroplasia (100800) and in Hurler disease (607014). Genetic Heterogeneity of Congenital Hydrocephalus See also autosomal recessive HYC2 (615219), caused by mutation in the MPDZ gene (603785) on chromosome 9p. An X-linked form (307000) is caused by mutation in the L1CAM gene on (308840) on chromosome Xq28.
Myelocystocele
MedGen UID:
7538
Concept ID:
C0025312
Congenital Abnormality
Herniation of spinal cord tissue and meninges through a defect in a region of the vertebral column.
Intellectual functioning disability
MedGen UID:
7544
Concept ID:
C0025362
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Microcephalus
MedGen UID:
44422
Concept ID:
C0025958
Congenital Abnormality
Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
Tremor
MedGen UID:
21635
Concept ID:
C0040822
Sign or Symptom
Tremors are unintentional trembling or shaking movements in one or more parts of your body. Most tremors occur in the hands. You can also have arm, head, face, vocal cord, trunk, and leg tremors. Tremors are most common in middle-aged and older people, but anyone can have them. The cause of tremors is a problem in the parts of the brain that control muscles in the body or in specific parts of the body, such as the hands. They commonly occur in otherwise healthy people. They may also be caused by problems such as. -Parkinson's disease. -Dystonia. -Multiple sclerosis. -Stroke. -Traumatic brain injury. -Alcohol abuse and withdrawal. -Certain medicines. Some forms are inherited and run in families. Others have no known cause. . There is no cure for most tremors. Treatment to relieve them depends on their cause. In many cases, medicines and sometimes surgical procedures can reduce or stop tremors and improve muscle control. Tremors are not life threatening. However, they can be embarrassing and make it hard to perform daily tasks. NIH: National Institute of Neurological Disorders and Stroke.
Arachnoid cyst
MedGen UID:
86860
Concept ID:
C0078981
Disease or Syndrome
Intracranial or spinal cavities containing a cerebrospinal-like fluid, the wall of which is composed of arachnoidal cells. They are most often developmental or related to trauma. Intracranial arachnoid cysts usually occur adjacent to arachnoidal cistern and may present with HYDROCEPHALUS; HEADACHE; SEIZURES; and focal neurologic signs. (From Joynt, Clinical Neurology, 1994, Ch44, pp105-115)
Porencephaly
MedGen UID:
508833
Concept ID:
C0151860
Anatomical Abnormality
A disorder of the brain in which a cyst or cavity filled with cerebrospinal fluid develops in the cerebral hemisphere.
Corpus callosum agenesis
MedGen UID:
104498
Concept ID:
C0175754
Congenital Abnormality
The corpus callosum is the largest fiber tract in the central nervous system and the major interhemispheric fiber bundle in the brain. Formation of the corpus callosum begins as early as 6 weeks' gestation, with the first fibers crossing the midline at 11 to 12 weeks' gestation, and completion of the basic shape by age 18 to 20 weeks (Schell-Apacik et al., 2008). Agenesis of the corpus callosum (ACC) is one of the most frequent malformations in brain with a reported incidence ranging between 0.5 and 70 in 10,000 births. ACC is a clinically and genetically heterogeneous condition, which can be observed either as an isolated condition or as a manifestation in the context of a congenital syndrome (see MOLECULAR GENETICS and Dobyns, 1996). Schell-Apacik et al. (2008) noted that there is confusion in the literature regarding radiologic terminology concerning partial absence of the corpus callosum, where various designations have been used, including hypogenesis, hypoplasia, partial agenesis, or dysgenesis.
Gray matter heterotopias
MedGen UID:
452349
Concept ID:
C0266491
Finding
Gray matter heterotopia is a neurological disorder caused by clumps of grey matter being located in the wrong part of the brain. It is characterized as a type of cortical malformation. The neurons in heterotopia may appear to be normal, except for their mislocation; nuclear studies have shown glucose metabolism equal to that of normally positioned gray matter. The condition causes a variety of symptoms, but usually includes some degree of epilepsy or recurring seizures, and often affects the brain's ability to function on higher levels. Symptoms range from nonexistent to profound, in which case heterotopia can result in severe seizure disorder, loss of motor skills, and mental retardation.
Cognitive impairment
MedGen UID:
90932
Concept ID:
C0338656
Mental or Behavioral Dysfunction
a condition where a person has problems with the ability to think and learn
Hamartoma of hypothalamus
MedGen UID:
137970
Concept ID:
C0342418
Finding
The presence of a hamartoma of the hypothalamus.
Abnormal coordination
MedGen UID:
141714
Concept ID:
C0520966
Sign or Symptom
Cerebellar signs
MedGen UID:
149272
Concept ID:
C0742038
Finding
An abnormality of the cerebellum.
Abnormal cortical gyration
MedGen UID:
343457
Concept ID:
C1856019
Finding
An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain.
Hypoplasia or absence of the corpus callosum
MedGen UID:
354608
Concept ID:
C1861866
Finding
Absence or underdevelopment of the corpus callosum.
Pancreatic cysts
MedGen UID:
45293
Concept ID:
C0030283
Disease or Syndrome
A cyst of the pancreas that possess a lining of mucous epithelium.
Pancreatic insufficiency
MedGen UID:
45295
Concept ID:
C0030293
Disease or Syndrome
Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes.
Abnormal liver function
MedGen UID:
39248
Concept ID:
C0086565
Pathologic Function
Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.
Congenital cystic disease of liver
MedGen UID:
56388
Concept ID:
C0158683
Congenital Abnormality
A usually asymptomatic hereditary disorder which is often associated with polycystic kidney disease. It is characterized by the presence of fluid-filled biliary cysts throughout the liver.
Hepatic fibrosis
MedGen UID:
116093
Concept ID:
C0239946
Disease or Syndrome
The presence of fibrosis of the liver tissue.
Hepatic cysts
MedGen UID:
82761
Concept ID:
C0267834
Disease or Syndrome
Otitis media
MedGen UID:
45253
Concept ID:
C0029882
Disease or Syndrome
Inflammation or infection of the middle ear.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
Increased levels of protein in the urine.
Dandy-Walker syndrome
MedGen UID:
4150
Concept ID:
C0010964
Disease or Syndrome
Dandy-Walker malformation is defined by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. Affected individuals often have motor deficits such as delayed motor development, hypotonia, and ataxia; about half have mental retardation and some have hydrocephalus. DWM is a heterogeneous disorder. The low empiric recurrence risk of approximately 1 to 2% for nonsyndromic DWM suggests that mendelian inheritance is unlikely (summary by Murray et al., 1985).
Dental Enamel Hypoplasia
MedGen UID:
3730
Concept ID:
C0011351
Finding
A form of amelogenesis imperfecta characterized by incomplete formation of the dental enamel and transmitted as an X-linked or autosomal dominant trait.
Microcephalus
MedGen UID:
44422
Concept ID:
C0025958
Congenital Abnormality
Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
Congenital micrognathism
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Syndactyly
MedGen UID:
52619
Concept ID:
C0039075
Congenital Abnormality
Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are revered to as \
Polydactyly
MedGen UID:
57774
Concept ID:
C0152427
Congenital Abnormality
A congenital anomaly characterized by the presence of supernumerary fingers or toes.
Polydactyly of toes
MedGen UID:
510637
Concept ID:
C0158734
Congenital Abnormality
A kind of polydactyly characterized by the presence of a supernumerary toe or toes.
Finger syndactyly
MedGen UID:
65139
Concept ID:
C0221352
Congenital Abnormality
Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are revered to as \
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here, however, it is preferable to described the observed phenotypic abnormalities precisely.
Clinodactyly
MedGen UID:
120550
Concept ID:
C0265610
Congenital Abnormality
An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
Tarsal synostosis
MedGen UID:
539393
Concept ID:
C0265654
Congenital Abnormality
Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones).
Ulnar polydactyly of fingers
MedGen UID:
609221
Concept ID:
C0431904
Congenital Abnormality
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
Preaxial hand polydactyly
MedGen UID:
237235
Concept ID:
C1395852
Congenital Abnormality
Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.
Radial deviation of finger
MedGen UID:
322852
Concept ID:
C1836189
Finding
Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.
Hypoplastic toes
MedGen UID:
322858
Concept ID:
C1836195
Finding
A toe that appears disproportionately short compared to the foot.
Microretrognathia
MedGen UID:
326907
Concept ID:
C1839546
Finding
A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Cone-shaped epiphysis
MedGen UID:
351282
Concept ID:
C1865037
Finding
Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery.
Reduced bone mineral density
MedGen UID:
393152
Concept ID:
C2674432
Finding
A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.
Abnormality of toe
MedGen UID:
390611
Concept ID:
C2674738
Finding
An anomaly of a toe.
Cheekbone underdevelopment
MedGen UID:
866886
Concept ID:
C4021242
Anatomical Abnormality
Underdevelopment of the zygomatic bone [UBERON_0001683]. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch.
Abnormality of dental enamel
MedGen UID:
867426
Concept ID:
C4021800
Anatomical Abnormality
An abnormality of the dental enamel.
Choanal atresia
MedGen UID:
3395
Concept ID:
C0008297
Congenital Abnormality
Absence or abnormal closure of the choana (the posterior nasal aperture).
Cleft lip
MedGen UID:
40327
Concept ID:
C0008924
Congenital Abnormality
Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region.
Cleft palate
MedGen UID:
3107
Concept ID:
C0008925
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Dandy-Walker syndrome
MedGen UID:
4150
Concept ID:
C0010964
Disease or Syndrome
Dandy-Walker malformation is defined by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. Affected individuals often have motor deficits such as delayed motor development, hypotonia, and ataxia; about half have mental retardation and some have hydrocephalus. DWM is a heterogeneous disorder. The low empiric recurrence risk of approximately 1 to 2% for nonsyndromic DWM suggests that mendelian inheritance is unlikely (summary by Murray et al., 1985).
Carious teeth
MedGen UID:
8288
Concept ID:
C0011334
Disease or Syndrome
You call it a cavity. Your dentist calls it tooth decay or dental caries. They're all names for a hole in your tooth. The cause of tooth decay is plaque, a sticky substance in your mouth made up mostly of germs. Tooth decay starts in the outer layer, called the enamel. Without a filling, the decay can get deep into the tooth and its nerves and cause a toothache or abscess. To help prevent cavities. -Brush your teeth every day with a fluoride toothpaste. -Clean between your teeth every day with floss or another type of between-the-teeth cleaner. -Snack smart - limit sugary snacks. -See your dentist or oral health professional regularly.
Dental Enamel Hypoplasia
MedGen UID:
3730
Concept ID:
C0011351
Finding
A form of amelogenesis imperfecta characterized by incomplete formation of the dental enamel and transmitted as an X-linked or autosomal dominant trait.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Congenital Abnormality
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (145410), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Dental malocclusion
MedGen UID:
9869
Concept ID:
C0024636
Anatomical Abnormality
Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.
Microcephalus
MedGen UID:
44422
Concept ID:
C0025958
Congenital Abnormality
Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
Congenital micrognathism
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Odontogenic Neoplasm
MedGen UID:
10426
Concept ID:
C0028880
Neoplastic Process
Neoplasms produced from tooth-forming tissues.
Teeth, supernumerary
MedGen UID:
21210
Concept ID:
C0040457
Congenital Abnormality
An extra tooth, erupted or unerupted, resembling or unlike the other teeth in the group to which it belongs. Its presence may cause malposition of adjacent teeth or prevent their eruption.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Byzanthine arch palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Tongue nodules
MedGen UID:
116122
Concept ID:
C0241438
Finding
Bifid tongue
MedGen UID:
82731
Concept ID:
C0266111
Congenital Abnormality
Tongue with a median apical indentation or fork.
Lip pit
MedGen UID:
87412
Concept ID:
C0341059
Anatomical Abnormality
A depression located on a lip.
Downward slant of palpebral fissure
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Telecanthus
MedGen UID:
140836
Concept ID:
C0423113
Congenital Abnormality
Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.
Lobulated tongue
MedGen UID:
140914
Concept ID:
C0431564
Congenital Abnormality
Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour.
Tooth absent
MedGen UID:
96841
Concept ID:
C0457756
Finding
A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth.
Epicanthus
MedGen UID:
151862
Concept ID:
C0678230
Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).
Facial asymmetry
MedGen UID:
266298
Concept ID:
C1306710
Anatomical Abnormality
Congenital or acquired asymmetry of the face.
Thin hypoplastic alae nasi
MedGen UID:
322332
Concept ID:
C1834055
Finding
Thinned, deficient, or excessively arched ala nasi.
Microretrognathia
MedGen UID:
326907
Concept ID:
C1839546
Finding
A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.
Broad flat nasal bridge
MedGen UID:
326959
Concept ID:
C1839764
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Median cleft lip
MedGen UID:
342454
Concept ID:
C1850256
Congenital Abnormality
A type of cleft lip presenting as a midline (median) gap in the upper lip.
Hypertrophied alveolar ridge
MedGen UID:
383849
Concept ID:
C1856164
Finding
Increased width of the alveolar ridges.
Broad alveolar ridges
MedGen UID:
347470
Concept ID:
C1857500
Finding
Cheekbone underdevelopment
MedGen UID:
866886
Concept ID:
C4021242
Anatomical Abnormality
Underdevelopment of the zygomatic bone [UBERON_0001683]. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch.
Abnormality of the nares
MedGen UID:
867276
Concept ID:
C4021637
Anatomical Abnormality
Abnormality of the nostril.
Abnormality of dental enamel
MedGen UID:
867426
Concept ID:
C4021800
Anatomical Abnormality
An abnormality of the dental enamel.
Reduced number of teeth
MedGen UID:
869773
Concept ID:
C4024202
Finding
The presence of a reduced number of teeth as in Hypodontia or as in Anodontia.
Dental Enamel Hypoplasia
MedGen UID:
3730
Concept ID:
C0011351
Finding
A form of amelogenesis imperfecta characterized by incomplete formation of the dental enamel and transmitted as an X-linked or autosomal dominant trait.
Abnormality of dental enamel
MedGen UID:
867426
Concept ID:
C4021800
Anatomical Abnormality
An abnormality of the dental enamel.
Alopecia
MedGen UID:
7982
Concept ID:
C0002170
Finding
You lose up to 100 hairs from your scalp every day. That's normal, and in most people, those hairs grow back. But many men -- and some women -- lose hair as they grow older. You can also lose your hair if you have certain diseases, such as thyroid problems, diabetes, or lupus. If you take certain medicines or have chemotherapy for cancer, you may also lose your hair. Other causes are stress, a low protein diet, a family history, or poor nutrition. . Treatment for hair loss depends on the cause. In some cases, treating the underlying cause will correct the problem. Other treatments include medicines and hair restoration. .
Dry skin
MedGen UID:
56250
Concept ID:
C0151908
Sign or Symptom
Skin characterized by the lack of natural or normal moisture.
Thick hair
MedGen UID:
124454
Concept ID:
C0277959
Finding
Hair shafts are rough in texture.
Lip pit
MedGen UID:
87412
Concept ID:
C0341059
Anatomical Abnormality
A depression located on a lip.
Milia
MedGen UID:
87528
Concept ID:
C0345996
Anatomical Abnormality
Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.
Sparse hair
MedGen UID:
332942
Concept ID:
C1837770
Finding
Reduced density of hairs.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOral-facial-digital syndrome
Follow this link to review classifications for Oral-facial-digital syndrome in Orphanet.

Recent clinical studies

Etiology

Romani M, Mancini F, Micalizzi A, Poretti A, Miccinilli E, Accorsi P, Avola E, Bertini E, Borgatti R, Romaniello R, Ceylaner S, Coppola G, D'Arrigo S, Giordano L, Janecke AR, Lituania M, Ludwig K, Martorell L, Mazza T, Odent S, Pinelli L, Poo P, Santucci M, Signorini S, Simonati A, Spiegel R, Stanzial F, Steinlin M, Tabarki B, Wolf NI, Zibordi F, Boltshauser E, Valente EM
Hum Genet 2015 Jan;134(1):123-6. Epub 2014 Nov 19 doi: 10.1007/s00439-014-1508-3. [Epub ahead of print] PMID: 25407461Free PMC Article
González MG, Castro MP, Nieto DV, Bouzán JC
J Plast Reconstr Aesthet Surg 2014 Mar;67(3):396-8. Epub 2013 Jul 22 doi: 10.1016/j.bjps.2013.06.044. [Epub ahead of print] PMID: 23886557
Tuli A, Sachdev V, Singh A, Kumar A
J Indian Soc Pedod Prev Dent 2011 Dec;29(6 Suppl 2):S83-6. doi: 10.4103/0970-4388.90750. PMID: 22169845
Saal S, Faivre L, Aral B, Gigot N, Toutain A, Van Maldergem L, Destree A, Maystadt I, Cosyns JP, Jouk PS, Loeys B, Chauveau D, Bieth E, Layet V, Mathieu M, Lespinasse J, Teebi A, Franco B, Gautier E, Binquet C, Masurel-Paulet A, Mousson C, Gouyon JB, Huet F, Thauvin-Robinet C
Clin Genet 2010 Mar;77(3):258-65. Epub 2009 Oct 8 doi: 10.1111/j.1399-0004.2009.01290.x. [Epub ahead of print] PMID: 19817772
Macca M, Franco B
Am J Med Genet C Semin Med Genet 2009 Nov 15;151C(4):318-25. doi: 10.1002/ajmg.c.30224. PMID: 19876934

Diagnosis

Bayram Y, Aydin H, Gambin T, Akdemir ZC, Atik MM, Karaca E, Karaman A, Pehlivan D, Jhangiani SN, Gibbs RA, Lupski JR
Am J Med Genet A 2015 Sep;167A(9):2132-7. Epub 2015 Apr 6 doi: 10.1002/ajmg.a.37092. [Epub ahead of print] PMID: 25846457Free PMC Article
Baker LA, Agim NG
Pediatr Dermatol 2014 Mar-Apr;31(2):e48-51. Epub 2014 Feb 11 doi: 10.1111/pde.12278. [Epub ahead of print] PMID: 24517846
Shimojima K, Shimada S, Sugawara M, Yoshikawa N, Niijima S, Urao M, Yamamoto T
Congenit Anom (Kyoto) 2013 Dec;53(4):155-9. doi: 10.1111/j.1741-4520.2012.00384.x. PMID: 24712474
Al-Qattan MM, Al Balwi MA
Gene 2013 Sep 10;526(2):471-3. Epub 2013 Jun 1 doi: 10.1016/j.gene.2013.05.046. [Epub ahead of print] PMID: 23732295
Azukizawa T, Yamamoto M, Narumiya S, Takano T
Pediatr Neurol 2013 Apr;48(4):329-32. doi: 10.1016/j.pediatrneurol.2012.12.016. PMID: 23498571

Therapy

Shashi V, Clark P, Rogol AD, Wilson WG
Am J Med Genet 1995 May 22;57(1):22-6. doi: 10.1002/ajmg.1320570107. PMID: 7645593

Prognosis

Bayram Y, Aydin H, Gambin T, Akdemir ZC, Atik MM, Karaca E, Karaman A, Pehlivan D, Jhangiani SN, Gibbs RA, Lupski JR
Am J Med Genet A 2015 Sep;167A(9):2132-7. Epub 2015 Apr 6 doi: 10.1002/ajmg.a.37092. [Epub ahead of print] PMID: 25846457Free PMC Article
Romani M, Mancini F, Micalizzi A, Poretti A, Miccinilli E, Accorsi P, Avola E, Bertini E, Borgatti R, Romaniello R, Ceylaner S, Coppola G, D'Arrigo S, Giordano L, Janecke AR, Lituania M, Ludwig K, Martorell L, Mazza T, Odent S, Pinelli L, Poo P, Santucci M, Signorini S, Simonati A, Spiegel R, Stanzial F, Steinlin M, Tabarki B, Wolf NI, Zibordi F, Boltshauser E, Valente EM
Hum Genet 2015 Jan;134(1):123-6. Epub 2014 Nov 19 doi: 10.1007/s00439-014-1508-3. [Epub ahead of print] PMID: 25407461Free PMC Article
Wang HL, Chiang FY, Tai CF, Tsai KB, Wang LF
World J Surg Oncol 2013 Sep 16;11:230. doi: 10.1186/1477-7819-11-230. [Epub ahead of print] PMID: 24040829Free PMC Article
Saal S, Faivre L, Aral B, Gigot N, Toutain A, Van Maldergem L, Destree A, Maystadt I, Cosyns JP, Jouk PS, Loeys B, Chauveau D, Bieth E, Layet V, Mathieu M, Lespinasse J, Teebi A, Franco B, Gautier E, Binquet C, Masurel-Paulet A, Mousson C, Gouyon JB, Huet F, Thauvin-Robinet C
Clin Genet 2010 Mar;77(3):258-65. Epub 2009 Oct 8 doi: 10.1111/j.1399-0004.2009.01290.x. [Epub ahead of print] PMID: 19817772
Young LW, Wilhelm LL, Zuppan CW, Clark R
Pediatr Radiol 2001 Jan;31(1):31-5. doi: 10.1007/s002470000361. PMID: 11200995

Clinical prediction guides

Bayram Y, Aydin H, Gambin T, Akdemir ZC, Atik MM, Karaca E, Karaman A, Pehlivan D, Jhangiani SN, Gibbs RA, Lupski JR
Am J Med Genet A 2015 Sep;167A(9):2132-7. Epub 2015 Apr 6 doi: 10.1002/ajmg.a.37092. [Epub ahead of print] PMID: 25846457Free PMC Article
Romani M, Mancini F, Micalizzi A, Poretti A, Miccinilli E, Accorsi P, Avola E, Bertini E, Borgatti R, Romaniello R, Ceylaner S, Coppola G, D'Arrigo S, Giordano L, Janecke AR, Lituania M, Ludwig K, Martorell L, Mazza T, Odent S, Pinelli L, Poo P, Santucci M, Signorini S, Simonati A, Spiegel R, Stanzial F, Steinlin M, Tabarki B, Wolf NI, Zibordi F, Boltshauser E, Valente EM
Hum Genet 2015 Jan;134(1):123-6. Epub 2014 Nov 19 doi: 10.1007/s00439-014-1508-3. [Epub ahead of print] PMID: 25407461Free PMC Article
Shimojima K, Shimada S, Sugawara M, Yoshikawa N, Niijima S, Urao M, Yamamoto T
Congenit Anom (Kyoto) 2013 Dec;53(4):155-9. doi: 10.1111/j.1741-4520.2012.00384.x. PMID: 24712474
Lopes CA, Prosser SL, Romio L, Hirst RA, O'Callaghan C, Woolf AS, Fry AM
J Cell Sci 2011 Feb 15;124(Pt 4):600-12. Epub 2011 Jan 25 doi: 10.1242/jcs.077156. [Epub ahead of print] PMID: 21266464Free PMC Article
Tagliani MM, Gomide MR, Carrara CF
Cleft Palate Craniofac J 2010 Mar;47(2):162-6. doi: 10.1597/08-200.1. PMID: 20210637

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