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Char syndrome(CHAR)

MedGen UID:
358356
Concept ID:
C1868570
Disease or Syndrome
Synonyms: CHAR; Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits
SNOMED CT: Char syndrome (703534001); Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits (703534001)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): TFAP2B (6p12.3)
 
Monarch Initiative: MONDO:0008209
OMIM®: 169100
Orphanet: ORPHA46627

Disease characteristics

Excerpted from the GeneReview: Char Syndrome
Char syndrome is characterized by the triad of typical facial features, patent ductus arteriosus, and aplasia or hypoplasia of the middle phalanges of the fifth fingers. Typical facial features are depressed nasal bridge and broad flat nasal tip, widely spaced eyes, downslanted palpebral fissures, mild ptosis, short philtrum with prominent philtral ridges with an upward pointing vermilion border resulting in a triangular mouth, and thickened (patulous) everted lips. Less common findings include other types of congenital heart defects, other hand and foot anomalies, hypodontia, hearing loss, myopia and/or strabismus, polythelia, parasomnia, craniosynostosis (involving either the metopic or sagittal suture), and short stature. [from GeneReviews]
Authors:
Bruce D Gelb   view full author information

Additional descriptions

From OMIM
Char syndrome (CHAR) is an autosomal dominant disorder characterized by patent ductus arteriosus (PDA), facial dysmorphism, and abnormal fifth digits of the hands (summary by Satoda et al., 1999).  http://www.omim.org/entry/169100
From MedlinePlus Genetics
Char syndrome is a condition that affects the development of the face, heart, and limbs. It is characterized by a combination of three major features: a distinctive facial appearance, a heart defect called patent ductus arteriosus, and hand abnormalities.

Most people with Char syndrome have a characteristic facial appearance that includes flattened cheek bones and a flat nasal bridge (the area of the nose between the eyes). The tip of the nose is also flat and broad. The eyes are wide-set with droopy eyelids (ptosis) and outside corners that point downward (down-slanting palpebral fissures). Additional facial differences include a shortened distance between the nose and upper lip (a short philtrum), a triangular-shaped mouth, and thick, prominent lips.

Patent ductus arteriosus is a common heart defect in newborns, and it occurs in most babies with Char syndrome. Before birth, the ductus arteriosus forms a connection between two major arteries (the aorta and the pulmonary artery). This connection normally closes shortly after birth, but it remains open in babies with patent ductus arteriosus. If untreated, this heart defect causes infants to breathe rapidly, feed poorly, and gain weight slowly. In severe cases, it can lead to heart failure. People with patent ductus arteriosus also have an increased risk of infection.

Hand abnormalities are another feature of Char syndrome. In most people with this condition, the middle section of the fifth (pinky) finger is shortened or absent. Other abnormalities of the hands and feet have been reported but are less common.  https://medlineplus.gov/genetics/condition/char-syndrome

Clinical features

From HPO
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).
Distal/middle symphalangism of 5th finger
MedGen UID:
358244
Concept ID:
C1868573
Finding
Fusion of the terminal/distal and middle phalanges of the 5th finger.
Patent ductus arteriosus
MedGen UID:
4415
Concept ID:
C0013274
Congenital Abnormality
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
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.
Protruding ear
MedGen UID:
343309
Concept ID:
C1855285
Finding
Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).
Intellectual disability, mild
MedGen UID:
10044
Concept ID:
C0026106
Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
Parasomnia
MedGen UID:
10582
Concept ID:
C0030508
Disease or Syndrome
An undesirable physical event or experience that occurs during the process of falling asleep, while asleep, or when waking up from sleep.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Broad nasal tip
MedGen UID:
98424
Concept ID:
C0426429
Finding
Increase in width of the nasal tip.
Broad forehead
MedGen UID:
338610
Concept ID:
C1849089
Finding
Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.
Triangular mouth
MedGen UID:
336578
Concept ID:
C1849341
Finding
The presence of a triangular form of the mouth.
Thick eyebrow
MedGen UID:
377914
Concept ID:
C1853487
Finding
Increased density/number and/or increased diameter of eyebrow hairs.
Short philtrum
MedGen UID:
350006
Concept ID:
C1861324
Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.
Highly arched eyebrow
MedGen UID:
358357
Concept ID:
C1868571
Finding
Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
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 (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Char syndrome in Orphanet.

Professional guidelines

PubMed

Zhao F, Weismann CG, Satoda M, Pierpont ME, Sweeney E, Thompson EM, Gelb BD
Am J Hum Genet 2001 Oct;69(4):695-703. Epub 2001 Aug 14 doi: 10.1086/323410. PMID: 11505339Free PMC Article

Recent clinical studies

Etiology

Chen YW, Zhao W, Zhang ZF, Fu Q, Shen J, Zhang Z, Ji W, Wang J, Li F
Pediatr Cardiol 2011 Oct;32(7):958-65. Epub 2011 Jun 4 doi: 10.1007/s00246-011-0024-7. PMID: 21643846
Forsey JT, Elmasry OA, Martin RP
Orphanet J Rare Dis 2009 Jul 10;4:17. doi: 10.1186/1750-1172-4-17. PMID: 19591690Free PMC Article

Diagnosis

Raap M, Gierendt L, Kreipe HH, Christgen M
Int J Cancer 2021 Sep 15;149(6):1221-1227. Epub 2021 Mar 26 doi: 10.1002/ijc.33558. PMID: 33720400
Nyboe D, Kreiborg S, Darvann T, Dunø M, Nissen KR, Hove HB
Clin Dysmorphol 2018 Jul;27(3):71-77. doi: 10.1097/MCD.0000000000000222. PMID: 29683802
Babaoğlu K, Oruç M, Günlemez A, Gelb BD
Anadolu Kardiyol Derg 2012 Sep;12(6):523-4. Epub 2012 Jun 22 doi: 10.5152/akd.2012.165. PMID: 22728731
Forsey JT, Elmasry OA, Martin RP
Orphanet J Rare Dis 2009 Jul 10;4:17. doi: 10.1186/1750-1172-4-17. PMID: 19591690Free PMC Article
Bertola DR, Kim CA, Sugayama SM, Utagawa CY, Albano LM, Gonzalez CH
Pediatr Int 2000 Feb;42(1):85-8. doi: 10.1046/j.1442-200x.2000.01158.x. PMID: 10703243

Prognosis

Raap M, Gierendt L, Kreipe HH, Christgen M
Int J Cancer 2021 Sep 15;149(6):1221-1227. Epub 2021 Mar 26 doi: 10.1002/ijc.33558. PMID: 33720400
Tanasubsinn N, Sittiwangkul R, Pongprot Y, Kawasaki K, Ohazama A, Sastraruji T, Kaewgahya M, Kantaputra PN
J Hum Genet 2017 Aug;62(8):769-775. Epub 2017 Apr 6 doi: 10.1038/jhg.2017.37. PMID: 28381879Free PMC Article
Forsey JT, Elmasry OA, Martin RP
Orphanet J Rare Dis 2009 Jul 10;4:17. doi: 10.1186/1750-1172-4-17. PMID: 19591690Free PMC Article

Clinical prediction guides

Wang J, Ji W, Zhu D, Wang W, Chen Y, Zhang Z, Li F
J Surg Res 2018 Jul;227:178-185. Epub 2018 Mar 19 doi: 10.1016/j.jss.2018.02.038. PMID: 29804851
Tanasubsinn N, Sittiwangkul R, Pongprot Y, Kawasaki K, Ohazama A, Sastraruji T, Kaewgahya M, Kantaputra PN
J Hum Genet 2017 Aug;62(8):769-775. Epub 2017 Apr 6 doi: 10.1038/jhg.2017.37. PMID: 28381879Free PMC Article
Zhao F, Bosserhoff AK, Buettner R, Moser M
PLoS One 2011;6(7):e22908. Epub 2011 Jul 29 doi: 10.1371/journal.pone.0022908. PMID: 21829553Free PMC Article
Chen YW, Zhao W, Zhang ZF, Fu Q, Shen J, Zhang Z, Ji W, Wang J, Li F
Pediatr Cardiol 2011 Oct;32(7):958-65. Epub 2011 Jun 4 doi: 10.1007/s00246-011-0024-7. PMID: 21643846
Khau Van Kien P, Wolf JE, Mathieu F, Zhu L, Salve N, Lalande A, Bonnet C, Lesca G, Plauchu H, Dellinger A, Nivelon-Chevallier A, Brunotte F, Jeunemaitre X
Eur J Hum Genet 2004 Mar;12(3):173-80. doi: 10.1038/sj.ejhg.5201119. PMID: 14722581

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