n
craniocerebellocardiac dysplasia: a rare condition whose symptoms include heart defects, cerebellar hypoplasia, and cranial dysmorphism.
n
An inherited disease characterized by short stature, facial abnormalities, and skeletal and genital anomalies.
n
A rare autosomal-recessive genetic disorder characterized by malformations of the skull, skin, fingers and genitals.
n
(teratology) A genetic disorder, the most common form of short limb dwarfism.
n
A familial syndrome characterised by taurodontism, hypotrichosis, full upper lip without a Cupid's bow, thickened and wide philtrum, and occasional juvenile glaucoma.
n
(biology, medicine) A condition with appearance/clinical presentation similar or identical to that of acromegaly, but with distinct pathophysiology.
n
(medicine) A chronic disease marked by enlargement of the bones of the extremities, face, and jaw that is caused by over-activity of the pituitary gland.
n
The autosomally dominant genetic disorder which causes this condition.
n
A rare genetic malformation syndrome characterized by retinal abnormalities, seizures, and partial or complete absence of the corpus callosum.
n
A rare inflammatory genetic disorder typically affecting the brain and skin and causing intellectual and physical problems.
n
A genetic disorder affecting the liver, heart, kidney, and other systems.
n
A form of osteodystrophy, classified as the phenotype of pseudohypoparathyroidism type 1A.
n
A rare brain-development disorder, almost exclusively in males, that causes moderate to severe mental retardation and problems with movement.
n
A progressive degenerative disease of the central nervous system that occurs mostly in infants.
n
Cornelia de Lange syndrome
n
Glycogen storage disease type IV
n
A particular human disease, caused by deletion of part of chromosome 11, and causing aniridia and other problems.
n
A kind of dementia marked by the presence of abundant argyrophilic grains and coiled bodies on microscopic examination of brain tissue.
n
Ramsay Hunt syndrome type 3
n
A rare neurodegenerative inherited disease causing severe disability, characterized by poor coordination and telangiectasia to small dilated blood vessels.
n
Alternative form of ateliosis [(dated, pathology) A form of dwarfism accompanied by a childlike high-pitched voice and abnormal genitalia.]
n
A rare autosomal-dominant disorder affecting the development of the teeth, eyes, and abdominal region.
n
A rare genetic disorder characterized by an abnormally shaped skull, short stature, and aplasia or hypoplasia of the radius bone in the forearm.
n
A ciliopathic human genetic disorder characterized principally by obesity, retinitis pigmentosa, polydactyly, hypogonadism, and renal failure in some cases.
n
A genetic disorder characterized by congenital localized absence of skin, epidermolysis bullosa, lesions of the mouth mucosa, and dystrophic nails.
n
A rare, fatal autosomal-recessive neurodegenerative disorder that begins in childhood.
n
Bazex-Dupré-Christol syndrome
n
benign pseudohypertrophic muscular dystrophy: an X-linked recessive inherited dystrophinopathy characterized by slowly progressive muscle weakness of the legs and pelvis
n
A congenital overgrowth disorder characterized by an increased risk of childhood cancer and certain physical defects.
n
An extremely rare disorder of unknown cause, characterized by short stature, congenital optic atrophy, and brachytelephalangy.
n
(medicine) Initialism of Börjeson–Forssman–Lehmann syndrome. [(medical genetics) A rare genetic disorder that causes intellectual disability, obesity, and growth defects.]
n
A human autosomal-dominant genetic disorder that can cause susceptibility to kidney cancer, renal and pulmonary cysts, and fibrofolliculomas.
n
(medicine, colloquial) Bisphosphonate osteochemonecrosis.
n
A rare genetic disease characterized by stunted growth, predisposition to the development of cancer, and genomic instability.
n
A rare disorder in which abnormal blood vessels affect the gastrointestinal tract, resulting in lesions.
n
A rare medical condition characterized by a vascular malformation extending from the craniofacial to the orbital regions and the brain.
n
A lethal osteochondrodysplasia in which the bones of the arms and legs are congenitally malformed into the shape of a boomerang.
n
A genetic disorder associated with mild intellectual disability, impulsiveness, sudden changes of mood, and aggressive and antisocial behaviours.
n
Initialism of Beckwith-Wiedemann syndrome. [A congenital overgrowth disorder characterized by an increased risk of childhood cancer and certain physical defects.]
n
(medical genetics) A rare genetic disorder that causes intellectual disability, obesity, and growth defects.
n
(medicine) Progressive diaphyseal dysplasia: a very rare autosomal-dominant genetic disorder that causes characteristic skeletal anomalies
n
Synonym of Camurati-Engelmann disease
n
A very rare autosomal recessive congenital disorder characterized by craniofacial malformations, obesity, and syndactyly.
n
A rare genetic disorder whose symptoms include very thin light hair and short-limbed dwarfism due to skeletal dysplasia.
n
A form of striate palmoplantar keratoderma with woolly hair and cardiomyopathy.
n
(Canada, US) Celiac disease.
n
Any of the Charcot-Marie-Tooth disorders.
n
A rare syndrome caused by a genetic disorder, usually involving coloboma of the eye, heart defects, atresia of the nasal choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities and deafness.
n
(medicine) The disease scurvy especially in infants.
n
(pathology) An inherited genetic disorder of the mandible characterised by chubby cheeks
n
postpartum hyperprolactinemia in the absence of breastfeeding
n
(medicine) Congenital hemidysplasia with ichthyosiform erythroderma and limb defects.
n
eosinophilic granulomatosis with polyangiitis
n
A rare congenital disorder characterized by growth failure, impaired development of the nervous system, abnormal photosensitivity, and premature aging.
n
A genetic disorder associated with dwarfism, bushy eyebrows, and various other physical and mental abnormalities.
n
A rare genetic disorder characterized by delayed development and intellectual disabilities, distinctive facial features, unusually flexible joints, and loose folds of extra skin, especially on the hands and feet.
n
A rare inherited disorder characterized by multiple hamartomas and an increased risk of certain cancers.
n
Aicardi-Goutières syndrome
n
(medicine) A rare genetic disorder identified by the catlike cry of the infant, caused by an absence of some genetic material on the fifth chromosome.
n
(pathology, neurology) Initialism of chronic traumatic encephalopathy. [(pathology, neurology) a form of traumatic brain injury; it is a progressive degenerative disease found in individuals who have been subjected to multiple concussions and other forms of head injury]
n
A form of myotonic dystrophy (type 1).
n
(pathology) Synonym of pyelocystitis
n
subcutaneous sarcoidosis
n
(medicine) Initialism of dyskeratosis congenita. [A rare progressive congenital disorder with a highly variable phenotype, sometimes resembling premature aging, and typically first affecting the skin and proceeding to bone marrow failure.]
n
(medical genetics) A rare, severe genetic disorder resulting in elfin facial features and an impaired insulin receptor.
n
(neurology, chiefly US) A genetic disorder caused by the presence of all or part of a third copy of chromosome 21 (a chromosomal excess), whereby the patients bear a certain resemblance to the Mongoloid race, such as a small head and tilted eyelids, and typically have a delay in cognitive ability and physical growth.
n
(chiefly Britain, Canada) Condition caused by a chromosomal deficiency
n
A rare genetic disorder characterized by microcephaly, growth retardation, and a characteristic facial appearance.
n
progressive muscular atrophy
n
dermatitis herpetiformis
n
A rare progressive congenital disorder with a highly variable phenotype, sometimes resembling premature aging, and typically first affecting the skin and proceeding to bone marrow failure.
n
A genetic disorder caused by the presence of all or part of an extra 18th chromosome, and characterised by organ defects and developmental delays.
n
(pathology) Childhood shigellosis.
n
Synonym of Camurati-Engelmann disease
n
(medicine) polyostotic sclerosing histiocytosis, a rare disease characterized by the abnormal multiplication of histiocytes.
n
A neurological disorder arising from mercury poisoning, leading to irritability, depression, etc.
n
A rare genetic neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement.
n
A rare genetic disease typically leading to acute myelogenous leukemia, and often accompanied by congenital defects such as short stature, abnormalities of the skin, arms, head, eyes, kidneys, and ears, and developmental disabilities.
n
Synonym of Farber disease
n
A rare hereditary disorder marked by various combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and sometimes learning disability or mental retardation.
n
A rare genetic disorder linked to the X chromosome, causing physical anomalies and developmental delays, characterised by retardation, hyperactive behaviour, constipation, hypotonia, and a characteristic facial appearance.
n
galactorrhoea-amenorrhoea associated with a pituitary tumour
n
mandibulofacial dysostosis: a syndrome that causes various physical deformities
n
A rare severe form of distal arthrogryposis.
n
A rare neurological disorder resulting from damage to the parotid glands or auriculotemporal nerve, with symptoms including redness and sweating on the cheek.
n
(pathology) An inherited disease in which reduced expression of frataxin causes progressive damage to the nervous system.
n
A rare genetic disorder characterized by growth retardation, alopecia, pseudoanodontia, and progressive optic atrophy.
n
the dysmorphic facial features found in Hurler's syndrome and Hunter syndrome, characterized by thickened gingiva (gums) and upturned nose
n
A condition where there is over-production of growth hormone by the pituitary gland in a child before the bone growth plates close, resulting in excessive long bone growth, accompanied by muscular weakness and sexual impotence.
n
(pathology) Mononucleosis.
n
A rare congenital defect characterized by incomplete development of the ear, nose, soft palate, lip, and mandible.
n
A very rare skeletal condition of uncertain etiology, characterized by the uncontrolled proliferation of distended, thin-walled vascular or lymphatic channels within bone, which leads to resorption and replacement of bone with angiomas and/or fibrosis.
n
A congenital disorder that affects growth, including cranial development, hair growth, and dental development.
n
Pantothenate kinase-associated neurodegeneration
n
Hallervorden-Spatz disease
n
A condition associated with multifocal Langerhans cell histiocytosis and a triad of exophthalmos, lytic bone lesions (often in the skull), and diabetes insipidus.
n
congenital self-healing reticulohistiocytosis: a self-limited form of Langerhans cell histiocytosis
n
(pathology) A hard or bony swelling that can develop in the distal interphalangeal joints, a sign of osteoarthritis.
n
A rare form of sarcoidosis, with symptoms including uveitis, swelling of the parotid gland, chronic fever, and sometimes palsy of the facial nerves.
n
childhood disintegrative disorder
n
Ramsay Hunt syndrome type 3
n
A condition caused by methylmercury poisoning, characterised by paresthesia, ataxia, and impaired speech and vision.
n
A form of trichothiodystrophy characterised by ichthyosis, brittle hair and nails, intellectual impairment, and short stature.
n
A very rare disease resulting from ligand-independent activation of the type 1 parathyroid hormone receptor, leading to various physical abnormalities.
n
(medicine) An epileptic syndrome characterized by eyelid myoclonia, eye-closure-induced seizures or electroencephalography paroxysms (or both), and photosensitivity.
n
A rare, sometimes fatal congenital disorder featuring abnormal development of the pancreas, nose, and scalp, with mental retardation, hearing loss, and growth failure.
n
A rare genetic disorder that affects the cerebellum.
n
The combination of primary ciliary dyskinesia, situs inversus, chronic sinusitis, and bronchiectasis.
n
Alternative form of Kawasaki disease [(medicine) An illness of childhood that causes fever, lymphadenopathy, elevated platelet count, and a variety of other symptoms.]
n
A congestive cardiomyopathy caused by a combination of dietary deficiency of selenium and the presence of a mutated strain of Coxsackievirus.
n
A rare genetic disorder characterized by abnormal diffuse cartilage calcification, hypoplasia of the mid-face, peripheral pulmonary stenosis, hearing loss, short distal phalanges of the fingers, and mild mental retardation.
n
A rare benign chronic inflammatory disorder whose primary symptoms are subdermal lesions in the head or neck or painless unilateral inflammation of cervical lymph nodes.
n
A rare disease characterized by the congenital fusion of any two of the seven cervical vertebrae.
n
(medicine) A rare congenital medical condition in which blood vessels and/or lymph vessels fail to form properly. The three main features are nevus flammeus, venous and lymphatic malformations, and soft-tissue hypertrophy of the affected limb.
n
A syndrome caused by bilateral lesions of the medial temporal lobe, characterized by hypersexuality, hyperorality, dietary changes, docility, and visual agnosia.
n
Hypothyroidism in infancy or childhood characterised by lower-extremity or generalized muscular hypertrophy, myxoedema, short stature, and cretinism.
n
globoid cell leukodystrophy, or galactosylceramide lipidosis; a rare, often fatal degenerative disorder that affects the myelin sheath of the nervous system
n
Initialism of Keutel syndrome. [A rare genetic disorder characterized by abnormal diffuse cartilage calcification, hypoplasia of the mid-face, peripheral pulmonary stenosis, hearing loss, short distal phalanges of the fingers, and mild mental retardation.]
n
(medicine, neurology) A rare childhood neurological syndrome, characterized by the sudden or gradual development of aphasia and an abnormal electroencephalogram.
n
A genetic disorder characterised by fine sparse scalp hair, thin nails, a pear-shaped broad nose, and cone-shaped epiphyses of the middle phalanges of some fingers and toes.
n
A congenital disorder characterised by dislocation of the knees, hips and elbows, flattened facial appearance, prominent forehead, and depressed nasal bridge.
n
(pathology) A rare inborn error of sterol biosynthesis characterised by facial dysmorphism and other congenital anomalies
n
A rare genetic disorder associated with retinitis pigmentosa, extra digits, spastic paraplegia, hypogonadism, and mental retardation.
n
A childhood hip disorder initiated by a disruption of blood flow to the ball of the femur, which subsequently stops growing.
n
Legg-Calvé-Perthes disease
n
(neurology, medicine) A rare inherited neurometabolic disorder that affects the central nervous system.
n
Synonym of Leigh disease
n
(medical genetics) Synonym of Donohue syndrome
n
A rare rheumatic condition.
n
(medicine, dated) Langerhans cell histiocytosis
n
Alternative form of leukoencephalitis [An epizootic disease of horses, characterized by drowsiness, imperfect vision, partial paralysis of the throat, twitching of the muscles of the shoulder, unsteady gait, and softening of the white substance of the frontal lobes; forage poisoning.]
n
(pathology) A rarefaction of the white matter in the brain.
n
A neurotoxic disease of horses.
n
(medicine) A disorder characterised by abnormal development of the lacrimal system, ears, teeth, and upper limbs.
n
craniodiaphyseal dysplasia: a rare autosomal-recessive bone disorder that causes calcium to build up in the skull, disfiguring the facial features and reducing life expectancy
n
Synonym of ataxia-telangiectasia
n
(medicine) A rare genetic disorder which causes multiple defects including mental retardation, hypotonia and cataracts.
n
A rare genetic disorder resulting in dwarfism with short forearms and legs and a bayonet-like deformity of the forearms (Madelung's deformity).
n
(medicine) A prolactinoma with size greater than one centimeter.
n
(medical genetics) A very rare disorder in which multiple benign tumors of cartilage, (enchondromas), develop within the bones.
n
(medicine) The disease acromegaly.
n
A rare disorder involving cerebellar ataxia, mental retardation, congenital cataracts in early childhood, muscle weakness, inability to chew food, brittle fingernails, and sparse hair.
n
Synonym of Albright's hereditary osteodystrophy
n
Synonym of Müllerian agenesis
n
A complex genetic disorder affecting the bone, skin and endocrine systems.
n
A rare genetic disorder associated with the MKKS protein.
n
A rare, lethal ciliopathic genetic disorder characterized by renal cystic dysplasia, central nervous system malformations (occipital encephalocele), polydactyly (postaxial), hepatic developmental defects, and pulmonary hypoplasia due to oligohydramnios.
n
An X-linked recessive disorder that affects copper levels in the body and produces distinctive colourless, breakable hair.
n
A rare mitochondrial disease characterized by progressive myoclonic epilepsy and clumps of diseased mitochondria that accumulate in the subsarcolemmal region of the muscle fiber and appear as "ragged red fibers" when stained.
n
(more generally) any of a range of such disorders caused by defective genes for arylsulfatase enzymes.
n
A rare variant of Guillain-Barré syndrome, manifesting as a descending paralysis that proceeds in the reverse order and usually affects the eye muscles first.
n
A particular genetic disease, characterized by facial anomalies and missing toes.
n
A congenital malformation characterized by lissencephaly.
n
A neurological syndrome caused by severe mercury poisoning.
n
Abbreviation of McKusick-Kaufman syndrome. [A rare genetic disorder associated with the MKKS protein.]
n
(pathology) mononucleosis
n
(medical genetics, rheumatology, immunology) A rare autosomal-dominant disease that causes sensorineural deafness and recurrent hives, and can lead to amyloidosis.
n
Initialism of Muckle-Wells syndrome. [(medical genetics, rheumatology, immunology) A rare autosomal-dominant disease that causes sensorineural deafness and recurrent hives, and can lead to amyloidosis.]
n
A craniofacial genetic disorder whose typical characterics include an underdeveloped cheek and jaw, downward sloping of the opening of the eyes, reduced or missing lower eyelashes, and shortened forearms.
n
Nager acrofacial dysostosis
n
(medicine) polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
n
(medicine) An inherited medical condition involving defects within multiple body systems such as the skin, nervous system, eyes, endocrine system, and bones.
n
A congenital immunodeficiency due to underdevelopment of the thymus.
n
A rare congenital disorder causing chromosomal instability.
n
A relatively common autosomal-dominant congenital disorder, a form of dwarfism accompanied by heart defect, learning difficulties, and a characteristic facial appearance.
n
An X-linked recessive connective tissue disorder caused by a deficiency in the transport of copper, and leading to the formation of projections on the back of the skull.
n
(medicine) Synonym of hereditary hemorrhagic telangiectasia
n
A collagen cross-linking deficiency brought on by dietary overreliance on the seeds of plants of the genus Lathyrus, especially Lathyrus sativus, the grass pea.
n
A rare genetic disorder characterized mainly by pachydermia, periostosis, and finger clubbing (swelling of tissue with loss of normal angle between nail and nail bed).
n
A rare genetic disorder that affects the development of many parts of the body.
n
(pathology) A rare autosomal-recessive condition characterized by facial dysmorphism, cognitive impairment, and skeletal anomalies.
n
A rare syndrome characterized by facial abnormalities (including a mask-like appearance and a bulky, flattened nose) and malformation of extremities.
n
A rare leukodystrophy in which coordination, motor abilities, and intellectual function are delayed to variable extents.
n
A genetic disorder leading to congenital bilateral sensorineural hearing loss and goitre with occasional hypothyroidism.
n
Legg-Calvé-Perthes disease
n
A rare genetic disorder characterized by craniosynostosis.
n
(pathology) Mononucleosis.
n
A rare neurodegenerative disease that causes progressive destruction of nerve cells in the brain. Symptoms include aphasia and dementia.
n
(medicine) A rare autosomal dominant disorder of melanocyte development, whose common characteristics include a congenital white forelock, scattered normally-pigmented and hyperpigmented macules, and a triangular depigmented patch on the forehead.
n
(medicine) hypertrophic osteoarthropathy
n
A rare disease characterized by difficulty in swallowing, iron-deficiency anemia, and esophageal webs.
n
(abbreviation) progressive multifocal leukoencephalopathy
n
Rothmund-Thomson syndrome
n
A human disease caused by deletion of part of chromosome 15, and manifested by intellectual disability, a constant feeling of hunger, and other problems.
n
(pathology) An extremely rare genetic condition wherein symptoms resembling aspects of aging are manifested at an early age.
n
(medicine) A congenital disorder that causes skin overgrowth and atypical bone development, often accompanied by tumors.
n
Hallermann-Streiff syndrome
n
A genetic disease that causes mineralization of elastic fibers in certain tissues, typically leading to premature atherosclerosis and to problems with the skin and eyes.
n
(pathology) Initialism of pseudoxanthoma elasticum. [A genetic disease that causes mineralization of elastic fibers in certain tissues, typically leading to premature atherosclerosis and to problems with the skin and eyes.]
n
(medicine) A genetic disorder characterized by dense, fragile bones and dwarfism.
n
Alternative form of pycnodysostosis [(medicine) A genetic disorder characterized by dense, fragile bones and dwarfism.]
n
Ramsay Hunt syndrome type 1: a rare form of cerebellar degeneration.
n
Synonym of Reiter's syndrome
n
(pathology) A disorder of infancy and early childhood caused by a deficiency of vitamin D, causing soft bones.
n
(pathology) A rare syndrome of which symptoms include facial dysmorphism, short stature, motor control and learning difficulties, ataxia, microcephaly, conjunctival telangiectasia, recurring sinus infections, late onset of pulmonary fibrosis, increased alphafetoproteins, and increased radiosensitivity.
n
A condition characterized by short stature, learning difficulties, distinctive facial features, and broad thumbs and first toes.
n
A paediatric medical disorder characterised by gastrointestinal symptoms and associated neurological features.
n
(pathology) A rare autosomal-recessive lysosomal storage disease that primarily affects the brain and spinal cord, caused by a buildup of glycosaminoglycans in the body's lysosomes.
n
A form of juvenile osteochondrosis of the spine.
n
A congenital neurodegenerative syndrome with various physical anomalies, including severe midface retraction, and retarded growth and mental development.
n
A rare disease characterised by chronic hives and periodic fever, bone and joint pain (sometimes with joint inflammation), weight loss, malaise, fatigue, swollen lymph glands and enlarged spleen and liver.
n
Synonym of Albright's hereditary osteodystrophy
n
(medicine) Microcephalic primordial dwarfism, a congenital nanosomic disorder characterized by intrauterine growth retardation and postnatal dwarfism with a small head, narrow birdlike face, and intellectual disability.
n
mixed connective tissue disease
n
A rare congenital disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal abnormalities, and short stature.
n
A growth disorder, a form of dwarfism, sometimes treatable.
n
A rare form of ichthyosis accompanied by spastic paraplegia and delayed mental development.
n
A rare genetic disorder characterized by excessive physical growth during the first years of life, sometimes accompanied by intellectual and other disabilities.
n
(pathology) Synonym of polycystic ovary syndrome
n
myotonic dystrophy type 1
n
(medical genetics) A genetic disorder affecting the connective tissue, characterized by facial abnormalities, ocular problems, hearing loss, and joint problems.
n
A rare type of angiophakomatosis characterized by abnormal blood vessels on the surface of the brain, and often associated with port-wine stains of the face, glaucoma, seizures, mental retardation, and ipsilateral leptomeningeal angioma.
n
A rare genetic disorder in which harmful quantities of gangliosides accumulate in the brain's nerve cells.
n
autosomal-dominant myotonia congenita
n
Alternative form of Thomsen disease [autosomal-dominant myotonia congenita]
n
A rare autosomal dominant disorder characterized by physical malformations and neurological and developmental defects.
n
Alice in Wonderland syndrome
n
A rare genetic disorder causing various bodily malformations.
n
(medicine, neurology) Any fatal, incurable degenerative disease of the brain transmitted by prions.
n
A rare autosomal-dominant congenital disorder characterized by craniofacial deformities.
n
An autosomal-recessive congenital skin disease characterized by a congenital ichthyosiform erythroderma, growth and mental retardation, progeria-like facies, and brittle hair.
n
A rare progressive congenital disorder whose symptoms include achalasia, Addisonianism, and alacrimia.
n
(pathology, endocrinology) A very rare recessive genetic disorder with varying symptoms that may include a hoarse voice, lesions and scarring on the skin, easily damaged skin with poor wound healing, dry, wrinkly skin, and beading of the papules around the eyelids.
n
A relatively rare genetic disorder that is a leading cause of deafblindness.
n
cerebrotendineous xanthomatosis
n
(informal) Dupuytren's contracture
n
Synonym of leontiasis ossea (now recognized as a symptom rather than a disease)
n
(medicine) A type of angiophakomatosis, caused by certain DNA sequence variants (in the VHL gene).
n
Neurofibromatosis type I.
n
(medicine) A rare genetic disorder most often characterized by varying degrees of deafness, minor defects in structures arising from the neural crest, and pigmentation anomalies.
n
aniridia-Wilms' tumor syndrome
n
aniridia-Wilms' tumor syndrome
n
A rare autosomal-dominant genetic disorder associated with rapid growth beginning in the prenatal period, characterized by advanced osseous maturation and distinctive craniofacial, skeletal and neurological abnormalities.
n
A rare genetic disorder characterized by short stature, brachycephaly, and other facial abnormalities; hand defects, including brachydactyly; and distinctive ocular abnormalities.
n
A rare progeroid syndrome characterized by the appearance of premature aging.
n
Alternative form of Werner syndrome [A rare progeroid syndrome characterized by the appearance of premature aging.]
n
(medicine) The triad of infantile epileptic spasms, hypsarrhythmia, and developmental regression.
n
Freeman-Sheldon syndrome
n
A progeroid syndrome associated with abnormalities in bone maturation and hormone metabolism.
n
A rare neurodevelopmental disorder characterized by a distinctive elfin facial appearance, developmental delay coupled with strong language skills, and cardiovascular problems.
n
(medicine) A rare X-linked recessive disease characterized by eczema, thrombocytopenia, immune deficiency, and bloody diarrhea.
n
A disease found in the African Pygmy domesticated hedgehog, characterized by vacuolization of the grey matter of the brain and spinal cord that leads to neurogenic muscle atrophy.
n
A genetic disorder characterized by a distinct craniofacial phenotype, growth and mental retardation, muscle hypotonia, seizures, and congenital heart defects.
n
Bonnet-Dechaume-Blanc syndrome
Note: Concept clusters like the one above are an experimental OneLook
feature. We've grouped words and phrases into thousands of clusters
based on a statistical analysis of how they are used in writing. Some
of the words and concepts may be vulgar or offensive. The names of the
clusters were written automatically and may not precisely describe
every word within the cluster; furthermore, the clusters may be
missing some entries that you'd normally associate with their
names. Click on a word to look it up on OneLook.
Our daily word games Threepeat and Compound Your Joy are going strong. Bookmark and enjoy!
Today's secret word is 7 letters and means "No longer existing; died out." Can you find it?