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5p partial monosomy syndrome

MedGen UID:
41345
Concept ID:
C0010314
Disease or Syndrome
Synonyms: 5p deletion syndrome; 5p minus syndrome; 5p- syndrome; Cat cry syndrome; Chromosome 5p deletion syndrome; Chromosome 5p- syndrome; Cri du Chat Syndrome; Monosomy 5p
Modes of inheritance:
Sporadic
MedGen UID:
342827
Concept ID:
C1853237
Finding
Sources: HPO, OMIM
Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected.
Sporadic (HPO, OMIM)
SNOMED CT: 5p partial monosomy syndrome (70173007); Cri du chat syndrome (70173007); Lejeune syndrome (70173007); 5p minus syndrome (70173007); Partial deletion of short arm of chromosome 5 syndrome (70173007); Deletion of short arm of chromosome 5 (70173007)
 
OMIM®: 123450

Definition

Cri-du-chat syndrome was first described by Lejeune et al. (1963) as a hereditary congenital syndrome associated with deletion of part of the short arm of chromosome 5. The deletions can vary in size from extremely small and involving only band 5p15.2 to the entire short arm. Although the majority of deletions arise as new mutations, approximately 12% result from unbalanced segregation of translocations or recombination involving a pericentric inversion in one of the parents. [from GTR]

Additional descriptions

From OMIM
Cri-du-chat syndrome was first described by Lejeune et al. (1963) as a hereditary congenital syndrome associated with deletion of part of the short arm of chromosome 5. The deletions can vary in size from extremely small and involving only band 5p15.2 to the entire short arm. Although the majority of deletions arise as new mutations, approximately 12% result from unbalanced segregation of translocations or recombination involving a pericentric inversion in one of the parents.  http://www.omim.org/entry/123450
From GHR
Cri-du-chat (cat's cry) syndrome, also known as 5p- (5p minus) syndrome, is a chromosomal condition that results when a piece of chromosome 5 is missing. Infants with this condition often have a high-pitched cry that sounds like that of a cat. The disorder is characterized by intellectual disability and delayed development, small head size (microcephaly), low birth weight, and weak muscle tone (hypotonia) in infancy. Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face. Some children with cri-du-chat syndrome are born with a heart defect.  https://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome

Clinical features

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 (145410), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Myopia
MedGen UID:
44558
Concept ID:
C0027092
Disease or Syndrome
A refractive error in which rays of light entering the EYE parallel to the optic axis are brought to a focus in front of the RETINA when accommodation (ACCOMMODATION, OCULAR) is relaxed. This results from an overly curved CORNEA or from the eyeball being too long from front to back. It is also called nearsightedness.
Optic atrophy
MedGen UID:
18180
Concept ID:
C0029124
Disease or Syndrome
A disorder characterized by loss of optic nerve fibers. It may be inherited or acquired. Acquired causes include ischemia, optic nerve neuropathy, glaucoma, trauma, radiation, brain tumors, and multiple sclerosis. It leads to vision disturbances.
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)
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Acquired Abnormality
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Cryptorchidism, unilateral or bilateral
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Nephropathy
MedGen UID:
9635
Concept ID:
C0022658
Disease or Syndrome
A nonspecific term referring to disease or damage of the kidneys.
Hypospadias
MedGen UID:
305577
Concept ID:
C1691215
Congenital Abnormality
Displacement of the urethral opening on the ventral (inferior) surface of the penis.
Pes planus
MedGen UID:
42034
Concept ID:
C0016202
Anatomical Abnormality
A foot anomaly in which one or more of the arches of the foot have flattened out.
Syndactyly
MedGen UID:
52619
Concept ID:
C0039075
Congenital Abnormality
A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes. Syndactylies are classified as complete or incomplete by the degree of joining. Syndactylies can also be simple or complex. Simple syndactyly indicates joining of only skin or soft tissue; complex syndactyly marks joining of bony elements.
Intoe
MedGen UID:
534039
Concept ID:
C0231791
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.
Single transverse palmar crease
MedGen UID:
96108
Concept ID:
C0424731
Finding
A single transverse palmar crease is found in 5% of newborns and is frequently inherited as a familial trait. However, single palmar creases can be associated with Down's syndrome and other genetic disorders, or with fetal alcohol syndrome.
Short metacarpal
MedGen UID:
323064
Concept ID:
C1837084
Finding
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Short metatarsal
MedGen UID:
341358
Concept ID:
C1849020
Finding
Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.
High axial triradius
MedGen UID:
425026
Concept ID:
CN000977
Finding
Abnormality of cardiovascular system morphology
MedGen UID:
892473
Concept ID:
C4049796
Congenital Abnormality
Any structural anomaly of the heart and great vessels.
Small for gestational age
MedGen UID:
7064
Concept ID:
C0021288
Patient or Disabled Group
An infant having a birth weight of 2500 gm. (5.5 lb.) or less but INFANT, VERY LOW BIRTH WEIGHT is available for infants having a birth weight of 1500 grams (3.3 lb.) or less.
Growth delay
MedGen UID:
765377
Concept ID:
C3552463
Sign or Symptom
A deficiency or slowing down of growth pre- and postnatally.
Gastroesophageal reflux disease
MedGen UID:
6553
Concept ID:
C0017168
Disease or Syndrome
Gastroesophageal reflux (GER) is characterized by the retrograde movement of stomach contents into the esophagus. In its most severe form, GER results in extensive tissue damage caused by acid reflux. In adolescents and adults, and even infrequently in children, chronic GER is associated with the risk of developing Barrett metaplasia (614266), a premalignant lesion of the esophageal mucosa (Hu et al., 2000). In turn, Barrett metaplasia is correlated with the development of adenocarcinoma of the esophagus (see 614266), estimated as the fifth most prevalent neoplasia in the Western world (Lagergren et al., 1999).
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
An abdominal hernia with an external bulge in the GROIN region. It can be classified by the location of herniation. Indirect inguinal hernias occur through the internal inguinal ring. Direct inguinal hernias occur through defects in the ABDOMINAL WALL (transversalis fascia) in Hesselbach's triangle. The former type is commonly seen in children and young adults; the latter in adults.
Diastasis recti
MedGen UID:
113171
Concept ID:
C0221766
Anatomical Abnormality
A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba).
Feeding difficulties in infancy
MedGen UID:
436211
Concept ID:
C2674608
Finding
Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
Hearing impairment
MedGen UID:
5453
Concept ID:
C0018772
Finding
A condition in which a person partially loses the ability to hear sounds in one or both ears.
Hyperacusis
MedGen UID:
20497
Concept ID:
C0034880
Sign or Symptom
A disorder in which an individual has an abnormally low noise tolerance, and increased sensitivity to sounds.
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.
Narrow ear canal
MedGen UID:
108282
Concept ID:
C0576860
Finding
An abnormal narrowing of the external auditory canal.
Abnormality of the pinna
MedGen UID:
167800
Concept ID:
C0857379
Finding
An abnormality of the pinna, which is also referred to as the auricle or external ear.
Aggressive behavior
MedGen UID:
1375
Concept ID:
C0001807
Individual Behavior
A verbal or physical act of hostility.
Anxiety
MedGen UID:
1613
Concept ID:
C0003467
Finding
Apprehension of danger and dread accompanied by restlessness, tension, tachycardia, and dyspnea unattached to a clearly identifiable stimulus.
Autistic disorder of childhood onset
MedGen UID:
13966
Concept ID:
C0004352
Mental or Behavioral Dysfunction
Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006). Levy et al. (2009) provided a general review of autism and autism spectrum disorder, including epidemiology, characteristics of the disorder, diagnosis, neurobiologic hypotheses for the etiology, genetics, and treatment options. Genetic Heterogeneity of Autism Autism is considered to be a complex multifactorial disorder involving many genes. Accordingly, several loci have been identified, some or all of which may contribute to the phenotype. Included in this entry is AUTS1, which has been mapped to chromosome 7q22. Other susceptibility loci include AUTS3 (608049), which maps to chromosome 13q14; AUTS4 (608636), which maps to chromosome 15q11; AUTS5 (606053), which maps to chromosome 2q; AUTS6 (609378), which maps to chromosome 17q11; AUTS7 (610676), which maps to chromosome 17q21; AUTS8 (607373), which maps to chromosome 3q25-q27; AUTS9 (611015), which maps to chromosome 7q31; AUTS10 (611016), which maps to chromosome 7q36; AUTS11 (610836), which maps to chromosome 1q41; AUTS12 (610838), which maps to chromosome 21p13-q11; AUTS13 (610908), which maps to chromosome 12q14; AUTS14A (611913), which has been found in patients with a deletion of a region of 16p11.2; AUTS14B (614671), which has been found in patients with a duplication of a region of 16p11.2; AUTS15 (612100), associated with mutation in the CNTNAP2 gene (604569) on chromosome 7q35-q36; AUTS16 (613410), associated with mutation in the SLC9A9 gene (608396) on chromosome 3q24; AUTS17 (613436), associated with mutation in the SHANK2 gene (603290) on chromosome 11q13; and AUTS18 (615032), associated with mutation in the CHD8 gene (610528). (NOTE: the symbol 'AUTS2' has been used to refer to a gene on chromosome 7q11 (KIAA0442; 607270) and therefore is not used as a part of this autism locus series.) There are several X-linked forms of autism susceptibility: AUTSX1 (300425), associated with mutations in the NLGN3 gene (300336); AUTSX2 (300495), associated with mutations in NLGN4 (300427); AUTSX3 (300496), associated with mutations in MECP2 (300005); AUTSX4 (300830), associated with variation in the region on chromosome Xp22.11 containing the PTCHD1 gene (300828); AUTSX5 (300847), associated with mutations in the RPL10 gene (312173); and AUTSX6 (300872), associated with mutation in the TMLHE gene (300777). Folstein and Rosen-Sheidley (2001) reviewed the genetics of autism.
Echolalia
MedGen UID:
8532
Concept ID:
C0013528
Mental or Behavioral Dysfunction
A symptom of neurologic or psychiatric dysfunction in which the individual involuntarily and meaninglessly repeats a recently heard word, series of words, or a song.
Hypertonia
MedGen UID:
10132
Concept ID:
C0026826
Finding
A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
Oppositional defiant disorder
MedGen UID:
18178
Concept ID:
C0029121
Mental or Behavioral Dysfunction
A behavior disorder characterized by a persistent pattern of defiant, disobedient, and hostile behavior towards authority figures, manifested by a frequent loss of temper, arguing, becoming angry or vindictive, or other negativistic behaviors.
Hyperacusis
MedGen UID:
20497
Concept ID:
C0034880
Sign or Symptom
A disorder in which an individual has an abnormally low noise tolerance, and increased sensitivity to sounds.
Self-mutilation
MedGen UID:
19925
Concept ID:
C0036601
Injury or Poisoning
The act of injuring one's own body to the extent of cutting off or permanently destroying a limb or other essential part of a body.
Stereotyped behaviors
MedGen UID:
21318
Concept ID:
C0038271
Mental or Behavioral Dysfunction
A stereotypy is a repetitive, simple movement that can be voluntarily suppressed. Stereotypies are typically simple back-and-forth movements such as waving of flapping the hands or arms, and they do not involve complex sequences or movement fragments. Movement is often but not always rhythmic and may involve fingers, wrists, or more proximal portions of the upper extremity. The lower extremity is not typically involved. Stereotypies are more commonly bilateral than unilateral.
Short attention span
MedGen UID:
82652
Concept ID:
C0262630
Finding
Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder.
Difficulty walking
MedGen UID:
86319
Concept ID:
C0311394
Finding
Any persistent problem with walking.
Hyperactivity
MedGen UID:
98406
Concept ID:
C0424295
Finding
Excessive movement of muscles of the body as a whole, which may be associated with organic or psychological disorders.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
Delayed speech and language development
MedGen UID:
105318
Concept ID:
C0454644
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Conspicuously happy disposition
MedGen UID:
866682
Concept ID:
C4021029
Finding
An unusually happy aspect over time which can also may be observed during inappropriate situations that should be causing for example distress, fear or anger.
Overfriendliness
MedGen UID:
451419
Concept ID:
CN116924
Finding
A form of hypersociability that presents as mostly inappropriate people-orientation and friendliness towards others on an inadequate level which might go as far as being dangerous considering for example young children following strangers without restriction.
Functional respiratory abnormality
MedGen UID:
871200
Concept ID:
C4025677
Finding
Cryptorchidism, unilateral or bilateral
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Nephropathy
MedGen UID:
9635
Concept ID:
C0022658
Disease or Syndrome
A nonspecific term referring to disease or damage of the kidneys.
Hypospadias
MedGen UID:
305577
Concept ID:
C1691215
Congenital Abnormality
Displacement of the urethral opening on the ventral (inferior) surface of the penis.
Hypertonia
MedGen UID:
10132
Concept ID:
C0026826
Finding
A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
Diastasis recti
MedGen UID:
113171
Concept ID:
C0221766
Anatomical Abnormality
A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba).
Difficulty walking
MedGen UID:
86319
Concept ID:
C0311394
Finding
Any persistent problem with walking.
Neonatal hypotonia
MedGen UID:
412209
Concept ID:
C2267233
Disease or Syndrome
Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.
Recurrent infections in infancy and early childhood
MedGen UID:
336812
Concept ID:
C1844909
Finding
Recurrent infections at an early age with improvement in later childhood.
Cat cry
MedGen UID:
536297
Concept ID:
C0234861
Sign or Symptom
The presence of a characteristic high-pitched cry that sounds similar to the meowing of a kitten.
Scoliosis
MedGen UID:
21278
Concept ID:
C0037932
Finding
Deformities of the SPINE characterized by abnormal bending or flexure in the vertebral column. They may be bending forward (KYPHOSIS), backward (LORDOSIS), or sideway (SCOLIOSIS).
Syndactyly
MedGen UID:
52619
Concept ID:
C0039075
Congenital Abnormality
A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes. Syndactylies are classified as complete or incomplete by the degree of joining. Syndactylies can also be simple or complex. Simple syndactyly indicates joining of only skin or soft tissue; complex syndactyly marks joining of bony elements.
Intoe
MedGen UID:
534039
Concept ID:
C0231791
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.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Diminished length of the neck.
Short metacarpal
MedGen UID:
323064
Concept ID:
C1837084
Finding
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Microretrognathia
MedGen UID:
326907
Concept ID:
C1839546
Finding
A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.
Short metatarsal
MedGen UID:
341358
Concept ID:
C1849020
Finding
Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.
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 (145410), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Cleft lip/palate
MedGen UID:
57640
Concept ID:
C0158646
Finding
The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.
Facial grimacing
MedGen UID:
65891
Concept ID:
C0234853
Finding
High palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Cleft uvula
MedGen UID:
75600
Concept ID:
C0266122
Congenital Abnormality
Uvula separated into two parts most easily seen at the tip.
Downslanted palpebral fissures
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Diminished length of the neck.
Epicanthus
MedGen UID:
151862
Concept ID:
C0678230
Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).
Facial asymmetry
MedGen UID:
266298
Concept ID:
C1306710
Finding
A finding indicating the absence of balanced proportions between parts of the face.
Long face
MedGen UID:
324419
Concept ID:
C1836047
Finding
Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).
Microretrognathia
MedGen UID:
326907
Concept ID:
C1839546
Finding
A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.
Prominent supraorbital ridges
MedGen UID:
333982
Concept ID:
C1842060
Finding
Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones.
Narrow face
MedGen UID:
338616
Concept ID:
C1849121
Finding
Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).
Wide nasal bridge
MedGen UID:
341441
Concept ID:
C1849367
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Round face
MedGen UID:
341560
Concept ID:
C1856468
Finding
The facial appearance is more circular than usual as viewed from the front.
Preauricular skin tag
MedGen UID:
395989
Concept ID:
C1860816
Finding
A rudimentary tag of sking often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).
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.
Downturned corners of mouth
MedGen UID:
356471
Concept ID:
C1866195
Finding
A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure.
Thick lower lip vermilion
MedGen UID:
473520
Concept ID:
C2053437
Finding
Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).
Anterior open-bite malocclusion
MedGen UID:
870165
Concept ID:
C4024598
Anatomical Abnormality
A type of malocclusion in which there is a gap between the anterior teeth (incisors).
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
An abdominal hernia with an external bulge in the GROIN region. It can be classified by the location of herniation. Indirect inguinal hernias occur through the internal inguinal ring. Direct inguinal hernias occur through defects in the ABDOMINAL WALL (transversalis fascia) in Hesselbach's triangle. The former type is commonly seen in children and young adults; the latter in adults.
Premature graying of hair
MedGen UID:
75524
Concept ID:
C0263498
Finding
Development of gray hair at a younger than normal age.
Single transverse palmar crease
MedGen UID:
96108
Concept ID:
C0424731
Finding
A single transverse palmar crease is found in 5% of newborns and is frequently inherited as a familial trait. However, single palmar creases can be associated with Down's syndrome and other genetic disorders, or with fetal alcohol syndrome.
Preauricular skin tag
MedGen UID:
395989
Concept ID:
C1860816
Finding
A rudimentary tag of sking often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).
High axial triradius
MedGen UID:
425026
Concept ID:
CN000977
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV5p partial monosomy syndrome
Follow this link to review classifications for 5p partial monosomy syndrome in Orphanet.

Professional guidelines

PubMed

Dondorp W, de Wert G, Bombard Y, Bianchi DW, Bergmann C, Borry P, Chitty LS, Fellmann F, Forzano F, Hall A, Henneman L, Howard HC, Lucassen A, Ormond K, Peterlin B, Radojkovic D, Rogowski W, Soller M, Tibben A, Tranebjærg L, van El CG, Cornel MC; European Society of Human Genetics.; American Society of Human Genetics.
Eur J Hum Genet 2015 Nov;23(11):1438-50. Epub 2015 Mar 18 doi: 10.1038/ejhg.2015.57. PMID: 25782669Free PMC Article

Recent clinical studies

Etiology

Guala A, Spunton M, Tognon F, Pedrinazzi M, Medolago L, Cerutti Mainardi P, Spairani S, Malacarne M, Finale E, Comelli M, Danesino C
ScientificWorldJournal 2016;2016:3125283. Epub 2016 Nov 28 doi: 10.1155/2016/3125283. PMID: 28004033Free PMC Article
Espirito Santo LD, Moreira LM, Riegel M
Biomed Res Int 2016;2016:5467083. Epub 2016 Apr 7 doi: 10.1155/2016/5467083. PMID: 27144168Free PMC Article
Kristoffersen KE, Garmann NG, Simonsen HG
Clin Linguist Phon 2014 Oct;28(10):769-84. Epub 2014 Apr 1 doi: 10.3109/02699206.2014.904442. PMID: 24689530
Ballesta-Mudarra S, Machuca-Portillo G, Torres-Lagares D, Rodríguez-Caballero Á, Yáñez-Vico RM, Solano-Reina E, Perea-Pérez E
Med Oral Patol Oral Cir Bucal 2013 Nov 1;18(6):e883-7. PMID: 24121919Free PMC Article
Maas AP, Didden R, Korzilius H, Curfs LM
Res Dev Disabil 2012 Nov-Dec;33(6):1773-9. Epub 2012 Jun 13 doi: 10.1016/j.ridd.2012.04.017. PMID: 22699250

Diagnosis

Chen CP, Wang LK, Chern SR, Wu PS, Ko K, Chen YN, Chen SW, Lee MS, Wang W
Taiwan J Obstet Gynecol 2016 Aug;55(4):591-5. doi: 10.1016/j.tjog.2016.06.014. PMID: 27590389
Hope WC, Cordovez JA, Capasso JE, Hammersmith KM, Eagle RC, Lall-Trail J, Levin AV
J AAPOS 2015 Jun;19(3):277-9. doi: 10.1016/j.jaapos.2015.01.018. PMID: 26059676
Xie Y, Zhou Y, Wu J, Sun Y, Chen Y, Chen B
Mol Med Rep 2015 Mar;11(3):1933-8. Epub 2014 Nov 10 doi: 10.3892/mmr.2014.2920. PMID: 25385231
Sardina JM, Walters AR, Singh KE, Owen RX, Kimonis VE
Am J Med Genet A 2014 Jul;164A(7):1761-4. Epub 2014 Mar 26 doi: 10.1002/ajmg.a.36494. PMID: 24677774
Hong JH, Lee HY, Lim MK, Kim MY, Kang YH, Lee KH, Cho SG
Korean J Radiol 2013 Nov-Dec;14(6):960-2. Epub 2013 Nov 5 doi: 10.3348/kjr.2013.14.6.960. PMID: 24265573Free PMC Article

Therapy

Pizzamiglio MR, Nasti M, Piccardi L, Vitturini C, Morelli D, Guariglia C
Int J Rehabil Res 2008 Jun;31(2):151-4. doi: 10.1097/MRR.0b013e3282fbfbde. PMID: 18467929
Zuppa AA, Scorrano A, Cota F, D'Andrea V, Fracchiolla A, Romagnoli C
J Perinat Med 2007;35(4):339-43. doi: 10.1515/JPM.2007.066. PMID: 17614752
Brislin RP, Stayer SA, Schwartz RE
Paediatr Anaesth 1995;5(2):139-41. PMID: 7489425
Taylor WG, McIntosh AS
Br J Clin Pract 1990 Oct;44(10):424-5. PMID: 2268529
Weston AJ, Mader NT
Percept Mot Skills 1984 Jun;58(3):787-96. doi: 10.2466/pms.1984.58.3.787. PMID: 6236421

Prognosis

Espirito Santo LD, Moreira LM, Riegel M
Biomed Res Int 2016;2016:5467083. Epub 2016 Apr 7 doi: 10.1155/2016/5467083. PMID: 27144168Free PMC Article
Cochran L, Moss J, Nelson L, Oliver C
Am J Med Genet C Semin Med Genet 2015 Jun;169(2):188-97. Epub 2015 May 18 doi: 10.1002/ajmg.c.31438. PMID: 25989416
Myśliwiec M, Panasiuk B, Dębiec-Rychter M, Iwanowski PS, Łebkowska U, Nowakowska B, Marcinkowska A, Stankiewicz P, Midro AT
Am J Med Genet A 2015 Feb;167A(2):445-9. PMID: 25756154
Badoe EV
West Afr J Med 2014 Apr-Jun;33(2):154-6. PMID: 25236835
Albano S, Piccardi L, Pizzamiglio MR, Volpe C, D'Amico S
J Genet Psychol 2013 Jan-Feb;174(1):51-72. doi: 10.1080/00221325.2011.639409. PMID: 23534097

Clinical prediction guides

Guala A, Spunton M, Tognon F, Pedrinazzi M, Medolago L, Cerutti Mainardi P, Spairani S, Malacarne M, Finale E, Comelli M, Danesino C
ScientificWorldJournal 2016;2016:3125283. Epub 2016 Nov 28 doi: 10.1155/2016/3125283. PMID: 28004033Free PMC Article
Espirito Santo LD, Moreira LM, Riegel M
Biomed Res Int 2016;2016:5467083. Epub 2016 Apr 7 doi: 10.1155/2016/5467083. PMID: 27144168Free PMC Article
Myśliwiec M, Panasiuk B, Dębiec-Rychter M, Iwanowski PS, Łebkowska U, Nowakowska B, Marcinkowska A, Stankiewicz P, Midro AT
Am J Med Genet A 2015 Feb;167A(2):445-9. PMID: 25756154
Marignier S, Lesca G, Marguin J, Bussy G, Sanlaville D, des Portes V
Eur J Med Genet 2012 Jun;55(6-7):433-6. Epub 2012 Mar 28 doi: 10.1016/j.ejmg.2012.03.008. PMID: 22510527
Rodríguez-Caballero A, Torres-Lagares D, Yáñez-Vico RM, Gutiérrez-Pérez JL, Machuca-Portillo G
Oral Dis 2012 Mar;18(2):191-7. Epub 2011 Oct 30 doi: 10.1111/j.1601-0825.2011.01864.x. PMID: 22035137

Recent systematic reviews

Corcuera-Flores JR, Casttellanos-Cosano L, Torres-Lagares D, Serrera-Figallo MÁ, Rodríguez-Caballero Á, Machuca-Portillo G
Clin Anat 2016 Jul;29(5):555-60. Epub 2015 Dec 21 doi: 10.1002/ca.22654. PMID: 26457586

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