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Ectrodactyly–ectodermal dysplasia–cleft syndrome

Index Ectrodactyly–ectodermal dysplasia–cleft syndrome

Ectrodactyly–ectodermal dysplasia–cleft syndrome, or EEC, and also referred to as EEC syndrome (also known as "Split hand–split foot–ectodermal dysplasia–cleft syndrome"Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill..) is a rare form of ectodermal dysplasia, an autosomal dominant disorder inherited as an genetic trait. [1]

53 relations: Blood, Bone, Chromosome, Chromosome 19, Cleft lip and cleft palate, Conductive hearing loss, Dentin, Dermis, Dominance (genetics), Ectoderm, Ectodermal dysplasia, Ectrodactyly, Endoderm, Endothelium, Epidermis, Eyelid, Facial cleft, Genetics, Hair, Human skin, Human voice, Hypernasal speech, Hypoplasia, Inner ear, Journal of Medical Genetics, Karyotype, Kidney, Language, Limb–mammary syndrome, List of cutaneous conditions, List of dental abnormalities associated with cutaneous conditions, Lung, Manner of articulation, Mesoderm, Muscle, Nail (anatomy), Nasolacrimal duct, Neoplasm, Nonsense mutation, Phenotypic trait, Phonation, Photophobia, Pituitary gland, Reproduction, Skin, Spinal cord, Stem cell, Subcutaneous tissue, Sweat gland, Tooth, ..., Urinary tract infection, Vesicoureteral reflux, Vocal folds. Expand index (3 more) »

Blood

Blood is a body fluid in humans and other animals that delivers necessary substances such as nutrients and oxygen to the cells and transports metabolic waste products away from those same cells.

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Bone

A bone is a rigid organ that constitutes part of the vertebrate skeleton.

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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 19

Chromosome 19 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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Conductive hearing loss

Conductive hearing loss occurs when there is a problem conducting sound waves anywhere along the route through the outer ear, tympanic membrane (eardrum), or middle ear (ossicles).

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Dentin

Dentin (American English) or dentine (British English) (substantia eburnea) is a calcified tissue of the body and, along with enamel, cementum, and pulp, is one of the four major components of teeth.

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Dermis

The dermis or corium is a layer of skin between the epidermis (with which it makes up the cutis) and subcutaneous tissues, that primarily consists of dense irregular connective tissue and cushions the body from stress and strain.

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Dominance (genetics)

Dominance in genetics is a relationship between alleles of one gene, in which the effect on phenotype of one allele masks the contribution of a second allele at the same locus.

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Ectoderm

Ectoderm is one of the three primary germ layers in the very early embryo.

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Ectodermal dysplasia

Ectodermal dysplasia (ED) is not a single disorder but a group of syndromes all deriving from abnormalities of the ectodermal structures.

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Ectrodactyly

Ectrodactyly, split hand, cleft hand, derived from the Greek ektroma (abortion) and daktylos (finger) involves the deficiency or absence of one or more central digits of the hand or foot and is also known as split hand/split foot malformation (SHFM).

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Endoderm

Endoderm is one of the three primary germ layers in the very early embryo.

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Endothelium

Endothelium refers to cells that line the interior surface of blood vessels and lymphatic vessels, forming an interface between circulating blood or lymph in the lumen and the rest of the vessel wall.

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Epidermis

The epidermis is the outer layer of the three layers that make up the skin, the inner layers being the dermis and hypodermis.

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Eyelid

An eyelid is a thin fold of skin that covers and protects the human eye.

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Facial cleft

A facial cleft is an opening or gap in the face, or a malformation of a part of the face.

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Genetics

Genetics is the study of genes, genetic variation, and heredity in living organisms.

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Hair

Hair is a protein filament that grows from follicles found in the dermis.

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Human skin

The human skin is the outer covering of the body.

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Human voice

The human voice consists of sound made by a human being using the vocal tract, such as talking, singing, laughing, crying, screaming, etc.

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Hypernasal speech

Hypernasal speech (also hyperrhinolalia or open nasality; medically known as Rhinolalia aperta from Latin rhinolalia: "nasal speech" and aperta: "open") is a disorder that causes abnormal resonance in a human's voice due to increased airflow through the nose during speech.

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Hypoplasia

Hypoplasia (from Ancient Greek ὑπo- hypo-, "under" + πλάσις plasis, "formation"; adjective form hypoplastic) is underdevelopment or incomplete development of a tissue or organ.

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Inner ear

The inner ear (internal ear, auris interna) is the innermost part of the vertebrate ear.

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Journal of Medical Genetics

The Journal of Medical Genetics is a peer-reviewed medical journal focusing on human genetics.

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Karyotype

A karyotype is the number and appearance of chromosomes in the nucleus of a eukaryotic cell.

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Kidney

The kidneys are two bean-shaped organs present in left and right sides of the body in vertebrates.

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Language

Language is a system that consists of the development, acquisition, maintenance and use of complex systems of communication, particularly the human ability to do so; and a language is any specific example of such a system.

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Limb–mammary syndrome

Limb–mammary syndrome is a cutaneous condition characterized by p63 mutations.

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List of cutaneous conditions

Many conditions affect the human integumentary system—the organ system covering the entire surface of the body and composed of skin, hair, nails, and related muscle and glands.

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List of dental abnormalities associated with cutaneous conditions

Many conditions of or affecting the human integumentary system have associated abnormalities of the teeth.

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Lung

The lungs are the primary organs of the respiratory system in humans and many other animals including a few fish and some snails.

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Manner of articulation

In articulatory phonetics, the manner of articulation is the configuration and interaction of the articulators (speech organs such as the tongue, lips, and palate) when making a speech sound.

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Mesoderm

In all bilaterian animals, the mesoderm is one of the three primary germ layers in the very early embryo.

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Muscle

Muscle is a soft tissue found in most animals.

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Nail (anatomy)

A nail is a horn-like envelope covering the tips of the fingers and toes in most primates and a few other mammals.

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Nasolacrimal duct

The nasolacrimal duct (sometimes called the tear duct) carries tears from the lacrimal sac of the eye into the nasal cavity.

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Neoplasm

Neoplasia is a type of abnormal and excessive growth of tissue.

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Nonsense mutation

In genetics, a point-nonsense mutation is a point mutation in a sequence of DNA that results in a premature stop codon, or a point-nonsense codon in the transcribed mRNA, and in a truncated, incomplete, and usually nonfunctional protein product.

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Phenotypic trait

A phenotypic trait, or simply trait, is a distinct variant of a phenotypic characteristic of an organism; it may be either inherited or determined environmentally, but typically occurs as a combination of the two.

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Phonation

The term phonation has slightly different meanings depending on the subfield of phonetics.

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Photophobia

Photophobia is a symptom of abnormal intolerance to visual perception of light.

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Pituitary gland

An explanation of the development of the pituitary gland (Hypophysis cerebri) & the congenital anomalies. In vertebrate anatomy, the pituitary gland, or hypophysis, is an endocrine gland about the size of a pea and weighing in humans.

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Reproduction

Reproduction (or procreation or breeding) is the biological process by which new individual organisms – "offspring" – are produced from their "parents".

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Skin

Skin is the soft outer tissue covering vertebrates.

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Spinal cord

The spinal cord is a long, thin, tubular bundle of nervous tissue and support cells that extends from the medulla oblongata in the brainstem to the lumbar region of the vertebral column.

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Stem cell

Stem cells are biological cells that can differentiate into other types of cells and can divide to produce more of the same type of stem cells.

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Subcutaneous tissue

The subcutaneous tissue, also called the hypodermis, hypoderm, subcutis, or superficial fascia, is the lowermost layer of the integumentary system in vertebrates.

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Sweat gland

Sweat glands, also known as sudoriferous or sudoriparous glands,, are small tubular structures of the skin that produce sweat.

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Tooth

A tooth (plural teeth) is a hard, calcified structure found in the jaws (or mouths) of many vertebrates and used to break down food.

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Urinary tract infection

A urinary tract infection (UTI) is an infection that affects part of the urinary tract.

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Vesicoureteral reflux

Vesicoureteral reflux (VUR), also known as vesicoureteric reflux, is a condition in which urine flows retrograde, or backward, from the bladder into the ureters/kidneys.

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Vocal folds

The vocal folds, also known commonly as vocal cords or voice reeds, are composed of twin infoldings of mucous membrane stretched horizontally, from back to front, across the larynx.

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Redirects here:

EEC syndrome, Ectrodactyly - ectodermal dysplasia - cleft syndrome, Ectrodactyly – ectodermal dysplasia – cleft syndrome, Ectrodactyly-Ectodermal Dysplasia-Cleft Syndrome, Ectrodactyly-ectodermal dysplasia-cleft syndrome, Ectrodactyly-ectodermal dysplasias-cleft lip/palate syndrome, Eec syndrome, Eec syndrome without cleft lip palate, Split hand-split foot-ectodermal dysplasia-cleft syndrome, Split hand–split foot–ectodermal dysplasia–cleft syndrome.

References

[1] https://en.wikipedia.org/wiki/Ectrodactyly–ectodermal_dysplasia–cleft_syndrome

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