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Cri du chat syndrome

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Cri du chat syndrome, also known as chromosome 5p deletion syndrome, 5p− syndrome (pronounced "five P minus") or Lejeune's syndrome, is a rare genetic disorder due to chromosome deletion on chromosome 5. [1]

74 relations: Accessory auricle, Amniotic fluid, Atrial septal defect, Bicornuate uterus, Brachydactyly, Cat communication, Chorionic villus sampling, Chromosomal translocation, Chromosome, Chromosome 5, Cleft lip and cleft palate, Clinodactyly, Clubfoot, Crying, Cryptorchidism, Delta catenin, Dermatoglyphics, Drooling, Dysphagia, Dysplasia, Epicanthic fold, Flat feet, French language, Genetic counseling, Genetic disorder, Genetic testing, Hip dislocation, Horseshoe kidney, Hydronephrosis, Hypermobility (joints), Hypertelorism, Hypospadias, Hypotonia, Infertility, Inguinal hernia, Intestinal malrotation, Jérôme Lejeune, Larynx, Little finger, Locus (genetics), Low birth weight, Low-set ears, Malocclusion, Medical genetics, Medscape, Megacolon, Meow, Microcephaly, Micrognathism, Monosomy, ..., Mosaic (genetics), Mutation, Nasal bridge, Nervous system, Palpebral fissure, Patent ductus arteriosus, Preauricular sinus and cyst, Renal agenesis, Renal ectopia, Scoliosis, Secondary sex characteristic, Semaphorin, Single transverse palmar crease, Skin tag, Speech-language pathology, Spermatogenesis, Strabismus, Supraorbital ridge, Syndactyly, Telomerase reverse transcriptase, Tetralogy of Fallot, Thymus, Trisomy, Ventricular septal defect. Expand index (24 more) »

Accessory auricle

An accessory auricle is considered a developmental anomaly resulting from the persistence of a structure which variably recapitulates the normal external ear.

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Amniotic fluid

The amniotic fluid is the protective liquid contained by the amniotic sac of a gravid Amniote.

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Atrial septal defect

Atrial septal defect (ASD) is a heart defect in which blood flows between the atria (upper chambers) of the heart.

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Bicornuate uterus

A bicornuate uterus or bicornate uterus (from the Latin cornū, meaning "horn"), commonly referred to as a "heart-shaped" uterus, is a uterus composed of two "horns" separated by a septum.

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Brachydactyly

Brachydactyly (Greek βραχύς.

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Cat communication

Cat communication is the transfer of information by one or more cats that has an effect on the current or future behaviour of another animal, including humans.

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Chorionic villus sampling

Chorionic villus sampling (CVS), sometimes called "chorionic villous sampling" (as "villous" is the adjectival form of the word "villus"), is a form of prenatal diagnosis to determine chromosomal or genetic disorders in the fetus.

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Chromosomal translocation

In genetics, a chromosome translocation is a chromosome abnormality caused by rearrangement of parts between nonhomologous chromosomes.

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Chromosome

A chromosome (from Ancient Greek: χρωμόσωμα, chromosoma, chroma means colour, soma means body) is a DNA molecule with part or all of the genetic material (genome) of an organism.

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Chromosome 5

Chromosome 5 is one of the 23 pairs of chromosomes in humans.

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Cleft lip and cleft palate

Cleft lip and cleft palate, also known as orofacial cleft, is a group of conditions that includes cleft lip (CL), cleft palate (CP), and both together (CLP).

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Clinodactyly

Clinodactyly (from the Ancient Greek κλίνειν klínein meaning "to bend" and δάκτυλος dáktulos meaning "digit") is a medical term describing the curvature of a digit (a finger or toe) in the plane of the palm, most commonly the fifth finger (the "little finger") towards the adjacent fourth finger (the "ring finger").

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Clubfoot

Clubfoot is a birth defect where one or both feet are rotated inwards and downwards.

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Crying

Crying is the shedding of tears (or welling of tears in the eyes) in response to an emotional state, pain or a physical irritation of the eye.

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Cryptorchidism

Cryptorchidism is the absence of one or both testes from the scrotum.

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Delta catenin

Delta-1-catenin and Delta-2-catenin are members of a subfamily of proteins with ten Armadillo-repeats.

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Dermatoglyphics

Dermatoglyphics (from Ancient Greek derma, "skin", and glyph, "carving") is the scientific study of fingerprints, lines, mounts and shapes of hands.

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Drooling

Drooling, or slobbering, is the flow of saliva outside the mouth.

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Dysphagia

Dysphagia is the medical term for the symptom of difficulty in swallowing.

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Dysplasia

Dysplasia (from Ancient Greek δυσ- dys-, "bad" or "difficult" and πλάσις plasis, "formation") is a term used in pathology to refer to an abnormality of development or an epithelial anomaly of growth and differentiation (epithelial dysplasia).

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Epicanthic fold

The epicanthic fold is the skin fold of the upper eyelid, covering the inner corner (medial canthus) of the eye.

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Flat feet

Flat feet (also called pes planus or fallen arches) is a postural deformity in which the arches of the foot collapse, with the entire sole of the foot coming into complete or near-complete contact with the ground.

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French language

French (le français or la langue française) is a Romance language of the Indo-European family.

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Genetic counseling

Genetic counseling is the process by which the patients or relatives at risk of an inherited disorder (or may be carrying a child at risk) are advised of the consequences and nature of the disorder, the probability of developing or transmitting it, and the options open to them in management and family planning.

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Genetic disorder

A genetic disorder is a genetic problem caused by one or more abnormalities in the genome.

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Genetic testing

Genetic testing, also known as DNA testing, allows the determination of bloodlines and the genetic diagnosis of vulnerabilities to inherited diseases.

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Hip dislocation

A hip dislocation a disruption of the joint between the femur and pelvis.

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Horseshoe kidney

Horseshoe kidney, also known as ren arcuatus (in Latin), renal fusion or super kidney, is a congenital disorder affecting about 1 in 600 people, more common in men.

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Hydronephrosis

Hydronephrosis describes urine-filled dilation of the renal pelvis and/or calyces as a result of obstruction.

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Hypermobility (joints)

Hypermobility, also known as double-jointedness, describes joints that stretch farther than normal.

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Hypertelorism

Hypertelorism is an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance between the orbits (eyes), or orbital hypertelorism.

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Hypospadias

Hypospadias is a congenital disorder of the urethra where the urinary opening is not at the usual location on the head of the penis.

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Hypotonia

Hypotonia, commonly known as floppy baby syndrome, is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength.

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Infertility

Infertility is the inability of a person, animal or plant to reproduce by natural means.

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Inguinal hernia

An inguinal hernia is a protrusion of abdominal-cavity contents through the inguinal canal.

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Intestinal malrotation

Intestinal malrotation is a congenital anomaly of rotation of the midgut (embryologically, the gut undergoes a complex rotation outside the abdomen).

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Jérôme Lejeune

Servant of God Jérôme Jean Louis Marie Lejeune (13 June 1926 – 3 April 1994) was a French pediatrician and geneticist, best known for discovering the link of diseases to chromosome abnormalities and for his subsequent opposition to prenatal diagnosis and abortion.

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Larynx

The larynx, commonly called the voice box, is an organ in the top of the neck of tetrapods involved in breathing, producing sound, and protecting the trachea against food aspiration.

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Little finger

The little finger or pinky finger, also known as the fourth digit or just pinky, is the most ulnar and smallest finger of the human hand, opposite the thumb, and next to the ring finger.

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Locus (genetics)

A locus (plural loci) in genetics is a fixed position on a chromosome, like the position of a gene or a marker (genetic marker).

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Low birth weight

Low birth weight (LBW) is defined by the World Health Organization as a birth weight of a infant of 2,499 g or less, regardless of gestational age.

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Low-set ears

Low-set ears are ears with depressed positioning of the pinnae two or more standard deviations below the population average.

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Malocclusion

A malocclusion is a misalignment or incorrect relation between the teeth of the two dental arches when they approach each other as the jaws close.

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Medical genetics

Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders.

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Medscape

Medscape is a website providing access to medical information for clinicians; the organization also provides continuing education for physicians and health professionals.

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Megacolon

Megacolon is an abnormal dilation of the colon (also called the large intestine).

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Meow

A meow (American English) or miaow (British English), is a vocalization of cats.

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Microcephaly

Microcephaly is a medical condition in which the brain does not develop properly resulting in a smaller than normal head.

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Micrognathism

Micrognathism, also called micrognathia, strawberry chin, hypognathia or hypogthathism, is a condition where the jaw is undersized.

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Monosomy

Monosomy is a form of aneuploidy with the presence of only one chromosome from a pair.

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Mosaic (genetics)

In genetics, a mosaic, or mosaicism, involves the presence of two or more populations of cells with different genotypes in one individual, who has developed from a single fertilized egg.

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Mutation

In biology, a mutation is the permanent alteration of the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA or other genetic elements.

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Nasal bridge

The nasal bridge is the upper, bony part of the human nose, which overlies the nasal bones.

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Nervous system

The nervous system is the part of an animal that coordinates its actions by transmitting signals to and from different parts of its body.

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Palpebral fissure

The palpebral fissure is the elliptic space between the medial and lateral canthi of the two open lids.

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Patent ductus arteriosus

Patent ductus arteriosus (PDA) is a condition wherein the ductus arteriosus fails to close after birth.

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Preauricular sinus and cyst

A preauricular sinus (also known as a congenital auricular fistula, a congenital preauricular fistula, a Geswein hole, an ear pit,Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill.. or a preauricular cyst) is a common congenital malformation characterized by a nodule, dent or dimple located anywhere adjacent to the external ear.

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Renal agenesis

Renal agenesis is a medical condition in which one (unilateral) or both (bilateral) fetal kidneys fail to develop.

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Renal ectopia

Renal ectopia or ectopic kidney describes a kidney that is not located in its usual position.

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Scoliosis

Scoliosis is a medical condition in which a person's spine has a sideways curve.

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Secondary sex characteristic

Secondary sex characteristics are features that appear during puberty in humans, and at sexual maturity in other animals.

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Semaphorin

Semaphorins are a class of secreted and membrane proteins that were originally identified as axonal growth cone guidance molecules.

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Single transverse palmar crease

In humans, a single transverse palmar crease is a single crease that extends across the palm of the hand, formed by the fusion of the two palmar creases (known in palmistry as the "heart line" and the "head line") and is found in people with Down Syndrome.

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Skin tag

A skin tag, or acrochordon (pl. acrochorda), is a small benign tumor that forms primarily in areas where the skin forms creases, such as the neck, armpit and groin.

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Speech-language pathology

Speech-language pathology is a field of expertise practiced by a clinician known as a speech-language pathologist (SLP), also sometimes referred to as a speech and language therapist or a speech therapist. SLP is considered a "related health profession" along with audiology, optometry, occupational therapy, clinical psychology, physical therapy, and others.

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Spermatogenesis

Spermatogenesis is the process by which haploid spermatozoa develop from germ cells in the seminiferous tubules of the testis.

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Strabismus

Strabismus, also known as crossed eyes, is a condition in which the eyes do not properly align with each other when looking at an object.

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Supraorbital ridge

The supraorbital ridge or brow ridge, known as superciliary arches in medicine, refers to a bony ridge located above the eye sockets of all primates.

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Syndactyly

Syndactyly (from Greek συν- meaning "together" and δακτυλος meaning "finger") is a condition wherein two or more digits are fused together.

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Telomerase reverse transcriptase

Telomerase reverse transcriptase (abbreviated to TERT, or hTERT in humans) is a catalytic subunit of the enzyme telomerase, which, together with the telomerase RNA component (TERC), comprises the most important unit of the telomerase complex.

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Tetralogy of Fallot

Tetralogy of Fallot (TOF) is a type of heart defect present at birth.

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Thymus

The thymus is a specialized primary lymphoid organ of the immune system.

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Trisomy

A trisomy is a type of polysomy in which there are three instances of a particular chromosome, instead of the normal two.

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Ventricular septal defect

A ventricular septal defect (VSD) is a defect in the ventricular septum, the wall dividing the left and right ventricles of the heart.

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Redirects here:

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References

[1] https://en.wikipedia.org/wiki/Cri_du_chat_syndrome

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