Epilepsy syndrome that is characterised by generalised seizures with no apparent cause Generalized epilepsy Other names Primary generalized epilepsy, idiopathic epilepsy Generalized 3 Hz spike-and-wave discharges on an electroencephalogram Specialty Neurology Generalized epilepsy is a form of epilepsy characterised by generalised seizures with no apparent cause. [1] Generalized seizures , as opposed to focal seizures , are a type of seizure that impairs consciousness and distorts the electrical activity of the whole or a larger portion of the brain (which can be seen, for example, on electroencephalography , EEG). [2] Generalized epilepsy is primary because the epilepsy is the originally diagnosed condition itself, as opposed to secondary epilepsy, which occurs as a symptom of a diagnosed condition. [3] Contents 1 Manifestation 2 Prognosis 3 Treatment 4 References 5 External links Manifestation [ edit ] Generalized seizures can be either absence seizures , myoclonic seizures , clonic seizures , tonic-clonic seizures or atonic seizures . Generalized seizures occur in various seizure syndromes, including myoclonic epilepsy , familial neonatal convulsions , childhood absence epilepsy , absence epilepsy , infantile spasms (West's syndrome), Juvenile Myoclonic Epilepsy , Lennox-Gastaut syndrome and Generalized epilepsy with occipital semiology. [4] Prognosis [ edit ] Most generalized epilepsy starts during childhood. ... External links [ edit ] Classification D ICD - 10 : G40.3 ICD - 9-CM : 345.0 - 345.1 MeSH : D004829 v t e Diseases of the nervous system , primarily CNS Inflammation Brain Encephalitis Viral encephalitis Herpesviral encephalitis Limbic encephalitis Encephalitis lethargica Cavernous sinus thrombosis Brain abscess Amoebic Brain and spinal cord Encephalomyelitis Acute disseminated Meningitis Meningoencephalitis Brain / encephalopathy Degenerative Extrapyramidal and movement disorders Basal ganglia disease Parkinsonism PD Postencephalitic NMS PKAN Tauopathy PSP Striatonigral degeneration Hemiballismus HD OA Dyskinesia Dystonia Status dystonicus Spasmodic torticollis Meige's Blepharospasm Athetosis Chorea Choreoathetosis Myoclonus Myoclonic epilepsy Akathisia Tremor Essential tremor Intention tremor Restless legs Stiff-person Dementia Tauopathy Alzheimer's Early-onset Primary progressive aphasia Frontotemporal dementia / Frontotemporal lobar degeneration Pick's Dementia with Lewy bodies Posterior cortical atrophy Vascular dementia Mitochondrial disease Leigh syndrome Demyelinating Autoimmune Inflammatory Multiple sclerosis For more detailed coverage, see Template:Demyelinating diseases of CNS Episodic/ paroxysmal Seizures and epilepsy Focal Generalised Status epilepticus For more detailed coverage, see Template:Epilepsy Headache Migraine Cluster Tension For more detailed coverage, see Template:Headache Cerebrovascular TIA Stroke For more detailed coverage, see Template:Cerebrovascular diseases Other Sleep disorders For more detailed coverage, see Template:Sleep CSF Intracranial hypertension Hydrocephalus Normal pressure hydrocephalus Choroid plexus papilloma Idiopathic intracranial hypertension Cerebral edema Intracranial hypotension Other Brain herniation Reye syndrome Hepatic encephalopathy Toxic encephalopathy Hashimoto's encephalopathy Both/either Degenerative SA Friedreich's ataxia Ataxia–telangiectasia MND UMN only: Primary lateral sclerosis Pseudobulbar palsy Hereditary spastic paraplegia LMN only: Distal hereditary motor neuronopathies Spinal muscular atrophies SMA SMAX1 SMAX2 DSMA1 Congenital DSMA Spinal muscular atrophy with lower extremity predominance (SMALED) SMALED1 SMALED2A SMALED2B SMA-PCH SMA-PME Progressive muscular atrophy Progressive bulbar palsy Fazio–Londe Infantile progressive bulbar palsy both: Amyotrophic lateral sclerosis v t e Seizures and epilepsy Basics Seizure types Aura (warning sign) Postictal state Epileptogenesis Neonatal seizure Epilepsy in children Management Anticonvulsants Investigations Electroencephalography Epileptologist Personal issues Epilepsy and driving Epilepsy and employment Seizure types Focal Seizures Simple partial Complex partial Gelastic seizure Epilepsy Temporal lobe epilepsy Frontal lobe epilepsy Rolandic epilepsy Nocturnal epilepsy Panayiotopoulos syndrome Vertiginous epilepsy Generalised Tonic–clonic Absence seizure Atonic seizure Automatism Benign familial neonatal seizures Lennox–Gastaut syndrome Myoclonic astatic epilepsy Epileptic spasms Status epilepticus Epilepsia partialis continua Complex partial status epilepticus Myoclonic epilepsy Progressive myoclonus epilepsy Dentatorubral–pallidoluysian atrophy Unverricht–Lundborg disease MERRF syndrome Lafora disease Juvenile myoclonic epilepsy Non-epileptic seizure Febrile seizure Psychogenic non-epileptic seizure Related disorders Sudden unexpected death in epilepsy Todd's paresis Landau–Kleffner syndrome Epilepsy in animals Organizations Citizens United for Research in Epilepsy (US) Epilepsy Action (UK) Epilepsy Action Australia Epilepsy Foundation (US) Epilepsy Outlook (UK) Epilepsy Research UK Epilepsy Society (UK)
A rare endocrine disease characterized by severe chronic hypernatremic dehydration caused by decreased intake of water based on impaired thirst perception, due to a selective defect in hypothalamic osmoregulation of thirst. Structural hypothalamic lesions are absent and arginine vasopressin secretion is normal.
An association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985.
A rare, genetic, neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign.
Mutation in the ATP6AP2 gene can also cause a form of syndromic X-linked mental retardation (MRXSH; 300423) that has overlapping features. Clinical Features Poorkaj et al. (2010) reported a multigenerational family of Danish and German descent in which 5 males in 3 generations presented with a unique syndrome characterized by parkinsonian features and variably penetrant spasticity. ... Two individuals had only a parkinsonian syndrome, with classic features of cogwheel rigidity, resting tremor, and bradykinesia.
An extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974.
A rare constitutional aplastic anemia disorder characterized by severe hypo/aplastic anemia or pancytopenia associated with skeletal anomalies (such as radial/ulnar defects and hand/digit abnormalities) and an increased risk of leukemia. There have been no further descriptions in the literature since 1995.
Gonzalez et al. (1977) concluded that some earlier reports of presumed Fanconi anemia actually are instances of the WT syndrome. For example, McDonald and Goldschmidt (1960) reported 3 children and their mother who had severe anemia in childhood.
Genetic counseling. Simpson-Golabi-Behmel syndrome type 1 is inherited in an X-linked manner. ... Diagnosis Consensus clinical diagnostic criteria for Simpson-Golabi-Behmel syndrome type 1 (SGBS1) have not been established. ... Terms no longer in use for SGBS: Gigantism-dysplasia syndrome Encephalo-tropho-schisis syndrome Golabi-Rosen syndrome Simpson dysmorphia syndrome Prevalence The prevalence of SGBS1 is unknown; however, it is believed to be underdiagnosed due to the wide spectrum of clinical severity. ... Nevo syndrome manifestations further include accelerated osseous maturation, large extremities, and hypotonia. ... Infant of a diabetic mother syndrome. Infants born to diabetic mothers (IDM) have a higher rate of congenital malformations.
A milder form, called intermediate DEND syndrome, presents with less severe developmental delay and without epilepsy. ... The location of the KCNJ11 pathogenic variant appears to predict the severity of the disease (isolated diabetes mellitus, intermediate DEND syndrome, DEND syndrome), however, there are some exceptions. ... The severity of PNDM along the spectrum of isolated diabetes mellitus, intermediate DEND syndrome, and DEND syndrome correlates with the genotype [Proks et al 2004]. ... SLC19A2 encodes a thiamine transporter. Also known as Rogers syndrome, this syndrome can also be associated with neurologic deficits, visual disturbances, and cardiac abnormalities. ... See Thiamine-Responsive Megaloblastic Anemia Syndrome. A syndrome of neonatal diabetes mellitus, developmental delays, sacral agenesis and imperforated anus caused by pathogenic variants in MNX1 .
Approximately 25% of patients with mutations in the KCNJ11 gene have associated neurological findings, including developmental delay and epilepsy (DEND syndrome, see this term) or a milder form of DEND without seizures and with less severe developmental delay (intermediate DEND, see this term). ... These last five genes may be associated with syndromic forms. The genetic defects result in partial or complete insulin deficiency, and for the last six in possible pancreatic hypoplasia. ... Differential diagnosis Differential diagnoses include type 1 diabetes mellitus, transient neonatal diabetes mellitus (TNDM), IPEX syndrome, and Wolcott-Rallison syndrome (see these terms).
Some individuals also have neurological problems including developmental delay and epilepsy; when these problems are present with PNDB, it is called DEND syndrome. A few individuals with PNDB also have an underdeveloped pancreas and may have digestive problems.
More severe mutations in the KCNJ11 gene can cause early-onset diabetes which does not respond to the sulfonylurea drugs, as well as a syndrome of developmental delay and neurological features called the DEND syndrome.
However, patients with Serotonin syndrome have a history of ingestion of serotonergic drugs (Ex: SSRI ). ... Furthermore, locked-in syndrome is caused by damage to the brainstem. [45] --Stiff-person syndrome : Catatonia and stiff-person syndrome are similar in that they may both present with rigidity, autonomic instability and a positive response to benzodiazepines. [46] However, stiff-person syndrome may be associated with anti-glutamic acid decarboxylase (anti-GAD) antibodies [47] [48] and other catatonic signs such as mutism and posturing are not part of the syndrome. ... PMID 22135438 . ^ Fink, Max (July 2009). "Catatonia: a syndrome appears, disappears, and is rediscovered" . ... "Catatonia and neuroleptic malignant syndrome: psychopathology and pathophysiology" . ... "Clinical Spectrum of Stiff Person Syndrome: A Review of Recent Reports" .
Peter Pan syndrome Illustration of Peter Pan playing the pipes, by F. ... This syndrome affects people who do not want or feel unable to grow up, people with the body of an adult but the mind of a child. ... Dan Kiley in his book The Peter Pan Syndrome: Men Who Have Never Grown Up first published in 1983. ... Kiley got the idea for "The Peter Pan Syndrome" after noticing that, like the famous character in the J. ... S2CID 2402474 . ^ a b c "Overprotecting parents can lead children to develop the so-called 'Peter Pan Syndrome ' " . Canal UGR (in Spanish). 2007-04-02 .
A different condition, Lambert–Eaton myasthenic syndrome , is usually associated with presynaptic antibodies to the voltage-dependent calcium channel . ... The most studied diseases affecting the human acetylcholine receptor are myasthenia gravis and some forms of congenital myasthenic syndrome . Other diseases include the Lambert–Eaton syndrome and botulism . ... Congenital syndromes can have multiple targets affecting either the presynaptic, synaptic or postsynaptic parts of the neuromuscular junction. ... (reference 39) Lambert-Eaton myasthenic syndrome (LEMS) [ edit ] Lambert-Eaton myasthenic syndrome (LEMS) is similar to myasthenia gravis in that it is an immune-mediated response acting against a specific protein in the neuromuscular junction. ... "Myasthenia gravis and Lambert-Eaton myasthenic syndrome in the same patient". Muscle Nerve . 36 (1): 115–7. doi : 10.1002/mus.20735 .
Overview Bullous pemphigoid (BUL-us PEM-fih-goid) is a rare skin condition that causes large, fluid-filled blisters. They develop on areas of skin that often flex — such as the lower abdomen, upper thighs or armpits. Bullous pemphigoid is most common in older adults. Bullous pemphigoid occurs when your immune system attacks a thin layer of tissue below your outer layer of skin. The reason for this abnormal immune response is unknown, although it sometimes can be triggered by taking certain medications. Bullous pemphigoid often goes away on its own in a few months, but may take as many as five years to resolve.
Bullous pemphigoid is a skin disorder characterized by large blisters. The blisters are usually located on the arms, legs, or middle of the body. In some people, the mouth or genitals are also affected. The blisters may break open and form ulcers or open sores. Bullous pemphigoid usually occurs in older persons and is rare in young people. Symptoms may come and go. In most patients, the condition goes away after several years.
It also occurs after acute severe ocular inflammation in patients with Stevens-Johnson syndrome. [38] Pathophysiology [ edit ] Autoantibodies target the basement membrane zone proteins which are responsible to promote adhesion within the basement membrane zone of the mucosa and the skin.
A rare autoimmune bullous skin disease characterized by acquired, subepidermal tense bullae occurring on normal of inflamed skin and that is typically widespread (occurring in the flexor regions of the proximal arms and legs, in the armpits, groin and the abdomen) and often associated with pruritus. The evolution is typically chronic with spontaneous exacerbations and remission. Epidemiology Bullous pemphigoid (BP) is the most common autoimmune subepidermal blistering disease of the skin and mucous membranes. It has an estimated prevalence of 1/4,000 in Europe. The incidence is reported to be increasing but currently ranges between 2-22/1,000,000 worldwide. Clinical description BP predominantly affects the elderly with an average age of 80 years and is significantly associated with neurological disorders.
Infantile convulsions and choreoathetosis Other names Paroxysmal kinesigenic dyskinesia and infantile convulsions Infantile convulsions and choreoathetosis is inherited via an autosomal dominant manner Infantile convulsions and choreoathetosis ( ICCA ) syndrome is a neurological genetic disorder with an autosomal dominant mode of inheritance. ... This genetic disease has been mapped to chromosome 16p -q12. [3] More than 30 families with the clinical characteristics of ICCA syndrome have been described worldwide so far. [4] [5] Contents 1 Presentation 2 Genetics 3 Diagnosis 4 Management 5 References 6 External links Presentation [ edit ] The specific and familial association of BIFE and PKC defines a novel clinical entity : the infantile convulsions and choreoathetosis syndrome. ... Since the first report similar clinical presentations have been published which confirm the specificity of the ICCA syndrome. [6] [7] Genetics [ edit ] In affected individuals presenting with the ICCA syndrome, the human genome was screened with microsatellite markers regularly spaced, and strong evidence of linkage with the disease was obtained in the pericentromeric region of chromosome 16, with a maximum lod score , for D16S3133 of 6.76 at a recombination fraction of 0. ... "Genetics of infantile seizures with paroxysmal dyskinesia: The infantile convulsions and choreoathetosis (ICCA) and ICCA-related syndromes" . Journal of Medical Genetics . 45 (12): 773–79. doi : 10.1136/jmg.2008.059519 . ... "Familial infantile convulsions and paroxysmal choreoathetosis: A new neurological syndrome linked to the pericentromeric region of human chromosome 16" .
Paroxysmal choreoathetosis is a disorder of involuntary movements characterized by attacks that occur spontaneously or are induced by a variety of stimuli. The ICCA syndrome shares overlapping clinical features with benign familial infantile seizures-2 (BFIS2; 605751) and episodic kinesigenic dyskinesia-1 (EKD1; 128200), which are allelic disorders. ... The authors suggested that the strong association of the 2 disorders in the same families defined a distinct neurologic syndrome. Partial seizures started with a psychomotor arrest and a deviation of the head and eyes to one side, often with secondary generalization. ... In a Chinese family, Lee et al. (1998) confirmed that the autosomal dominant trait of benign infantile convulsions and paroxysmal choreoathetosis of the dystonic form, the ICCA syndrome, is linked to the 16p12-q12 region. ... Two patients in each family also had infantile convulsion and choreoathetosis syndrome, indicating intrafamilial variability.
Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence. ... Etiology The genetic loci of ICCA syndrome have been described on chromosomes 16p11.2-q12.1, 16q13-q22.1 and 3q29-29. Mutations in the Proline-rich transmembrane protein 2 ( PRRT2 ) gene, located on 16p11.2, have recently been found in families affected by ICCA syndrome. This gene encodes a membrane protein that interacts with the presynaptic protein SNAP-25 but the mechanism leading to the disease remains unknown. ... Differential diagnosis Differential diagnosis includes other paroxysmal dystonias such as paroxysmal exertion-induced dyskinesia and paroxysmal non-kinesigenic dyskinesia (see these terms) triggered by drugs or food intake (such as caffeine and alcohol). Genetic counseling ICCA syndrome can present as sporadic or familial; in the latter case, it is transmitted as an autosomal dominant trait that can be variably expressed within the same family.
It is one of the triad of features characteristic of Gomez-Lopez-Hernandez syndrome . When detected, signs of GLHS ought to be looked for on post-natal review. ... PMID 12368992 . ^ Fernández-Jaén A, Fernández-Mayoralas DM, Calleja-Pérez B, Muñoz-Jareño N, Moreno N (January 2009). "Gomez-Lopez-Hernandez syndrome: two new cases and review of the literature". ... "Co-occurrence of Gomez-Lopez-Hernandez syndrome and Autism Spectrum Disorder: Case report with review of literature" . ... PMID 30181940 . ^ Mak, CCY; et al. (13 December 2019). "MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis". ... "Prenatal magnetic resonance imaging in Gomez-Lopez-Hernandez syndrome and review of the literature".
Extracerebral anomalies are also sometimes present: mild dysmorphism, anomalies of the hands and/or feet; ophthalmologic, cardiac, renal, uterine and anal abnormalities and Hirschsprung disease. Syndromic associations have also been reported: Gomez-Lopez-Hernandez syndrome (or cerebellotrigeminodermal dysplasia), RS with bilateral temporoparietal alopecia, anaesthesia in the trigeminal territory and craniostenosis.
A number sign (#) is used with this entry because of evidence that multiple mitochondrial dysfunctions syndrome-6 (MMDS6) is caused by homozygous or compound heterozygous mutation in the PMPCB gene (603131) on chromosome 7q22. Description Multiple mitochondrial dysfunctions syndrome-6 is an autosomal recessive severe neurodegenerative disorder with onset in early childhood. ... For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (605711). Clinical Features Vogtle et al. (2018) reported 5 children from 4 unrelated families with an early-onset neurodegenerative disorder. ... Brain imaging showed T2-weighted hyperintensities in the basal ganglia in all patients, consistent with a clinical diagnosis of Leigh syndrome (256000), as well as progressive cerebral and cerebellar atrophy. ... INHERITANCE - Autosomal recessive GROWTH Other - Failure to thrive HEAD & NECK Head - Poor head control - Microcephaly, acquired (in some patients) Ears - Hearing loss (in some patients) Eyes - Pale optic discs (in some patients) - Loss of vision (in some patients) ABDOMEN Gastrointestinal - Poor feeding MUSCLE, SOFT TISSUES - Hypotonia NEUROLOGIC Central Nervous System - Delayed psychomotor development - Some patients may have normal early development - Developmental regression - Lack of independent ambulation - Lack of speech - Intellectual disability - Poor spontaneous movements - Spasticity - Ataxia - Dysmetria - Dystonia - Seizures, variable types - Epileptic encephalopathy (in some patients) - Cerebellar atrophy - Leukoencephalopathy - T2-weighted lesions in the basal ganglia - Leigh syndrome LABORATORY ABNORMALITIES - Impaired mitochondrial function - Decreased activities of mitochondrial respiratory enzymes, variable - Increased serum lactate, variable MISCELLANEOUS - Onset in the first years of life - Episodic regression during illness - Progressive disorder - Death in childhood may occur MOLECULAR BASIS - Caused by mutation in the mitochondrial processing peptidase, beta gene (PMPCB, 603131.0001 ) ▲ Close
A number sign (#) is used with this entry because of evidence that short QT syndrome-2 (SQT2) is caused by heterozygous mutation in the KCNQ1 gene (607542) on chromosome 11p15. Description Short QT syndrome is a cardiac channelopathy associated with a predisposition to atrial fibrillation and sudden cardiac death. ... For a discussion of genetic heterogeneity of short QT syndrome, see SQT1 (609620). Clinical Features Bellocq et al. (2004) reported a 70-year-old man who was successfully resuscitated after an episode of ventricular fibrillation. ... Molecular Genetics In a 70-year-old man with short QT syndrome who survived an episode of ventricular fibrillation, Bellocq et al. (2004) identified a missense mutation in the KCNQ1 gene (V307L; 607542.0037). ... Reviews Schimpf et al. (2005) reviewed the clinical, electrophysiologic, and molecular features of 15 reported cases and 2 unpublished cases of short QT syndrome types 1, 2, and 3 (609622). INHERITANCE - Autosomal dominant CARDIOVASCULAR Heart - Bradycardia - Short QT interval - Atrial fibrillation - Slow ventricular response - Coexisting sinus and atrioventricular node dysfunction - Ventricular fibrillation (in some patients) MISCELLANEOUS - Some patients are clinically asymptomatic MOLECULAR BASIS - Caused by mutation in the potassium voltage-gated channel, KQT-like subfamily, member 1 gene (KCNQ1, 607542.0037 ) ▲ Close
Congenital disorder of glycosylation type IIc Other names Rambam-Hasharon syndrome, CDG-IIc, CDG2C This condition ia inherited via autosomal recessive manner Congenital disorder of glycosylation type IIc or Leukocyte adhesion deficiency-2 (LAD2) is a type of leukocyte adhesion deficiency attributable to the absence of neutrophil sialyl-LewisX , a ligand of P - and E-selectin on vascular endothelium . [1] It is associated with SLC35C1 . [2] This disorder was discovered in two unrelated Israeli boys 3 and 5 years of age, each the offspring of consanguineous parents. ... External links [ edit ] Classification D ICD - 10 : D84.8 OMIM : 266265 External resources Orphanet : 99843 v t e Diseases of monocytes and granulocytes Monocytes and macrophages ↑ -cytosis : Monocytosis Histiocytosis Chronic granulomatous disease ↓ -penia : Monocytopenia Granulocytes ↑ -cytosis : granulocytosis Neutrophilia Eosinophilia / Hypereosinophilic syndrome Basophilia Bandemia ↓ -penia : Granulocytopenia/agranulocytosis ( Neutropenia / Severe congenital neutropenia / Cyclic neutropenia Eosinopenia Basopenia ) Disorder of phagocytosis Chemotaxis and degranulation Leukocyte adhesion deficiency LAD1 LAD2 Chédiak–Higashi syndrome Neutrophil-specific granule deficiency Respiratory burst Chronic granulomatous disease Neutrophil immunodeficiency syndrome Myeloperoxidase deficiency v t e Genetic disorder , membrane: Solute carrier disorders 1-10 SLC1A3 Episodic ataxia 6 SLC2A1 De Vivo disease SLC2A5 Fructose malabsorption SLC2A10 Arterial tortuosity syndrome SLC3A1 Cystinuria SLC4A1 Hereditary spherocytosis 4 / Hereditary elliptocytosis 4 SLC4A11 Congenital endothelial dystrophy type 2 Fuchs' dystrophy 4 SLC5A1 Glucose-galactose malabsorption SLC5A2 Renal glycosuria SLC5A5 Thyroid dyshormonogenesis type 1 SLC6A19 Hartnup disease SLC7A7 Lysinuric protein intolerance SLC7A9 Cystinuria 11-20 SLC11A1 Crohn's disease SLC12A3 Gitelman syndrome SLC16A1 HHF7 SLC16A2 Allan–Herndon–Dudley syndrome SLC17A5 Salla disease SLC17A8 DFNA25 21-40 SLC26A2 Multiple epiphyseal dysplasia 4 Achondrogenesis type 1B Recessive multiple epiphyseal dysplasia Atelosteogenesis, type II Diastrophic dysplasia SLC26A4 Pendred syndrome SLC35C1 CDOG 2C SLC39A4 Acrodermatitis enteropathica SLC40A1 African iron overload see also solute carrier family This genetic disorder article is a stub .
Those that are live born do not survive long. [7] Radiological findings include [8] Severe platyspondyly Distally tapered, shortened, incomplete or absent humeri and femurs Shortened or bowed radii, ulnas and tibias Hypoplastic pelvis and fibulas Deficient ossification of the metacarpals , middle and proximal phalanges Differential diagnosis [ edit ] This includes [9] Achondroplasia Achondrogenesis Atelosteogenesis III Boomerang dysplasia Campomelic dysplasia Ellis-van Creveld syndrome Hypophosphatasia Melnick Needles syndrome Metatropic dysplasia Osteogenesis imperfecta Roberts syndrome Short rib polydactyly syndrome Thanatophoric dysplasia Treatment [ edit ] There is currently no curative treatment for this condition.Supportive management is all that is currently available [ citation needed ] . ... History [ edit ] This condition was first described by Maroteaux et al. in 1982. [10] References [ edit ] ^ Sillence D, Worthington S, Dixon J, Osborn R, Kozlowski K (1997) Atelosteogenesis syndromes: a review, with comments on their pathogenesis. ... Prenat Diagn 22(12):1071-1075 ^ Nishimura G, Horiuchi T, Kim OH, Sasamoto Y (1997) Atypical skeletal changes in otopalatodigital syndrome type II: phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome.
Atelosteogenesis type 1 is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet ) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. As a result of the limb bone abnormalities, individuals with this condition have very short arms and legs. Characteristic facial features include a prominent forehead , wide-set eyes (hypertelorism ), an upturned nose with a grooved tip, and a very small lower jaw and chin (micrognathia ).
A number sign (#) is used with this entry because atelosteogenesis type I (AO1) is caused by heterozygous mutation in the FLNB gene (603381), which encodes filamin B, on chromosome 3p14. Description Atelosteogenesis is the name given by Maroteaux et al. (1982) to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue. Rimoin et al. (1980) termed it 'giant cell chondrodysplasia.' Patients with AO1 exhibit severe short-limbed dwarfism and dislocated elbows, hips, and knees (Jeon et al., 2014). Genetic Heterogeneity of Atelosteogenesis Atelosteogenesis type II (AO2; 256050) is caused by mutation in the SLC26A2 gene (606718) on chromosome 5q32. AO3 (108721) is also caused by mutation in the FLNB gene (603381). Clinical Features Sillence et al. (1982) reported 2 sporadic cases of atelosteogenesis.
A Pierre Robin syndrome associated with bone disease characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings. ... Differential diagnosis Differential diagnosis comprises other skeletal dysplasias with severe short-limbed dwarfism such as campomelic dysplasia, Ellis-van Creveld syndrome, achondroplasia, metatropic dysplasia, Roberts syndrome, short rib-polydactyly syndrome, and thanatophoric dysplasia.