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Oral-facial-digital syndrome(OFD1)

MedGen UID:
307142
Concept ID:
C1510460
Congenital Abnormality
Synonyms: OFD syndrome 1; OFD1; OFDS 1; OFDS I; Oral-facial-digital syndrome 1; 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
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Describes a disorder that is not inherited.
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]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
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

Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Hypothalamic hamartoma
MedGen UID:
505237
Concept ID:
CN002219
Finding
The presence of a hamartoma of the hypothalamus.
Odontogenic neoplasm
MedGen UID:
506496
Concept ID:
CN117504
Finding
Neoplasm involving odontogenic cells, an odontogenic tumor.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
abnormal presence of protein in urine
Multicystic kidney dysplasia
MedGen UID:
504299
Concept ID:
CN000004
Finding
Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvocaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional.
Renal insufficiency
MedGen UID:
427392
Concept ID:
CN000083
Finding
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Polycystic kidney dysplasia
MedGen UID:
427793
Concept ID:
CN000111
Finding
The presence of multiple cysts in both kidneys.
Ovarian cyst
MedGen UID:
504360
Concept ID:
CN000134
Finding
The presence of one or more cysts of the ovary.
Tongue nodules
MedGen UID:
116122
Concept ID:
C0241438
Finding
Epicanthus
MedGen UID:
724513
Concept ID:
C1303004
Finding
Microretrognathia
MedGen UID:
326907
Concept ID:
C1839546
Finding
Microcephaly
MedGen UID:
337454
Concept ID:
C1845868
Finding
Median cleft lip
MedGen UID:
342454
Concept ID:
C1850256
Congenital Abnormality
Telecanthus
MedGen UID:
341785
Concept ID:
C1857498
Finding
Downslanted palpebral fissures
MedGen UID:
400661
Concept ID:
C1865016
Finding
Micrognathia
MedGen UID:
401012
Concept ID:
C1866485
Finding
Carious teeth
MedGen UID:
401327
Concept ID:
C1867882
Finding
Bifid tongue
MedGen UID:
776572
Concept ID:
C2144663
Finding
Cleft palate
MedGen UID:
504379
Concept ID:
CN000170
Finding
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).
Lobulated tongue
MedGen UID:
504382
Concept ID:
CN000175
Finding
Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour.
Broad alveolar ridges
MedGen UID:
500884
Concept ID:
CN000182
Finding
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.
Underdeveloped nasal alae
MedGen UID:
507330
Concept ID:
CN000403
Finding
Thinned, deficient, or excessively arched ala nasi.
Wide nasal bridge
MedGen UID:
504442
Concept ID:
CN000404
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
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.
Dental malocclusion
MedGen UID:
504556
Concept ID:
CN000647
Finding
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.
Dandy-Walker malformation
MedGen UID:
504796
Concept ID:
CN001196
Finding
A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.
Frontal bossing
MedGen UID:
505049
Concept ID:
CN001816
Finding
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Abnormality of the nares
MedGen UID:
425321
Concept ID:
CN004689
Finding
Abnormality of the nostril.
Hypoplasia of dental enamel
MedGen UID:
501010
Concept ID:
CN005491
Finding
Developmental hypoplasia of the dental enamel.
Agenesis of permanent teeth
MedGen UID:
428217
Concept ID:
CN005532
Finding
A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth.
Alveolar ridge overgrowth
MedGen UID:
428869
Concept ID:
CN007978
Finding
Increased width of the alveolar ridges.
Reduced number of teeth
MedGen UID:
429449
Concept ID:
CN008661
Finding
The presence of a reduced number of teeth as in Hypodontia or as in Anodontia.
Cheekbone underdevelopment
MedGen UID:
430039
Concept ID:
CN009495
Finding
Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic process of the temporal bone of the skull, which forms the middle and lateral inferior orbital margin.
Increased number of teeth
MedGen UID:
506432
Concept ID:
CN116800
Finding
The presence of a supernumerary, i.e., extra, tooth or teeth.
Lip pit
MedGen UID:
506460
Concept ID:
CN117163
Finding
A depression located on a lip.
Odontogenic neoplasm
MedGen UID:
506496
Concept ID:
CN117504
Finding
Neoplasm involving odontogenic cells, an odontogenic tumor.
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).
Hearing impairment
MedGen UID:
446352
Concept ID:
CN000341
Finding
A decreased magnitude of the sensory perception of sound.
Low-set ears
MedGen UID:
504425
Concept ID:
CN000345
Finding
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.
Otitis media
MedGen UID:
504428
Concept ID:
CN000363
Finding
Inflammation or infection of the middle ear.
Gray matter heterotopias
MedGen UID:
452349
Concept ID:
C0266491
Congenital Abnormality
Agenesis of corpus callosum
MedGen UID:
373288
Concept ID:
C1837248
Finding
Abnormal cortical gyration
MedGen UID:
334276
Concept ID:
C1842900
Finding
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
Microcephaly
MedGen UID:
337454
Concept ID:
C1845868
Finding
Cognitive impairment
MedGen UID:
383844
Concept ID:
C1856145
Finding
Incoordination
MedGen UID:
351047
Concept ID:
C1864113
Finding
Seizures
MedGen UID:
409523
Concept ID:
C1959629
Finding
Hydrocephalus
MedGen UID:
369747
Concept ID:
C1963137
Finding
Tremor
MedGen UID:
776582
Concept ID:
C2364114
Finding
Dandy-Walker malformation
MedGen UID:
504796
Concept ID:
CN001196
Finding
A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.
Abnormality of the cerebellum
MedGen UID:
427866
Concept ID:
CN001207
Finding
An abnormality of the cerebellum.
Porencephaly
MedGen UID:
427911
Concept ID:
CN001932
Finding
A disorder of the brain in which a cyst or cavity filled with cerebrospinal fluid develops in the cerebral hemisphere.
Hypothalamic hamartoma
MedGen UID:
505237
Concept ID:
CN002219
Finding
The presence of a hamartoma of the hypothalamus.
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.
Aplasia/Hypoplasia of the corpus callosum
MedGen UID:
425895
Concept ID:
CN006451
Finding
Absence or underdevelopment of the corpus callosum.
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.
Microretrognathia
MedGen UID:
326907
Concept ID:
C1839546
Finding
Microcephaly
MedGen UID:
337454
Concept ID:
C1845868
Finding
Finger syndactyly
MedGen UID:
376634
Concept ID:
C1849671
Finding
Cone-shaped epiphysis
MedGen UID:
351282
Concept ID:
C1865037
Finding
Micrognathia
MedGen UID:
401012
Concept ID:
C1866485
Finding
Polydactyly
MedGen UID:
776570
Concept ID:
C2117329
Finding
Syndactyly
MedGen UID:
776571
Concept ID:
C2117411
Finding
Radial deviation of finger
MedGen UID:
473540
Concept ID:
C2178410
Finding
Reduced bone mineral density
MedGen UID:
393152
Concept ID:
C2674432
Finding
Brachydactyly syndrome
MedGen UID:
500899
Concept ID:
CN001088
Finding
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.
Postaxial hand polydactyly
MedGen UID:
427858
Concept ID:
CN001092
Finding
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
Preaxial hand polydactyly
MedGen UID:
428248
Concept ID:
CN001102
Finding
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.
Dandy-Walker malformation
MedGen UID:
504796
Concept ID:
CN001196
Finding
A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.
Abnormality of toe
MedGen UID:
427896
Concept ID:
CN001615
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.
Short toe
MedGen UID:
500911
Concept ID:
CN001658
Finding
A toe that appears disproportionately short compared to the foot.
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.
Clinodactyly of the 5th finger
MedGen UID:
425227
Concept ID:
CN003724
Finding
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Tarsal synostosis
MedGen UID:
425983
Concept ID:
CN007362
Finding
Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones).
Cheekbone underdevelopment
MedGen UID:
430039
Concept ID:
CN009495
Finding
Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic process of the temporal bone of the skull, which forms the middle and lateral inferior orbital margin.
Clinodactyly
MedGen UID:
807884
Concept ID:
CN220788
Finding
An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
Pancreatic cysts
MedGen UID:
348096
Concept ID:
C1860394
Finding
Hepatic fibrosis
MedGen UID:
504827
Concept ID:
CN001276
Finding
The presence of fibrosis of the liver tissue.
Hepatic cysts
MedGen UID:
504832
Concept ID:
CN001288
Finding
Exocrine pancreatic insufficiency
MedGen UID:
504939
Concept ID:
CN001582
Finding
Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes.
Elevated hepatic transaminases
MedGen UID:
505403
Concept ID:
CN002632
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.
Cystic liver disease
MedGen UID:
428648
Concept ID:
CN005838
Finding
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:
368099
Concept ID:
C1963094
Finding
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.
Coarse hair
MedGen UID:
505157
Concept ID:
CN002002
Finding
Hair shafts are rough in texture.
Sparse hair
MedGen UID:
501034
Concept ID:
CN007096
Finding
Reduced density of hairs.
Lip pit
MedGen UID:
506460
Concept ID:
CN117163
Finding
A depression located on a lip.
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
An abnormality of the heart.
Aneurysm
MedGen UID:
428304
Concept ID:
CN002379
Finding
Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
abnormal presence of protein in urine
Finger syndactyly
MedGen UID:
376634
Concept ID:
C1849671
Finding
Polydactyly
MedGen UID:
776570
Concept ID:
C2117329
Finding
Syndactyly
MedGen UID:
776571
Concept ID:
C2117411
Finding
Radial deviation of finger
MedGen UID:
473540
Concept ID:
C2178410
Finding
Brachydactyly syndrome
MedGen UID:
500899
Concept ID:
CN001088
Finding
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.
Postaxial hand polydactyly
MedGen UID:
427858
Concept ID:
CN001092
Finding
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
Preaxial hand polydactyly
MedGen UID:
428248
Concept ID:
CN001102
Finding
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.
Abnormality of toe
MedGen UID:
427896
Concept ID:
CN001615
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.
Short toe
MedGen UID:
500911
Concept ID:
CN001658
Finding
A toe that appears disproportionately short compared to the foot.
Clinodactyly of the 5th finger
MedGen UID:
425227
Concept ID:
CN003724
Finding
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Tarsal synostosis
MedGen UID:
425983
Concept ID:
CN007362
Finding
Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones).
Clinodactyly
MedGen UID:
807884
Concept ID:
CN220788
Finding
An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGOral-facial-digital syndrome

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

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
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
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

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
Lindeboom JA, Kroon FH, de Vires J, van den Akker HP
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2003 Apr;95(4):458-62. doi: 10.1067/moe.2003.35. PMID: 12686930
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

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
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

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