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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
Sources: HPO, OMIM, Orphanet
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.
X-linked dominant inheritance (HPO, OMIM, Orphanet)
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

Disease characteristics

Excerpted from the GeneReview: Oral-Facial-Digital Syndrome Type I
Oral-facial-digital syndrome type I (OFD1) is usually male lethal during gestation and predominantly affects females. OFD1 is characterized by the following features: Oral (lobulated tongue, tongue nodules, 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, clinodactyly of the fifth finger; duplicated hallux [great toe]). Kidney (polycystic kidney disease). Brain (e.g., intracerebral cysts, agenesis of the corpus callosum, cerebellar agenesis with or without Dandy-Walker malformation). Intellectual disability (in ~50% of individuals). [from GeneReviews]
Authors:
Helga V Toriello  |  Brunella Franco  |  Ange-Line Bruel, et. al.   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.  https://ghr.nlm.nih.gov/condition/oral-facial-digital-syndrome

Clinical features

Hypertension
MedGen UID:
635666
Concept ID:
C0497247
Finding
A finding of increased blood pressure; not necessarily hypertensive disorder
Abnormality of cardiac morphology
MedGen UID:
504877
Concept ID:
CN001482
Finding
Any structural anomaly of the heart.
Hypertelorism
MedGen UID:
504419
Concept ID:
CN000296
Finding
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
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.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
Increased levels of protein in the urine.
Polydactyly
MedGen UID:
57774
Concept ID:
C0152427
Congenital Abnormality
A congenital anomaly characterized by the presence of supernumerary fingers or toes.
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).
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.
Short toe
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).
Postaxial hand polydactyly
MedGen UID:
892379
Concept ID:
C2112130
Finding
Syndactyly
MedGen UID:
776571
Concept ID:
C2117411
Finding
Abnormality of toe
MedGen UID:
390611
Concept ID:
C2674738
Finding
An anomaly of a toe.
Foot polydactyly
MedGen UID:
427897
Concept ID:
CN001656
Finding
A kind of polydactyly characterized by the presence of a supernumerary toe or toes.
Finger syndactyly
MedGen UID:
505885
Concept ID:
CN005347
Finding
Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are revered to as \
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.
Hypertension
MedGen UID:
635666
Concept ID:
C0497247
Finding
A finding of increased blood pressure; not necessarily hypertensive disorder
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.
Pancreatic cysts
MedGen UID:
45293
Concept ID:
C0030283
Disease or Syndrome
A cyst of the pancreas that possess a lining of mucous epithelium.
Congenital cystic disease of liver
MedGen UID:
56388
Concept ID:
C0158683
Congenital Abnormality
Polycystic liver disease-1 is an autosomal dominant condition characterized by the presence of multiple liver cysts of biliary epithelial origin. Although the clinical presentation and histologic features of polycystic liver disease in the presence or absence of autosomal dominant polycystic kidney disease (see, e.g., PKD1, 173900) are indistinguishable, PCLD1 is a genetically distinct form of isolated polycystic liver disease (summary by Reynolds et al., 2000). Genetic Heterogeneity of Polycystic Liver Disease See also PCLD2 (617004), caused by mutation in the SEC63 gene (608648) on chromosome 6q21.
Hepatic cysts
MedGen UID:
82761
Concept ID:
C0267834
Disease or Syndrome
Subclinical abnormal liver function tests
MedGen UID:
333969
Concept ID:
C1842003
Finding
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.
Hepatic fibrosis
MedGen UID:
504827
Concept ID:
CN001276
Finding
The presence of fibrosis of the liver tissue.
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.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Finding
A general term for the complete or partial loss of the ability to hear from one or both ears.
Otitis media
MedGen UID:
504428
Concept ID:
CN000363
Finding
Inflammation or infection of the middle 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).
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.
Seizures
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
Seizures are symptoms of a brain problem. They happen because of sudden, abnormal electrical activity in the brain. When people think of seizures, they often think of convulsions in which a person's body shakes rapidly and uncontrollably. Not all seizures cause convulsions. There are many types of seizures and some have mild symptoms. Seizures fall into two main groups. Focal seizures, also called partial seizures, happen in just one part of the brain. Generalized seizures are a result of abnormal activity on both sides of the brain. . Most seizures last from 30 seconds to 2 minutes and do not cause lasting harm. However, it is a medical emergency if seizures last longer than 5 minutes or if a person has many seizures and does not wake up between them. Seizures can have many causes, including medicines, high fevers, head injuries and certain diseases. People who have recurring seizures due to a brain disorder have epilepsy. . NIH: National Institute of Neurological Disorders and Stroke.
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.
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.
Hamartoma of hypothalamus
MedGen UID:
137970
Concept ID:
C0342418
Finding
The presence of a hamartoma of the hypothalamus.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Incoordination
MedGen UID:
141714
Concept ID:
C0520966
Sign or Symptom
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
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.
Aplasia/Hypoplasia of the corpus callosum
MedGen UID:
354608
Concept ID:
C1861866
Finding
Absence or underdevelopment of the corpus callosum.
Abnormality of the cerebellum
MedGen UID:
400925
Concept ID:
C1866129
Finding
An abnormality of the cerebellum.
Myelomeningocele
MedGen UID:
505247
Concept ID:
CN002248
Finding
Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column.
Cognitive impairment
MedGen UID:
451875
Concept ID:
CN117436
Finding
Abnormality in the process of thought including the ability to process information.
Arachnoid cyst
MedGen UID:
506519
Concept ID:
CN117593
Finding
An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid.
Pancreatic cysts
MedGen UID:
45293
Concept ID:
C0030283
Disease or Syndrome
A cyst of the pancreas that possess a lining of mucous epithelium.
Congenital cystic disease of liver
MedGen UID:
56388
Concept ID:
C0158683
Congenital Abnormality
Polycystic liver disease-1 is an autosomal dominant condition characterized by the presence of multiple liver cysts of biliary epithelial origin. Although the clinical presentation and histologic features of polycystic liver disease in the presence or absence of autosomal dominant polycystic kidney disease (see, e.g., PKD1, 173900) are indistinguishable, PCLD1 is a genetically distinct form of isolated polycystic liver disease (summary by Reynolds et al., 2000). Genetic Heterogeneity of Polycystic Liver Disease See also PCLD2 (617004), caused by mutation in the SEC63 gene (608648) on chromosome 6q21.
Hepatic cysts
MedGen UID:
82761
Concept ID:
C0267834
Disease or Syndrome
Subclinical abnormal liver function tests
MedGen UID:
333969
Concept ID:
C1842003
Finding
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.
Hepatic fibrosis
MedGen UID:
504827
Concept ID:
CN001276
Finding
The presence of fibrosis of the liver tissue.
Otitis media
MedGen UID:
504428
Concept ID:
CN000363
Finding
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).
Polydactyly
MedGen UID:
57774
Concept ID:
C0152427
Congenital Abnormality
A congenital anomaly characterized by the presence of supernumerary fingers or toes.
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).
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
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.
Short toe
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).
Hypoplastic mandible condyle
MedGen UID:
347379
Concept ID:
C1857130
Anatomical Abnormality
Developmental hypoplasia of the mandible.
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.
Postaxial hand polydactyly
MedGen UID:
892379
Concept ID:
C2112130
Finding
Syndactyly
MedGen UID:
776571
Concept ID:
C2117411
Finding
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.
Hypoplasia of the zygomatic bone
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:
427814
Concept ID:
CN000641
Finding
An abnormality of the dental enamel.
Foot polydactyly
MedGen UID:
427897
Concept ID:
CN001656
Finding
A kind of polydactyly characterized by the presence of a supernumerary toe or toes.
Frontal bossing
MedGen UID:
505049
Concept ID:
CN001816
Finding
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Myelomeningocele
MedGen UID:
505247
Concept ID:
CN002248
Finding
Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column.
Finger syndactyly
MedGen UID:
505885
Concept ID:
CN005347
Finding
Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are revered to as \
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).
Hypoplasia of dental enamel
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.
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.
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.
Downslanted palpebral fissures
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.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
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.
Anodontia of permanent dentition
MedGen UID:
224851
Concept ID:
C1290511
Congenital Abnormality
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:
724513
Concept ID:
C1303004
Finding
Underdeveloped nasal alae
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.
Wide nasal bridge
MedGen UID:
341441
Concept ID:
C1849367
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Hypertrophied alveolar ridge
MedGen UID:
383849
Concept ID:
C1856164
Finding
Increased width of the alveolar ridges.
Hypoplastic mandible condyle
MedGen UID:
347379
Concept ID:
C1857130
Anatomical Abnormality
Developmental hypoplasia of the mandible.
Broad alveolar ridges
MedGen UID:
347470
Concept ID:
C1857500
Finding
Carious teeth
MedGen UID:
401327
Concept ID:
C1867882
Finding
Hypoplasia of the zygomatic bone
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.
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.
Cleft upper lip
MedGen UID:
504391
Concept ID:
CN000197
Finding
A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
High palate
MedGen UID:
504397
Concept ID:
CN000211
Finding
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).
Hypertelorism
MedGen UID:
504419
Concept ID:
CN000296
Finding
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Facial asymmetry
MedGen UID:
504421
Concept ID:
CN000304
Finding
An abnormal difference between the left and right sides of the face.
Choanal atresia
MedGen UID:
504447
Concept ID:
CN000423
Finding
Absence or abnormal closure of the choana (the posterior nasal aperture).
Abnormality of dental enamel
MedGen UID:
427814
Concept ID:
CN000641
Finding
An abnormality of the dental enamel.
Frontal bossing
MedGen UID:
505049
Concept ID:
CN001816
Finding
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Lip pit
MedGen UID:
506460
Concept ID:
CN117163
Finding
A depression located on a lip.
Abnormality of dental enamel
MedGen UID:
427814
Concept ID:
CN000641
Finding
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.
Thin, sparse hair
MedGen UID:
349904
Concept ID:
C1860844
Sign or Symptom
Reduced density of hairs.
Milia
MedGen UID:
504701
Concept ID:
CN000991
Finding
Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.
Lip pit
MedGen UID:
506460
Concept ID:
CN117163
Finding
A depression located on a lip.

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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