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Chromosome 1p36 deletion syndrome

MedGen UID:
334629
Concept ID:
C1842870
Disease or Syndrome
Synonyms: 1p36 Deletion Syndrome; 1p36 microdeletion syndrome ; 1p36.33 deletion; distal monosomy 1p36; Monosomy 1p36 syndrome
SNOMED CT: Distal monosomy 1p36 (699306003); Monosomy 1p36 syndrome (699306003); Chromosome 1p36 deletion syndrome (699306003); 1p36 deletion syndrome (699306003)
 
Cytogenetic location: 1p36
OMIM: 607872

Disease characteristics

Excerpted from the GeneReview: 1p36 Deletion Syndrome
1p36 deletion syndrome is characterized by typical craniofacial features consisting of straight eyebrows, deeply set eyes, midface retrusion, wide and depressed nasal bridge, long philtrum, pointed chin, large, late-closing anterior fontanel (77%), microbrachycephaly (65%), epicanthal folds (50%), and posteriorly rotated, low-set, abnormal ears. Other characteristic findings include brachy/camptodactyly and short feet. Developmental delay/intellectual disability of variable degree are present in all, and hypotonia in 95%. Seizures occur in 44%-58% of affected individuals. Other findings include structural brain abnormalities (88%), congenital heart defects (71%), eye/vision problems (52%), hearing loss (47%), skeletal anomalies (41%), abnormalities of the external genitalia (25%), and renal abnormalities (22%). [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Agatino Battaglia   view full author information

Additional descriptions

From OMIM
The constitutional deletion of chromosome 1p36 results in a syndrome with multiple congenital anomalies and mental retardation (Shapira et al., 1997). Monosomy 1p36 is the most common terminal deletion syndrome in humans, occurring in 1 in 5,000 births (Shaffer and Lupski, 2000; Heilstedt et al., 2003).  http://www.omim.org/entry/607872
From GHR
1p36 deletion syndrome is a disorder that typically causes severe intellectual disability. Most affected individuals do not speak, or speak only a few words. They may have temper tantrums, bite themselves, or exhibit other behavior problems. Most have structural abnormalities of the brain, and seizures occur in more than half of individuals with this disorder. Affected individuals usually have weak muscle tone (hypotonia) and swallowing difficulties (dysphagia). People with 1p36 deletion syndrome have a small head that is also unusually short and wide in proportion to its size (microbrachycephaly). Affected individuals also have distinctive facial features including deep-set eyes with straight eyebrows; a sunken appearance of the middle of the face (midface hypoplasia); a broad, flat nose; a long area between the nose and mouth (philtrum); a pointed chin; and ears that are low-set, rotated backwards, and abnormally shaped. People with 1p36 deletion syndrome may have vision or hearing problems. Some have abnormalities of the skeleton, heart, gastrointestinal system, kidneys, or genitalia.  http://ghr.nlm.nih.gov/condition/1p36-deletion-syndrome

Clinical features

Neuroblastoma
MedGen UID:
505432
Concept ID:
CN002717
Finding
Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum.
Renal cyst
MedGen UID:
776573
Concept ID:
C2173677
Finding
A cyst is a fluid-filled sac. There are two types of kidney cysts. . Polycystic kidney disease (PKD) runs in families. In PKD, the cysts take the place of the normal tissue. They enlarge the kidneys and make them work poorly, leading to kidney failure. When PKD causes kidneys to fail - which usually happens after many years - people need dialysis or kidney transplantation. About half of people with the most common type of PKD end up with kidney failure. PKD also causes cysts in other parts of the body, such as the liver. . Symptoms of PKD include: -Pain in the back and lower sides. -Headaches. -Urinary tract infections. -Blood in the urine. Doctors diagnose PKD with imaging tests and family history. Treatments include medications, and, when people with PKD develop kidney failure, dialysis or kidney transplants. Acquired cystic kidney disease (ACKD) usually happens in people who are on dialysis. Unlike PKD, the kidneys are normal sized, and cysts do not form in other parts of the body. People with ACKD already have chronic kidney disease when they develop cysts. ACKD often has no symptoms. In most cases, the cysts are harmless and do not need treatment. . NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Cryptorchidism
MedGen UID:
504309
Concept ID:
CN000029
Finding
Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis.
Hypospadias
MedGen UID:
504317
Concept ID:
CN000047
Finding
Displacement of the urethral opening on the ventral (inferior) surface of the penis.
Abnormality of female external genitalia
MedGen UID:
446335
Concept ID:
CN000055
Finding
An abnormality of the `female external genitalia` (FMA:45649).
Abnormality of the kidney
MedGen UID:
427390
Concept ID:
CN000077
Finding
An abnormality of the `kidney` (FMA:7203).
Displacement of the external urethral meatus
MedGen UID:
451918
Concept ID:
CN117519
Finding
A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina).
Narrow mouth
MedGen UID:
504373
Concept ID:
CN000156
Finding
Distance between the commissures of the `mouth` (FMA:49184) more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
Submucous cleft hard palate
MedGen UID:
504380
Concept ID:
CN000171
Finding
Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.
Bifid uvula
MedGen UID:
504386
Concept ID:
CN000187
Finding
`Uvula` (FMA:55022) separated into two parts most easily seen at the tip.
Cleft upper lip
MedGen UID:
504391
Concept ID:
CN000197
Finding
A gap in the `upper lip` (FMA:59817). 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).
Abnormality of the fontanelles and cranial sutures
MedGen UID:
427802
Concept ID:
CN000227
Finding
Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments ).
Brachycephaly
MedGen UID:
504407
Concept ID:
CN000240
Finding
An `abnormality of skull shape` (HP:0002648) characterized by a `decreased anterior-posterior diameter` (PATO:0002042). That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
Abnormality of the mandible
MedGen UID:
446345
Concept ID:
CN000263
Finding
Any abnormality of the `mandible` (FMA:52748), the bone of the lower jaw.
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).
Wide nasal bridge
MedGen UID:
504442
Concept ID:
CN000404
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Abnormality of the neck
MedGen UID:
424994
Concept ID:
CN000433
Finding
An abnormality of the `neck` (FMA:7155).
Deeply set eye
MedGen UID:
504464
Concept ID:
CN000458
Finding
An `eye` (FMA:54448) that is more deeply recessed into the plane of the face than is typical.
Abnormality of the eyebrow
MedGen UID:
446365
Concept ID:
CN000500
Finding
An abnormality of the `eyebrow` (FMA:54237).
Blepharophimosis
MedGen UID:
504508
Concept ID:
CN000545
Finding
A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
Upslanted palpebral fissure
MedGen UID:
504509
Concept ID:
CN000546
Finding
The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.
Delayed closure of the anterior fontanelle
MedGen UID:
425058
Concept ID:
CN001352
Finding
A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.
Frontal bossing
MedGen UID:
505049
Concept ID:
CN001816
Finding
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Depressed nasal bridge
MedGen UID:
446656
Concept ID:
CN004681
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Abnormality of the hairline
MedGen UID:
428970
Concept ID:
CN008419
Finding
The hairline refers to the outline of `hair of the head` (FMA:54241). An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
Misalignment of the visual axes of the eyes. In comitant strabismus the degree of ocular misalignment does not vary with the direction of gaze. In noncomitant strabismus the degree of misalignment varies depending on direction of gaze or which eye is fixating on the target. (Miller, Walsh & Hoyt's Clinical Neuro-Ophthalmology, 4th ed, p641)
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).
Deeply set eye
MedGen UID:
504464
Concept ID:
CN000458
Finding
An `eye` (FMA:54448) that is more deeply recessed into the plane of the face than is typical.
Visual impairment
MedGen UID:
504469
Concept ID:
CN000473
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Hypermetropia
MedGen UID:
504484
Concept ID:
CN000506
Finding
An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.
Myopia
MedGen UID:
504487
Concept ID:
CN000511
Finding
An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.
Optic nerve coloboma
MedGen UID:
504511
Concept ID:
CN000551
Finding
A cleft of the optic nerve that extends inferiorly.
Optic atrophy
MedGen UID:
504537
Concept ID:
CN000609
Finding
`Atrophy` (MPATH:127) of the `optic nerve` (FMA:50863). Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
Ocular albinism
MedGen UID:
504729
Concept ID:
CN001040
Finding
An abnormal reduction in the amount of pigmentation (reduced or absent) of the `iris` (FMA:58235) and retina.
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.
Conductive hearing impairment
MedGen UID:
504435
Concept ID:
CN000378
Finding
An abnormality of `vibrational conductance of sound to the inner ear` (GO:0055127) leading to impairment of `sensory perception of sound` (GO:0007605).
Sensorineural hearing impairment
MedGen UID:
504436
Concept ID:
CN000380
Finding
A type of `hearing impairment` (HP:0000365) in one or both ears related to an `abnormal` (PATO:0000460) `functionality` (PATO:0001509) of the `cochlear nerve` (FMA:53431).
Asymmetry of the ears
MedGen UID:
430052
Concept ID:
CN009548
Finding
An `asymmetriy` (PATO:0000616), i.e., difference in size or shape between the left and right `ear` (FMA:52780 ).
West syndrome
MedGen UID:
11519
Concept ID:
C0037769
Disease or Syndrome
X-linked infantile spasm syndrome is a seizure disorder characterized by a type of seizure known as infantile spasms. The spasms usually appear before the age of 1. Several types of spasms have been described, but the most commonly reported involves bending at the waist and neck with extension of the arms and legs (sometimes called a jackknife spasm). Each spasm lasts only seconds, but they occur in clusters several minutes long. Although individuals are not usually affected while they are sleeping, the spasms commonly occur just after awakening. Infantile spasms usually disappear by age 5, but many children then develop other types of seizures that recur throughout their lives. Most babies with X-linked infantile spasm syndrome have characteristic results on an electroencephalogram (EEG), a test used to measure the electrical activity of the brain. The EEG of these individuals typically shows an irregular pattern known as hypsarrhythmia, and this finding can help differentiate infantile spasms from other types of seizures. Because of the recurrent seizures, babies with X-linked infantile spasm syndrome stop developing normally and begin to lose skills they have acquired (developmental regression), such as sitting, rolling over, and babbling. Subsequently, development in affected children is delayed. Most affected individuals also have intellectual disability throughout their lives.
Autism
MedGen UID:
504569
Concept ID:
CN000674
Finding
Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).
Stereotypic behavior
MedGen UID:
427832
Concept ID:
CN000689
Finding
A repetitive behaviour that does not serve an observable goal. In general the movements are not aimed at the environment, but at the person itself. Stereotypical behaviour is seen especially in children with sensory, intellectual and/or cognitive handicaps.
Delayed speech and language development
MedGen UID:
504583
Concept ID:
CN000706
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Global developmental delay
MedGen UID:
504774
Concept ID:
CN001157
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.
Pachygyria
MedGen UID:
504794
Concept ID:
CN001193
Finding
A congenital abnormality of the cerebral hemisphere chacterized by unusually thick gyrations (convolutions) of the cerebral cortex.
Ventriculomegaly
MedGen UID:
505112
Concept ID:
CN001919
Finding
An increase in size of the ventricular system of the brain.
Cerebral cortical atrophy
MedGen UID:
505113
Concept ID:
CN001920
Finding
Atrophy of the cortex of the cerebrum.
Polymicrogyria
MedGen UID:
505116
Concept ID:
CN001926
Finding
A congenital abnormality of the cerebral hemisphere characterized by an excessive number of small gyri (convolutions) on the surface of the brain.
Delayed CNS myelination
MedGen UID:
500919
Concept ID:
CN001984
Finding
`Delayed` (PATO:0000502) `myelination` (GO:0042552) in the central nervous system.
Leukoencephalopathy
MedGen UID:
505209
Concept ID:
CN002135
Finding
This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.
Neuroblastoma
MedGen UID:
505432
Concept ID:
CN002717
Finding
Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum.
Hemiplegia/hemiparesis
MedGen UID:
446595
Concept ID:
CN003873
Finding
Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.
Aplasia/Hypoplasia of the corpus callosum
MedGen UID:
425895
Concept ID:
CN006451
Finding
Absence or underdevelopment of the `corpus callosum` (FMA:86464).
Oppositional defiant disorder
MedGen UID:
506407
Concept ID:
CN116599
Finding
An enduring pattern of uncooperative, defiant, and hostile behavior toward authority figures that does not involve major antisocial violations, is not accounted for by the child's developmental stage, and results in significant functional impairment. A certain level of oppositional behavior is common in children and adolescents.
Self-injurious behavior
MedGen UID:
506521
Concept ID:
CN117607
Finding
Aggression towards oneself.
Congenital hypothyroidism
MedGen UID:
504626
Concept ID:
CN000797
Finding
A type of `hypothyroidism` (HP:0000821) with `congenital onset` (HP:0003577).
Abnormality of the fontanelles and cranial sutures
MedGen UID:
427802
Concept ID:
CN000227
Finding
Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments ).
Brachycephaly
MedGen UID:
504407
Concept ID:
CN000240
Finding
An `abnormality of skull shape` (HP:0002648) characterized by a `decreased anterior-posterior diameter` (PATO:0002042). That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
Abnormality of the mandible
MedGen UID:
446345
Concept ID:
CN000263
Finding
Any abnormality of the `mandible` (FMA:52748), the bone of the lower jaw.
Abnormality of the ribs
MedGen UID:
427835
Concept ID:
CN000726
Finding
An anomaly of the `rib` (FMA:7574).
Bifid ribs
MedGen UID:
504644
Concept ID:
CN000837
Finding
A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray.
Rib fusion
MedGen UID:
504648
Concept ID:
CN000846
Finding
Complete or partial merging of adjacent ribs.
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.
Hip dysplasia
MedGen UID:
504822
Concept ID:
CN001267
Finding
The presence of `developmental dysplasia` (MPATH:64) of the `hip` (FMA:24964).
Delayed closure of the anterior fontanelle
MedGen UID:
425058
Concept ID:
CN001352
Finding
A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.
Pes cavus
MedGen UID:
425071
Concept ID:
CN001601
Finding
The presence of an unusually high `plantar arch` (FMA:43942). Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight.
Foot polydactyly
MedGen UID:
427897
Concept ID:
CN001656
Finding
A kind of `polydactyly` (HP:0010442) characterized by the presence of a supernumerary toe or toes.
Short toe
MedGen UID:
500911
Concept ID:
CN001658
Finding
A `toe` (FMA:25046) that appears disproportionately short compared to the foot.
Metatarsus adductus
MedGen UID:
504970
Concept ID:
CN001665
Finding
The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body.
Frontal bossing
MedGen UID:
505049
Concept ID:
CN001816
Finding
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Scoliosis
MedGen UID:
427922
Concept ID:
CN002409
Finding
The presence of an abnormal lateral curvature of the spine.
Delayed skeletal maturation
MedGen UID:
505344
Concept ID:
CN002495
Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Spinal canal stenosis
MedGen UID:
505534
Concept ID:
CN003081
Finding
An abnormal narrowing of the spinal canal.
Clinodactyly of the 5th finger
MedGen UID:
425227
Concept ID:
CN003724
Finding
Clinodactyly refers to a bending or curvature of the `fifth finger` (FMA:24949) in the radial direction (i.e., towards the 4th finger).
Short 5th finger
MedGen UID:
426075
Concept ID:
CN008120
Finding
Hypoplasia (congenital reduction in size) of the `fifth finger` (FMA:24949), also known as the little finger.
Camptodactyly of finger
MedGen UID:
451844
Concept ID:
CN117383
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
Lower limb asymmetry
MedGen UID:
451882
Concept ID:
CN117452
Finding
A difference in length or diameter between the left and right leg.
Pyloric stenosis
MedGen UID:
18780
Concept ID:
C0034194
Finding
Narrowing of the pyloric canal with varied etiology. A common form is due to muscle hypertrophy (PYLORIC STENOSIS, HYPERTROPHIC) seen in infants.
Hepatic steatosis
MedGen UID:
427871
Concept ID:
CN001278
Finding
The presence of `steatosis` (MPATH:622) in the `liver` (FMA:7197).
Annular pancreas
MedGen UID:
504936
Concept ID:
CN001578
Finding
A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum.
Abnormality of the spleen
MedGen UID:
425070
Concept ID:
CN001587
Finding
An abnormality of the `spleen` (FMA:7196).
Gastroesophageal reflux
MedGen UID:
505057
Concept ID:
CN001828
Finding
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
Abnormality of the intestine
MedGen UID:
427914
Concept ID:
CN002033
Finding
An abnormality of the `intestine` (FMA:7199). The closely related term enteropathy is used to refer to any disease of the intestine.
Abnormality of the anus
MedGen UID:
425260
Concept ID:
CN003877
Finding
Abnormality of the `anal canal` (FMA:15703).
Growth delay
MedGen UID:
500905
Concept ID:
CN001379
Finding
A deficiency or slowing down of growth pre- and postnatally.
Lower limb asymmetry
MedGen UID:
451882
Concept ID:
CN117452
Finding
A difference in length or diameter between the left and right leg.
Hirsutism
MedGen UID:
42461
Concept ID:
C0019572
Finding
A disorder characterized by the presence of excessive hair growth in women in anatomic sites where growth is considered to be a secondary male characteristic (beard, moustache, chest, abdomen), where hair growth is under androgen control.
Abnormality of the eyebrow
MedGen UID:
446365
Concept ID:
CN000500
Finding
An abnormality of the `eyebrow` (FMA:54237).
Hypermelanotic macule
MedGen UID:
500898
Concept ID:
CN000969
Finding
A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.
Abnormal blistering of the skin
MedGen UID:
428779
Concept ID:
CN007093
Finding
The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.
Abnormality of the hairline
MedGen UID:
428970
Concept ID:
CN008419
Finding
The hairline refers to the outline of `hair of the head` (FMA:54241). An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair.
Teleangiectasia of the skin
MedGen UID:
451896
Concept ID:
CN117478
Finding
Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.
Tetralogy of Fallot
MedGen UID:
504882
Concept ID:
CN001489
Finding
A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present.
Hypertrophic cardiomyopathy
MedGen UID:
504884
Concept ID:
CN001492
Finding
Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.
Patent ductus arteriosus
MedGen UID:
504886
Concept ID:
CN001496
Finding
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.
Dilated cardiomyopathy
MedGen UID:
504887
Concept ID:
CN001497
Finding
Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.
Bicuspid aortic valve
MedGen UID:
504889
Concept ID:
CN001500
Finding
The presence of an `aortic valve` (FMA:7236) with two instead of the normal three cusps (flaps).
Abnormality of the heart valves
MedGen UID:
446421
Concept ID:
CN001506
Finding
An abnormality of a `Cardiac valve` (FMA:7110).
Patent foramen ovale
MedGen UID:
504895
Concept ID:
CN001507
Finding
Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria.
Abnormality of the cardiac septa
MedGen UID:
428275
Concept ID:
CN001520
Finding
An anomaly of the intra-atrial or intraventricular septum.
Abnormality of the aorta
MedGen UID:
425067
Concept ID:
CN001528
Finding
An abnormality of the `aorta` (FMA:3734).
Ebstein's anomaly of the tricuspid valve
MedGen UID:
447242
Concept ID:
CN009148
Finding
Ebstein's anomaly refers to an abnormally placed and deformed tricuspid valve characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet.
Abnormal lung lobation
MedGen UID:
505103
Concept ID:
CN001902
Finding
Defects in the formation of pulmonary lobules.
Abnormality of the spleen
MedGen UID:
425070
Concept ID:
CN001587
Finding
An abnormality of the `spleen` (FMA:7196).
Abnormality of immune system physiology
MedGen UID:
451258
Concept ID:
CN116711
Finding
A functional abnormality of the `immune system` (FMA:9825).
Muscular hypotonia
MedGen UID:
504768
Concept ID:
CN001147
Finding
Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.
Myopathy
MedGen UID:
505479
Concept ID:
CN002886
Finding
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
Camptodactyly of finger
MedGen UID:
451844
Concept ID:
CN117383
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
Camptodactyly of finger
MedGen UID:
451844
Concept ID:
CN117383
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGChromosome 1p36 deletion syndrome

Recent clinical studies

Etiology

Kanabar G, Boyd S, Schugal A, Bhate S
Seizure 2012 Jun;21(5):402-6. Epub 2012 Mar 16 doi: 10.1016/j.seizure.2012.02.004. [Epub ahead of print] PMID: 22425009
Hirschfeldova K, Baxova A, Kebrdlova V, Solc R, Mihalova R, Lnenicka P, Vesela K, Stekrova J
Genet Test Mol Biomarkers 2011 Sep;15(9):607-11. Epub 2011 Apr 7 doi: 10.1089/gtmb.2010.0218. [Epub ahead of print] PMID: 21473681

Diagnosis

Zagalo A, Dias P, Pereira C, Sampaio Mde L
BMJ Case Rep 2012 Mar 20;2012 doi: 10.1136/bcr.01.2012.5503. PMID: 22605691Free PMC Article
Kanabar G, Boyd S, Schugal A, Bhate S
Seizure 2012 Jun;21(5):402-6. Epub 2012 Mar 16 doi: 10.1016/j.seizure.2012.02.004. [Epub ahead of print] PMID: 22425009
Mroch AR, Flanagan JD, Stein QP
Curr Probl Pediatr Adolesc Health Care 2012 Mar;42(3):74-8. doi: 10.1016/j.cppeds.2011.10.003. PMID: 22325475
Saito Y, Kubota M, Kurosawa K, Ichihashi I, Kaneko Y, Hattori A, Komaki H, Nakagawa E, Sugai K, Sasaki M
Brain Dev 2011 May;33(5):437-41. Epub 2010 Aug 13 doi: 10.1016/j.braindev.2010.07.004. [Epub ahead of print] PMID: 20708863
Chen CP, Chen M, Su YN, Hsu CY, Tsai FJ, Chern SR, Wu PC, Lee CC, Wang W
Taiwan J Obstet Gynecol 2010 Dec;49(4):473-80. doi: 10.1016/S1028-4559(10)60100-3. PMID: 21199750

Prognosis

Giannikou K, Fryssira H, Oikonomakis V, Syrmou A, Kosma K, Tzetis M, Kitsiou-Tzeli S, Kanavakis E
Gene 2012 Sep 15;506(2):360-8. Epub 2012 Jul 2 doi: 10.1016/j.gene.2012.06.060. [Epub ahead of print] PMID: 22766398
Mroch AR, Flanagan JD, Stein QP
Curr Probl Pediatr Adolesc Health Care 2012 Mar;42(3):74-8. doi: 10.1016/j.cppeds.2011.10.003. PMID: 22325475

Clinical prediction guides

Arndt AK, Schafer S, Drenckhahn JD, Sabeh MK, Plovie ER, Caliebe A, Klopocki E, Musso G, Werdich AA, Kalwa H, Heinig M, Padera RF, Wassilew K, Bluhm J, Harnack C, Martitz J, Barton PJ, Greutmann M, Berger F, Hubner N, Siebert R, Kramer HH, Cook SA, MacRae CA, Klaassen S
Am J Hum Genet 2013 Jul 11;93(1):67-77. Epub 2013 Jun 13 doi: 10.1016/j.ajhg.2013.05.015. [Epub ahead of print] PMID: 23768516Free PMC Article
Mroch AR, Flanagan JD, Stein QP
Curr Probl Pediatr Adolesc Health Care 2012 Mar;42(3):74-8. doi: 10.1016/j.cppeds.2011.10.003. PMID: 22325475
Lo Vasco VR
Eur Neurol 2011;65(5):264-9. Epub 2011 Apr 8 doi: 10.1159/000327307. [Epub ahead of print] PMID: 21474938
Okamoto N, Toribe Y, Nakajima T, Okinaga T, Kurosawa K, Nonaka I, Shimokawa O, Matsumoto N
J Hum Genet 2002;47(10):556-9. doi: 10.1007/s100380200085. PMID: 12376748

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