| Eponyms in category: Mental deficiency - retardation and deterioration |
| 229
main and alternative
entries found.
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| Abt-Larsson-Sjögren syndrome (Karl Gustaf Torsten Sjögren) (Sjögren-Larsson syndrome (Karl Gustaf Torsten Sjögren)) |
| A form of severe mental deficiency (idiocy or imbecility) endemic in Sweden. No patients reported with low or normal intelligence. |
| Accelerated skeletal maturation, Marshall Smith type (Marshall-Smith syndrome) |
| A syndrome of motor and mental retardation, accelerated skeletal maturation, failure to thrive, and abnormal facies. |
| Adson's syndrome (Tay-Sachs disease) |
| A genetic disorder characterized by mental and motor deterioration and death within third year of life. |
| Alè-Calò syndrome (Langer-Giedion syndrome) |
| Syndrome characterized by a combination of mental retardation and a long list of physical abnormalities, including multiple extoses, peculiar facies, and loose redundant skin. |
| Alzheimer's dementia (Alzheimer's disease) |
| The most common cause of presenile dementia, Alzheimer’s disease is a chronic, progressive organic, mental disease due to atrophy of the frontal and occipital lobes. |
| Alzheimer's disease |
| The most common cause of presenile dementia, Alzheimer’s disease is a chronic, progressive organic, mental disease due to atrophy of the frontal and occipital lobes. |
| Alzheimer's sclerosis (Alzheimer's disease) |
| The most common cause of presenile dementia, Alzheimer’s disease is a chronic, progressive organic, mental disease due to atrophy of the frontal and occipital lobes. |
| Alzheimer's syndrome (Alzheimer's disease) |
| The most common cause of presenile dementia, Alzheimer’s disease is a chronic, progressive organic, mental disease due to atrophy of the frontal and occipital lobes. |
| Alzheimer-Perusini disease (misnomer) (Alzheimer's disease) |
| The most common cause of presenile dementia, Alzheimer’s disease is a chronic, progressive organic, mental disease due to atrophy of the frontal and occipital lobes. |
| Andermann's syndrome |
| A familial syndrome affecting both sexes, characterized by agenesis of the corpus callosum, mental retardation, and progressive sensimotor neuropathy. |
| Angelman's syndrome |
| A chromosome 15 disorder comprising microcephaly with mental retardation, epilepsy, ataxic gait or complete inability to walk, muscle hypotonia, EEG abnormalities, and peculiar facies marked by a protruding jaw and tongue, etc.
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| Asboe=Hansen's disease (Bruno Bloch) (Bloch-Sulzberger pigment dermatosis (Bruno Bloch)) |
| A complex congenital disturbance characterized by bizarre, widespread pigmented macules of unusual shapes and defects of teeth, eyes, nails, central nervous system and hair. |
| Aschoff's nodules (Aschoff-Geipel bodies) |
| Granuloma in the myocardium specific for rheumatic fever. |
| Aschoff-Fraenkel-Fahr bodies (Aschoff-Geipel bodies) |
| Granuloma in the myocardium specific for rheumatic fever. |
| Aschoff-Geipel bodies |
| Granuloma in the myocardium specific for rheumatic fever. |
| Aschoff-Geipel nodules (Aschoff-Geipel bodies) |
| Granuloma in the myocardium specific for rheumatic fever. |
| Aschoff-Talalaev bodies (Aschoff-Geipel bodies) |
| Granuloma in the myocardium specific for rheumatic fever. |
| Aschoff’s bodies (Aschoff-Geipel bodies) |
| Granuloma in the myocardium specific for rheumatic fever. |
| Aselli's glands |
| The lymph nodes near the pancreas.
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| Atkin-Flaitz-Patil syndrome (Atkin-Flaitz-syndrome) |
| An X-linked mental retardation syndrome associated with coarse facies. |
| Atkin-Flaitz-Patil-Smith syndrome (Atkin-Flaitz-syndrome) |
| An X-linked mental retardation syndrome associated with coarse facies. |
| Atkin-Flaitz-syndrome |
| An X-linked mental retardation syndrome associated with coarse facies. |
| Barr-Shaver-Carr syndrome |
| A chromosome XXXX syndrome with mental deficiency and variable abnormalities. |
| Bartter-Schwartz syndrome (Schwarts-Bartter syndrome (William Benjamin Schwartz)) |
| A syndrome of inappropriate secretion of antidiuretic hormone causing headache, confusion, disorientation, hostility and other mental aberrations without motor or sensory defects. |
| Batten disease (Stengel's syndrome) |
| Juvenile amaurotic familial idiocy. |
| Batten's syndrome (Curschmann-Batten-Steinert syndrome) |
| Rare hereditary familial disease characterized by progressive muscular wasting, myotonia, cataracts, hypogonadism, and mental deterioration. |
| Batten-Gibb syndrome (Curschmann-Batten-Steinert syndrome) |
| Rare hereditary familial disease characterized by progressive muscular wasting, myotonia, cataracts, hypogonadism, and mental deterioration. |
| Batten-Kufs syndrome (Kufs' disease) |
| A form of sphingolipidosis with onset of symptoms in adolescence. |
| Batten-Mayou disease (Stengel's syndrome) |
| Juvenile amaurotic familial idiocy. |
| Batten-Spielmeyer-Vogt disease (Stengel's syndrome) |
| Juvenile amaurotic familial idiocy. |
| Batten-Steinert syndrome (Curschmann-Batten-Steinert syndrome) |
| Rare hereditary familial disease characterized by progressive muscular wasting, myotonia, cataracts, hypogonadism, and mental deterioration. |
| Batten’s disease (Curschmann-Batten-Steinert syndrome) |
| Rare hereditary familial disease characterized by progressive muscular wasting, myotonia, cataracts, hypogonadism, and mental deterioration. |
| Beare's syndrome |
| A syndrome characterized by pili torti, fragile nails, and mental redtardation. |
| Bernheimer-Seitelberger syndrome (Bielschowsky's amaurotic idiocy) |
| The infantile form of amaurotic family idiocy. |
| Bielschowsky's amaurotic idiocy |
| The infantile form of amaurotic family idiocy. |
| Bloch-Siemens syndrome (Bruno Bloch) (Bloch-Sulzberger pigment dermatosis (Bruno Bloch)) |
| A complex congenital disturbance characterized by bizarre, widespread pigmented macules of unusual shapes and defects of teeth, eyes, nails, central nervous system and hair. |
| Bloch-Sulzberger disease (Bruno Bloch) (Bloch-Sulzberger pigment dermatosis (Bruno Bloch)) |
| A complex congenital disturbance characterized by bizarre, widespread pigmented macules of unusual shapes and defects of teeth, eyes, nails, central nervous system and hair. |
| Bloch-Sulzberger melanoblastosis (Bruno Bloch) (Bloch-Sulzberger pigment dermatosis (Bruno Bloch)) |
| A complex congenital disturbance characterized by bizarre, widespread pigmented macules of unusual shapes and defects of teeth, eyes, nails, central nervous system and hair. |
| Bloch-Sulzberger pigment dermatosis (Bruno Bloch) |
| A complex congenital disturbance characterized by bizarre, widespread pigmented macules of unusual shapes and defects of teeth, eyes, nails, central nervous system and hair. |
| Bourneville's disease (Bourneville-Pringle disease) |
| A syndrome of epilepsy, severe mental retardation associated with adenoma sebaceum of the face, cerebral cortical tubers and hamartomatous tumours of the heart and kidney. |
| Bourneville's syndrome |
| Adenoma sebaceum, tuberous sclerosis, mental deficiency, and convulsions, without the subungual and periungual warty fibromas of Bourneville-Pringle.
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| Bourneville's syndrome (Bourneville-Pringle disease) |
| A syndrome of epilepsy, severe mental retardation associated with adenoma sebaceum of the face, cerebral cortical tubers and hamartomatous tumours of the heart and kidney. |
| Bourneville-Brissaud disease (Bourneville-Pringle disease) |
| A syndrome of epilepsy, severe mental retardation associated with adenoma sebaceum of the face, cerebral cortical tubers and hamartomatous tumours of the heart and kidney. |
| Bourneville-Pringle disease |
| A syndrome of epilepsy, severe mental retardation associated with adenoma sebaceum of the face, cerebral cortical tubers and hamartomatous tumours of the heart and kidney. |
| Bourneville–Pringle disease (Bourneville-Pringle disease) |
| A syndrome of epilepsy, severe mental retardation associated with adenoma sebaceum of the face, cerebral cortical tubers and hamartomatous tumours of the heart and kidney. |
| Brachmann-Cornelia de Lange syndrome (Brachmann-de Lange syndrome) |
| Amstelodamensis typus degenerativus, Amsterdam degeneration type Lange, Amsterdam dwarf, congenital (embryological) malformation syndrome, typus degenerativus Amstelodamensis.
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| Brachmann-de Lange syndrome |
| Amstelodamensis typus degenerativus, Amsterdam degeneration type Lange, Amsterdam dwarf, congenital (embryological) malformation syndrome, typus degenerativus Amstelodamensis.
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| Brissaud's infantilism |
| Hypophyseal dwarfism. |
| Brissaud-Meige syndrome (Brissaud's infantilism) |
| Hypophyseal dwarfism. |
| Brissaud’s syndrome (Brissaud's infantilism) |
| Hypophyseal dwarfism. |
| Bruck-de Lange disease |
| A congenital syndrome of muscular hypertrophy, extrapyramidal disorders, and mental deficiency. |
| Bruck-de lange syndrome (Bruck-de Lange disease) |
| A congenital syndrome of muscular hypertrophy, extrapyramidal disorders, and mental deficiency. |
| Canavan's disease |
| A progressive, degenerative disorder of the central nervous system characterised by spongy changes in the white matter. |
| Canavan's syndrome (Canavan's disease) |
| A progressive, degenerative disorder of the central nervous system characterised by spongy changes in the white matter. |
| Canavan-van Bogaert-Bertrand syndrome (Canavan's disease) |
| A progressive, degenerative disorder of the central nervous system characterised by spongy changes in the white matter. |
| Canavan’s sclerosis (Canavan's disease) |
| A progressive, degenerative disorder of the central nervous system characterised by spongy changes in the white matter. |
| Carr-Barr-Plunkett syndrome |
| A chromosome XXXX syndrome with mental deficiency and variable abnormalities. |
| Cervenka’s syndrome (Pepper's syndrome) |
| An inherited disorder characterized by craniofacial anomalies, skeletal abnormalities, obesity, mental retardation, and myotonia; without short stature or hypogonadism. |
| Charlevoix disease (Andermann's syndrome) |
| A familial syndrome affecting both sexes, characterized by agenesis of the corpus callosum, mental retardation, and progressive sensimotor neuropathy. |
| Christian's brachydactyly syndrome |
| A familial syndrome of mental retardation, brachydactyly, short thumbs and hallux varus with varism. |
| Cockayne's syndrome |
| Symptom complex with long list of clinical features, including dwarfism with disproportionately long extremities and large hands and feet, kyphosis, cold blue extremities, beak-like nose, and mental retardation. |
| Cohen's syndrome (Pepper's syndrome) |
| An inherited disorder characterized by craniofacial anomalies, skeletal abnormalities, obesity, mental retardation, and myotonia; without short stature or hypogonadism. |
| Cornelia de Lange's syndrome (Brachmann-de Lange syndrome) |
| Amstelodamensis typus degenerativus, Amsterdam degeneration type Lange, Amsterdam dwarf, congenital (embryological) malformation syndrome, typus degenerativus Amstelodamensis.
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| Cornelia de Lange’s syndrome II (Bruck-de Lange disease) |
| A congenital syndrome of muscular hypertrophy, extrapyramidal disorders, and mental deficiency. |
| Curschmann-Batten syndrome (Curschmann-Batten-Steinert Syndrome) |
| Rare hereditary familial disease characterized by progressive muscular wasting, myotonia, cataracts, hypogonadism, and mental deterioration. |
| Curschmann-Batten syndrome (Curschmann-Batten-Steinert syndrome) |
| Rare hereditary familial disease characterized by progressive muscular wasting, myotonia, cataracts, hypogonadism, and mental deterioration. |
| Curschmann-Batten-Steinert syndrome |
| Rare hereditary familial disease characterized by progressive muscular wasting, myotonia, cataracts, hypogonadism, and mental deterioration. |
| Curschmann-Batten-Steinert Syndrome |
| Rare hereditary familial disease characterized by progressive muscular wasting, myotonia, cataracts, hypogonadism, and mental deterioration. |
| Curschmann-Steinert syndrome (Curschmann-Batten-Steinert Syndrome) |
| Rare hereditary familial disease characterized by progressive muscular wasting, myotonia, cataracts, hypogonadism, and mental deterioration. |
| Curschmann-Steinert syndrome (Curschmann-Batten-Steinert syndrome) |
| Rare hereditary familial disease characterized by progressive muscular wasting, myotonia, cataracts, hypogonadism, and mental deterioration. |
| Curschmann-Steinert-Batten disease (Curschmann-Batten-Steinert Syndrome) |
| Rare hereditary familial disease characterized by progressive muscular wasting, myotonia, cataracts, hypogonadism, and mental deterioration. |
| Curschmann-Steinert-Batten disease (Curschmann-Batten-Steinert syndrome) |
| Rare hereditary familial disease characterized by progressive muscular wasting, myotonia, cataracts, hypogonadism, and mental deterioration. |
| de Lange's disease (Bruck-de Lange disease) |
| A congenital syndrome of muscular hypertrophy, extrapyramidal disorders, and mental deficiency. |
| de Lange’s syndrome (Brachmann-de Lange syndrome) |
| Amstelodamensis typus degenerativus, Amsterdam degeneration type Lange, Amsterdam dwarf, congenital (embryological) malformation syndrome, typus degenerativus Amstelodamensis.
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| de Morsier’s syndrome II (Kallmann's syndrome) |
| A congenital disorder of hypothalamic function and reduced pituitary gonadotropic activity with resulting association of hypogonadism, eunuchoidism and anosmia. |
| Dejerine-Mouzon syndrome |
| French only: Syndrome rare, parfois observé du côte opposé, en cas de lésion de la circonvolution pariétale ascendante. |
| Dementia of the Alzheimer type (Alzheimer's disease) |
| The most common cause of presenile dementia, Alzheimer’s disease is a chronic, progressive organic, mental disease due to atrophy of the frontal and occipital lobes. |
| Desbuquois' syndrome |
| Also known as Desbuquois-Grenier-Michel syndrome. A familial syndrome with a wide clinical spectrum characterised by peculiar skeletal changes, overstretchable joints and facial changes. |
| Desbuquois-Grenier-Michel syndrome (Desbuquois' syndrome) |
| Also known as Desbuquois-Grenier-Michel syndrome. A familial syndrome with a wide clinical spectrum characterised by peculiar skeletal changes, overstretchable joints and facial changes. |
| Dimitri’s hemangiomatosis syndrome (Sturge-Weber syndrome) |
| A congenital disorder involving the brain, skin and eyes. |
| Dollinger-Bielschowsky syndrome (Bielschowsky's amaurotic idiocy) |
| The infantile form of amaurotic family idiocy. |
| Down's syndrome |
| Mental retardation due to trisomy of chromosome 21, associated with characteristic facies and habitus.
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| Dyggve-Melchior-Clausen dwarfism (Dyggve-Melchior-Clausen syndrome) |
| A familial skeletal disorder characterised by short trunk dwarfism, exaggerated lordosis, protrusion of the sternum, flattened vertebral bodies, small hands and feet, clawed fingers and mental retardation. |
| Dyggve-Melchior-Clausen syndrome |
| A familial skeletal disorder characterised by short trunk dwarfism, exaggerated lordosis, protrusion of the sternum, flattened vertebral bodies, small hands and feet, clawed fingers and mental retardation. |
| Dyggve’s syndrome (Dyggve-Melchior-Clausen syndrome) |
| A familial skeletal disorder characterised by short trunk dwarfism, exaggerated lordosis, protrusion of the sternum, flattened vertebral bodies, small hands and feet, clawed fingers and mental retardation. |
| Escalante's syndrome (Martin-Bell syndrome) |
| A syndrome comprising X-linked mental retardation in children with macroorchidism, prognathism, hypotonia and autism, and a characteristic but variable facies. |
| Fahr's disease |
| A rare idiopathic disease which manifests in middle age characterized by punctate areas of non-arteriosclerotic calcination in parts of the gray and dentate nuclei, particularly of smaller brain vessels. |
| Fahr’s intracerebral calcinosis (Fahr's disease) |
| A rare idiopathic disease which manifests in middle age characterized by punctate areas of non-arteriosclerotic calcination in parts of the gray and dentate nuclei, particularly of smaller brain vessels. |
| Fahr’s syndrome (Fahr's disease) |
| A rare idiopathic disease which manifests in middle age characterized by punctate areas of non-arteriosclerotic calcination in parts of the gray and dentate nuclei, particularly of smaller brain vessels. |
| Fanconi-Turler syndrome |
| A syndrome marked by cerebellar ataxia associated with uncoordinated eye movements, nystagmus, dysmetria, and mental retardation. |
| Feuerstein-Mims syndrome (Schimmelpenning-Feuerstein-Mims syndrome) |
| A congenital syndrome of anomalies affecting multiple body systems, especially the skin, skeleton, eyes, and central nervous system. |
| Franceschetti-Thier syndrome |
| A syndrome of mental retardation, multiple lipoma, and corneal dystrophy. |
| Følling's disease |
| An inborn error of metabolism in which the body lacks the ability to break down the amino acid fenylananin in the blood, causing severe mental deficiency. |
| Følling's syndrome (Følling's disease) |
| An inborn error of metabolism in which the body lacks the ability to break down the amino acid fenylananin in the blood, causing severe mental deficiency. |
| Gilman and Barrett neuroaxonal dystrophy type I (Hallervorden-Spatz syndrome) |
| A very rare disease with degeneration of the globus pallidus, red nucleus, and substantia nigra of the brain. It is characterized by progressive Parkinson-like rigidity, athetotic movements, and progressive mental and emotional retardation. |
| Hallervorden-Spatz disease (Hallervorden-Spatz syndrome) |
| A very rare disease with degeneration of the globus pallidus, red nucleus, and substantia nigra of the brain. It is characterized by progressive Parkinson-like rigidity, athetotic movements, and progressive mental and emotional retardation. |
| Hallervorden-Spatz syndrome |
| A very rare disease with degeneration of the globus pallidus, red nucleus, and substantia nigra of the brain. It is characterized by progressive Parkinson-like rigidity, athetotic movements, and progressive mental and emotional retardation. |
| Hanhart's syndrome (Richner-Hanhart syndrome) |
| A syndrome characterized by keratosis palmaris et plantaris from infancy, with lacrimation, persistent dendritic lesions of the cornea with unaffected corneal sensitivity, photophobia, mental retardation, and self-mutilating behaviour. |
| Happy puppet syndrome (Angelman's syndrome) |
| A chromosome 15 disorder comprising microcephaly with mental retardation, epilepsy, ataxic gait or complete inability to walk, muscle hypotonia, EEG abnormalities, and peculiar facies marked by a protruding jaw and tongue, etc.
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| Herrmann-Opitz syndrome I |
| A severe developmental anomaly with mental retardation, acrocephalosyndactyly and long list of other abnormalities. |
| Herrmann-Pallister syndrome |
| Malformation- and dysmorphy syndrome with the triad of dwarfism, mental retardation and skeletal anomalies. |
| Herrmann-Pallister-Opitz syndrome (Herrmann-Pallister syndrome) |
| Malformation- and dysmorphy syndrome with the triad of dwarfism, mental retardation and skeletal anomalies. |
| Hunter's disease (Hunter's syndrome (Charles A. Hunter)) |
| Rare hereditary disorder characterised by dwarfism, a coarse facies, hepatosplenomegaly, digital contractures and mental retardation and deafness. |
| Hunter's syndrome (Charles A. Hunter) |
| Rare hereditary disorder characterised by dwarfism, a coarse facies, hepatosplenomegaly, digital contractures and mental retardation and deafness. |
| Hunter’s syndrome (Hurler's syndrome) |
| A metabolical disease characterized by dwarfism, hunchback, gargoyle like facies, mental retardation, and a large number of other abnormalities. |
| Hurler's disease (Hurler's syndrome) |
| A metabolical disease characterized by dwarfism, hunchback, gargoyle like facies, mental retardation, and a large number of other abnormalities. |
| Hurler's syndrome |
| A metabolical disease characterized by dwarfism, hunchback, gargoyle like facies, mental retardation, and a large number of other abnormalities. |
| Hurler's variant |
| An inborn error of metabolism with features similar to a mild form of the Hurler syndrome. |
| Hurler-Hunter syndrome (Hurler's syndrome) |
| A metabolical disease characterized by dwarfism, hunchback, gargoyle like facies, mental retardation, and a large number of other abnormalities. |
| Hurler-Pfaundler syndrome (Hurler's syndrome) |
| A metabolical disease characterized by dwarfism, hunchback, gargoyle like facies, mental retardation, and a large number of other abnormalities. |
| Hurler-Scheie syndrome |
| A metabolic syndrome combining symptoms less severe than Hurler’s syndrome, more severe than Scheie’s syndrome. |
| Jadassohn's nevus phakomatosis (Schimmelpenning-Feuerstein-Mims syndrome) |
| A congenital syndrome of anomalies affecting multiple body systems, especially the skin, skeleton, eyes, and central nervous system. |
| Jahnke's syndrome (variant without glaucoma) (Sturge-Weber syndrome) |
| A congenital disorder involving the brain, skin and eyes. |
| Jansky-Bielschowsky disease (Bielschowsky's amaurotic idiocy) |
| The infantile form of amaurotic family idiocy. |
| Jansky-Bielschowsky syndrome (Bielschowsky's amaurotic idiocy) |
| The infantile form of amaurotic family idiocy. |
| Johnie McL disease (Hurler's syndrome) |
| A metabolical disease characterized by dwarfism, hunchback, gargoyle like facies, mental retardation, and a large number of other abnormalities. |
| Kalischer's syndrome (Sturge-Weber syndrome) |
| A congenital disorder involving the brain, skin and eyes. |
| Kallmann's syndrome |
| A congenital disorder of hypothalamic function and reduced pituitary gonadotropic activity with resulting association of hypogonadism, eunuchoidism and anosmia. |
| Kallmann-de Morsier syndrome (Kallmann's syndrome) |
| A congenital disorder of hypothalamic function and reduced pituitary gonadotropic activity with resulting association of hypogonadism, eunuchoidism and anosmia. |
| Kaufman's syndrome II |
| A familial syndrome marked by mental and physical retardation. |
| Kaveggia's syndrome |
| A possibly independent entity of severe mental retardation, spastic disturbances of movements with athetoid cerebral palsy, dwarfism and facial dysmorphies. |
| KBG syndrome (Herrmann-Pallister syndrome) |
| Malformation- and dysmorphy syndrome with the triad of dwarfism, mental retardation and skeletal anomalies. |
| Killian-Pallister syndrome (Wolfgang Killian) (Pallister's mosaicism syndrome) |
| A multiple anomaly/mental retardation syndrome. |
| Killian’s syndrome (Pallister's mosaicism syndrome) |
| A multiple anomaly/mental retardation syndrome. |
| Klingmüller’s syndrome (Langer-Giedion syndrome) |
| Syndrome characterized by a combination of mental retardation and a long list of physical abnormalities, including multiple extoses, peculiar facies, and loose redundant skin. |
| Krabbe's syndrome II (Sturge-Weber syndrome) |
| A congenital disorder involving the brain, skin and eyes. |
| Kufs' disease |
| A form of sphingolipidosis with onset of symptoms in adolescence. |
| Kufs' syndrome (Kufs' disease) |
| A form of sphingolipidosis with onset of symptoms in adolescence. |
| Kufs-Hallervorden disease (Kufs' disease) |
| A form of sphingolipidosis with onset of symptoms in adolescence. |
| Kufs-Mayer disease (Kufs' disease) |
| A form of sphingolipidosis with onset of symptoms in adolescence. |
| Langdon Down disease (Down's syndrome) |
| Mental retardation due to trisomy of chromosome 21, associated with characteristic facies and habitus.
|
| Lange's syndrome II (Bruck-de Lange disease) |
| A congenital syndrome of muscular hypertrophy, extrapyramidal disorders, and mental deficiency. |
| Langer-Giedion syndrome |
| Syndrome characterized by a combination of mental retardation and a long list of physical abnormalities, including multiple extoses, peculiar facies, and loose redundant skin. |
| Larsson’s syndrome (Sjögren-Larsson syndrome (Karl Gustaf Torsten Sjögren)) |
| A form of severe mental deficiency (idiocy or imbecility) endemic in Sweden. No patients reported with low or normal intelligence. |
| Lawford's syndrome (Sturge-Weber syndrome) |
| A congenital disorder involving the brain, skin and eyes. |
| Lawford’s meningocutaneous syndrome (Sturge-Weber syndrome) |
| A congenital disorder involving the brain, skin and eyes. |
| Maestre de San Juan-Kallmann syndrome (Kallmann's syndrome) |
| A congenital disorder of hypothalamic function and reduced pituitary gonadotropic activity with resulting association of hypogonadism, eunuchoidism and anosmia. |
| Maestre de San Juan-Kallmann-de Morsier syndrome (Kallmann's syndrome) |
| A congenital disorder of hypothalamic function and reduced pituitary gonadotropic activity with resulting association of hypogonadism, eunuchoidism and anosmia. |
| Maestre-Kallmann-de Morsier syndrome (Kallmann's syndrome) |
| A congenital disorder of hypothalamic function and reduced pituitary gonadotropic activity with resulting association of hypogonadism, eunuchoidism and anosmia. |
| Maladie de Bourneville (Bourneville-Pringle disease) |
| A syndrome of epilepsy, severe mental retardation associated with adenoma sebaceum of the face, cerebral cortical tubers and hamartomatous tumours of the heart and kidney. |
| Maladie de Mayer-Kufs (French) (Kufs' disease) |
| A form of sphingolipidosis with onset of symptoms in adolescence. |
| Marshall syndrome (Marshall-Smith syndrome) |
| A syndrome of motor and mental retardation, accelerated skeletal maturation, failure to thrive, and abnormal facies. |
| Marshall-Smith syndrome |
| A syndrome of motor and mental retardation, accelerated skeletal maturation, failure to thrive, and abnormal facies. |
| Martin Bell-Renpenning syndrome (Martin-Bell syndrome) |
| A syndrome comprising X-linked mental retardation in children with macroorchidism, prognathism, hypotonia and autism, and a characteristic but variable facies. |
| Martin-Bell syndrome |
| A syndrome comprising X-linked mental retardation in children with macroorchidism, prognathism, hypotonia and autism, and a characteristic but variable facies. |
| Miller's syndrome (Sturge-Weber syndrome) |
| A congenital disorder involving the brain, skin and eyes. |
| Morbus Down (Down's syndrome) |
| Mental retardation due to trisomy of chromosome 21, associated with characteristic facies and habitus.
|
| Morbus Fahr (Fahr's disease) |
| A rare idiopathic disease which manifests in middle age characterized by punctate areas of non-arteriosclerotic calcination in parts of the gray and dentate nuclei, particularly of smaller brain vessels. |
| Morbus Langdon-Down (Down's syndrome) |
| Mental retardation due to trisomy of chromosome 21, associated with characteristic facies and habitus.
|
| Morsier-Gauthier syndrome (Kallmann's syndrome) |
| A congenital disorder of hypothalamic function and reduced pituitary gonadotropic activity with resulting association of hypogonadism, eunuchoidism and anosmia. |
| Neill-Dingwall syndrome (Cockayne's syndrome) |
| Symptom complex with long list of clinical features, including dwarfism with disproportionately long extremities and large hands and feet, kyphosis, cold blue extremities, beak-like nose, and mental retardation. |
| Neuhäuser-Kaveggia syndrome (Kaveggia's syndrome) |
| A possibly independent entity of severe mental retardation, spastic disturbances of movements with athetoid cerebral palsy, dwarfism and facial dysmorphies. |
| Opitz' N syndrome |
| Inheritable malformation-retardation syndrome with impaired hearing, visual disturbances, cryptorchism, hypospadia and tetraspastic. |
| Pallister's mosaicism syndrome |
| A multiple anomaly/mental retardation syndrome. |
| Pallister's syndrome (Pallister's mosaicism syndrome) |
| A multiple anomaly/mental retardation syndrome. |
| Pallister's tetrasomy syndrome (Pallister's mosaicism syndrome) |
| A multiple anomaly/mental retardation syndrome. |
| Pallister-Killian syndrome (Pallister's mosaicism syndrome) |
| A multiple anomaly/mental retardation syndrome. |
| Pallister-Teschler-Nicola and Killian syndrome (Pallister's mosaicism syndrome) |
| A multiple anomaly/mental retardation syndrome. |
| Parkes Weber-Dimitri syndrome (Sturge-Weber syndrome) |
| A congenital disorder involving the brain, skin and eyes. |
| Pepper's syndrome |
| An inherited disorder characterized by craniofacial anomalies, skeletal abnormalities, obesity, mental retardation, and myotonia; without short stature or hypogonadism. |
| Pfaundler-Hurler disease (Hurler's syndrome) |
| A metabolical disease characterized by dwarfism, hunchback, gargoyle like facies, mental retardation, and a large number of other abnormalities. |
| Pfaundler-Hurler syndrome (Hurler's syndrome) |
| A metabolical disease characterized by dwarfism, hunchback, gargoyle like facies, mental retardation, and a large number of other abnormalities. |
| Pringle's adenoma sebaceum (Bourneville-Pringle disease) |
| A syndrome of epilepsy, severe mental retardation associated with adenoma sebaceum of the face, cerebral cortical tubers and hamartomatous tumours of the heart and kidney. |
| Pringle's disease (Bourneville-Pringle disease) |
| A syndrome of epilepsy, severe mental retardation associated with adenoma sebaceum of the face, cerebral cortical tubers and hamartomatous tumours of the heart and kidney. |
| Renpenning's syndrome (Martin-Bell syndrome) |
| A syndrome comprising X-linked mental retardation in children with macroorchidism, prognathism, hypotonia and autism, and a characteristic but variable facies. |
| Richner's syndrome (Richner-Hanhart syndrome) |
| A syndrome characterized by keratosis palmaris et plantaris from infancy, with lacrimation, persistent dendritic lesions of the cornea with unaffected corneal sensitivity, photophobia, mental retardation, and self-mutilating behaviour. |
| Richner-Hanhart syndrome |
| A syndrome characterized by keratosis palmaris et plantaris from infancy, with lacrimation, persistent dendritic lesions of the cornea with unaffected corneal sensitivity, photophobia, mental retardation, and self-mutilating behaviour. |
| Rimoin's syndrome (Rimoin-Mcalister syndrome) |
| A familial syndrome, characterized by short-limbed dwarfism, metaphyseal dysostosis, recurrent ear infections, conductive deafness, and mild mental retardation. |
| Rimoin-Mcalister syndrome |
| A familial syndrome, characterized by short-limbed dwarfism, metaphyseal dysostosis, recurrent ear infections, conductive deafness, and mild mental retardation. |
| Rossolimo-Curschmann-Batten-Steinert myotinic dystrophy (Curschmann-Batten-Steinert Syndrome) |
| Rare hereditary familial disease characterized by progressive muscular wasting, myotonia, cataracts, hypogonadism, and mental deterioration. |
| Rossolimo-Curschmann-Batten-Steinert myotinic dystrophy (Curschmann-Batten-Steinert syndrome) |
| Rare hereditary familial disease characterized by progressive muscular wasting, myotonia, cataracts, hypogonadism, and mental deterioration. |
| Rossolimo-Curschmann-Batten-Steinert syndrome (Curschmann-Batten-Steinert Syndrome) |
| Rare hereditary familial disease characterized by progressive muscular wasting, myotonia, cataracts, hypogonadism, and mental deterioration. |
| Rossolimo-Curschmann-Batten-Steinert syndrome (Curschmann-Batten-Steinert syndrome) |
| Rare hereditary familial disease characterized by progressive muscular wasting, myotonia, cataracts, hypogonadism, and mental deterioration. |
| Rud's syndrome |
| A syndrome characterised by ichtyosis of the skin, usually present from early infancy, psychomotor retardation, epileptic seizures, short stature, retinitis pigmentosa, polyneuropathy, hypogonadism and severe mental retardation. |
| Rud’s syndrome (Sjögren-Larsson syndrome (Karl Gustaf Torsten Sjögren)) |
| A form of severe mental deficiency (idiocy or imbecility) endemic in Sweden. No patients reported with low or normal intelligence. |
| Sachs’ disease (Tay-Sachs disease) |
| A genetic disorder characterized by mental and motor deterioration and death within third year of life. |
| Say-Meyer syndrome |
| A familial syndrome of trigonocephaly, short stature, and retarded psychomotor development. |
| Schimmelpenning-Feuerstein-Mims syndrome |
| A congenital syndrome of anomalies affecting multiple body systems, especially the skin, skeleton, eyes, and central nervous system. |
| Schimmelpenning’s syndrome (Schimmelpenning-Feuerstein-Mims syndrome) |
| A congenital syndrome of anomalies affecting multiple body systems, especially the skin, skeleton, eyes, and central nervous system. |
| Schinzel's acrocallosal syndrome (Schinzel's syndrome I) |
| A syndrome of mental retardation, peculiar facies, absence of the corpus callosum, and polydactyly. |
| Schinzel's syndrome I |
| A syndrome of mental retardation, peculiar facies, absence of the corpus callosum, and polydactyly. |
| Schirmer's syndrome (Sturge-Weber syndrome) |
| A congenital disorder involving the brain, skin and eyes. |
| Schwarts-Bartter syndrome (William Benjamin Schwartz) |
| A syndrome of inappropriate secretion of antidiuretic hormone causing headache, confusion, disorientation, hostility and other mental aberrations without motor or sensory defects. |
| Seitelberger's disease (Bielschowsky's amaurotic idiocy) |
| The infantile form of amaurotic family idiocy. |
| Senile dementia of the Alzheimer type (Alzheimer's disease) |
| The most common cause of presenile dementia, Alzheimer’s disease is a chronic, progressive organic, mental disease due to atrophy of the frontal and occipital lobes. |
| Sheldon-Ellis syndrome (Hurler's syndrome) |
| A metabolical disease characterized by dwarfism, hunchback, gargoyle like facies, mental retardation, and a large number of other abnormalities. |
| Siegert's sign |
| Short and incurving terminal phalanges of the little fingers in Down's syndrome. |
| Siemens-Bloch pigmented dermatosis (Bruno Bloch) (Bloch-Sulzberger pigment dermatosis (Bruno Bloch)) |
| A complex congenital disturbance characterized by bizarre, widespread pigmented macules of unusual shapes and defects of teeth, eyes, nails, central nervous system and hair. |
| Siemens-Bloch-Sulzberger disease (Bruno Bloch) (Bloch-Sulzberger pigment dermatosis (Bruno Bloch)) |
| A complex congenital disturbance characterized by bizarre, widespread pigmented macules of unusual shapes and defects of teeth, eyes, nails, central nervous system and hair. |
| Sjögren-Larsson syndrome (Rud's syndrome) |
| A syndrome characterised by ichtyosis of the skin, usually present from early infancy, psychomotor retardation, epileptic seizures, short stature, retinitis pigmentosa, polyneuropathy, hypogonadism and severe mental retardation. |
| Sjögren-Larsson syndrome (Karl Gustaf Torsten Sjögren) |
| A form of severe mental deficiency (idiocy or imbecility) endemic in Sweden. No patients reported with low or normal intelligence. |
| Small's disease (Small's syndrome) |
| A syndrome characterized by visual impairment and retinal changes ranging from tortuous vessels to exudative retinitis, neural deafness, muscle weakness, and mental retardation. |
| Small's syndrome |
| A syndrome characterized by visual impairment and retinal changes ranging from tortuous vessels to exudative retinitis, neural deafness, muscle weakness, and mental retardation. |
| Smith-Fineman-Myers syndrome (Richard D. Smith) |
| A rare familial dysmorphy syndrome characterised by short stature, psychomotor retardation, and unusual face. |
| Smith-McCort dwarfism (Dyggve-Melchior-Clausen syndrome) |
| A familial skeletal disorder characterised by short trunk dwarfism, exaggerated lordosis, protrusion of the sternum, flattened vertebral bodies, small hands and feet, clawed fingers and mental retardation. |
| Solomon's syndrome (Schimmelpenning-Feuerstein-Mims syndrome) |
| A congenital syndrome of anomalies affecting multiple body systems, especially the skin, skeleton, eyes, and central nervous system. |
| Solomon-Fretzin-Dewald syndrome (Schimmelpenning-Feuerstein-Mims syndrome) |
| A congenital syndrome of anomalies affecting multiple body systems, especially the skin, skeleton, eyes, and central nervous system. |
| Spielmeyer-Sjögren disease (Stengel's syndrome) |
| Juvenile amaurotic familial idiocy. |
| Spielmeyer-Vogt syndrome (Stengel's syndrome) |
| Juvenile amaurotic familial idiocy. |
| Spielmeyer-Vogt-Stock disease (Stengel's syndrome) |
| Juvenile amaurotic familial idiocy. |
| Steinert’s disease (Curschmann-Batten-Steinert Syndrome) |
| Rare hereditary familial disease characterized by progressive muscular wasting, myotonia, cataracts, hypogonadism, and mental deterioration. |
| Steinert’s disease (Curschmann-Batten-Steinert syndrome) |
| Rare hereditary familial disease characterized by progressive muscular wasting, myotonia, cataracts, hypogonadism, and mental deterioration. |
| Steinert’s myotonic dystrophy (Curschmann-Batten-Steinert syndrome) |
| Rare hereditary familial disease characterized by progressive muscular wasting, myotonia, cataracts, hypogonadism, and mental deterioration. |
| Steinert’s myotonic dystrophy (Curschmann-Batten-Steinert Syndrome) |
| Rare hereditary familial disease characterized by progressive muscular wasting, myotonia, cataracts, hypogonadism, and mental deterioration. |
| Stengel's syndrome |
| Juvenile amaurotic familial idiocy. |
| Stock-Spielmeyer disease (Stengel's syndrome) |
| Juvenile amaurotic familial idiocy. |
| Sturge's syndrome (Sturge-Weber syndrome) |
| A congenital disorder involving the brain, skin and eyes. |
| Sturge-Kalischer-Weber syndrome (Sturge-Weber syndrome) |
| A congenital disorder involving the brain, skin and eyes. |
| Sturge-Parkes Weber-Dimitri syndrome (Sturge-Weber syndrome) |
| A congenital disorder involving the brain, skin and eyes. |
| Sturge-Weber syndrome |
| A congenital disorder involving the brain, skin and eyes. |
| Sturge-Weber-Krabbe syndrome (Sturge-Weber syndrome) |
| A congenital disorder involving the brain, skin and eyes. |
| Sturge-Weber-Thoma syndrome (Sturge-Weber syndrome) |
| A congenital disorder involving the brain, skin and eyes. |
| Tay-Sachs disease |
| A genetic disorder characterized by mental and motor deterioration and death within third year of life. |
| Tay-Sachs syndrome (Tay-Sachs disease) |
| A genetic disorder characterized by mental and motor deterioration and death within third year of life. |
| Teschler-Nicola and Killian syndrome (Pallister's mosaicism syndrome) |
| A multiple anomaly/mental retardation syndrome. |
| Teschler-Nicola and Killian-Pallister syndrome (Pallister's mosaicism syndrome) |
| A multiple anomaly/mental retardation syndrome. |
| Teschler-Nicola syndrome (Pallister's mosaicism syndrome) |
| A multiple anomaly/mental retardation syndrome. |
| Teschler-Nicola's syndrome (Pallister's mosaicism syndrome) |
| A multiple anomaly/mental retardation syndrome. |
| Thiébaut's syndrome (Van Bogaert-Scherer-Epstein syndrome) |
| A familial disorder of metabolism. |
| Thompson’s syndrome (Hurler's syndrome) |
| A metabolical disease characterized by dwarfism, hunchback, gargoyle like facies, mental retardation, and a large number of other abnormalities. |
| Touraine's syndrome III |
| A familial, possibly autosomal dominant disorder in which facial freckles are associated with mental retardation. |
| Van Bogaert-Scherer-Epstein syndrome |
| A familial disorder of metabolism. |
| van-Bogaert-Bertrand spongy degeneration syndrome (Canavan's disease) |
| A progressive, degenerative disorder of the central nervous system characterised by spongy changes in the white matter. |
| van-Bogaert-Bertrand syndrome (Canavan's disease) |
| A progressive, degenerative disorder of the central nervous system characterised by spongy changes in the white matter. |
| Watson's syndrome |
| A rare syndrome originally described as comprising pulmonary valvular stenosis, café-au-lait spots, dull intelligence, and short stature. |
| Weber's syndrome (Sturge-Weber syndrome) |
| A congenital disorder involving the brain, skin and eyes. |
| Weber-Dimitri syndrome (Sturge-Weber syndrome) |
| A congenital disorder involving the brain, skin and eyes. |
| Wiedemann-Rautenstrauch syndrome |
| A syndrome characterised by intrauterine growth retardation, low birth weight, failure to thrive, short stature, widely open cranial sutures, a progeria-like appearance, hypotonia, pseudohydrocephalus, lipoatrophy, and mental retardation. |
| Wiedemann-Tolksdorf syndrome |
| A syndrome of mental retardation, delayed speech development, accelerated growth, peculiar sheep-like facies, and deformities of the fingers and toes. |
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