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Late-Onset Localized Junctional Epidermolysis Bullosa-Intellectual Disability Syndrome
Orphanet
Late-onset localized jonctional epidermolysis bullosa-intellectual disability syndrome is a rare junctional epidermolysis bullosa subtype characterized by late-onset blistering surrounded by erythema and localized on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability.
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Mevalonate Kinase Deficiency
Wikipedia
"Hyperimmunoglobulinaemia D and periodic fever: a new syndrome". Lancet . 1 (8386): 1087–90. doi : 10.1016/S0140-6736(84)92505-4 . ... "Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group". ... "Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome". Nat. Genet . 22 (2): 175–7. doi : 10.1038/9691 . ... "Long-term efficacy and safety of Canakinumab in active Hyper-IgD syndrome (HIDS): results from an open-label study" . ... "Treatment with anakinra in the hyperimmunoglobulinemia D/periodic fever syndrome". Rheumatol. Int . 27 (1): 97–100. doi : 10.1007/s00296-006-0164-x .
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Severe Congenital Neutropenia
Wikipedia
Severe congenital neutropenia Other names Kostmann disease, Kostmann's agranulocytosis, Kostmann's syndrome, congenital agranulocytosis, congenital neutropenia, permanent neutropenia, infantile genetic agranulocytosis, severe infantile genetic neutropenia Specialty Hematology Usual onset Infancy [1] Types SCN1-SCN5, SCNX Causes Mutation in genes, depending on type [1] Diagnostic method Blood test , genetic testing [1] Treatment G-CSF , HSCT [1] Medication Filgrastim [1] Frequency 2-3 in million (2018) [1] Severe congenital neutropenia ( SCN ), also often known as Kostmann syndrome or disease , is a group of rare disorders that affect myelopoiesis , causing a congenital form of neutropenia , usually without other physical malformations. ... Thus SCN excludes the severe neutropenia which can occur in congenital diseases such as Shwachman–Diamond syndrome , Barth syndrome , Chédiak–Higashi syndrome , WHIM syndrome , and glycogen storage disease type Ib. [19] A further group of other miscellaneous inherited disorders, such as hyper IgM syndrome , Hermansky–Pudlak syndrome (HPS), Griscelli syndrome (GS), PN, P14 deficiency, Cohen syndrome , Charcot–Marie–Tooth disease (CMT) can show congenital neutropenia, but lack bone marrow findings typical of SCN. ... This neutropenia is typically mild, often persists for years, and therefore is not a Kostmann syndrome disorder. Over time, however, the deficiency commonly progresses to include thrombocytopenia , increases susceptibility to infections due to, e.g. atypical mycobacteria or human papillomavirus , dysfunction of non-hematological organs, the myelodysplastic syndrome , and/or a leukemia , particularly acute myelogenous leukemia . [20] [21] [22] Pathophysiology [ edit ] The various mutations may be responsible for the untimely initiation of apoptosis in myelocytes, producing their premature destruction. ... Johns Hopkins University. [2] ^ a b Zeidler C, Welte K (2002). "Kostmann syndrome and severe congenital neutropenia". ... External links [ edit ] Search for Neutropenia to see on-going projects at Orphanet Severe Congenital Neutropenia (SCN) of Inherited Bone Marrow Failure Syndromes (IBMFS) Severe congenital neutropenia at NIH 's Office of Rare Diseases Classification D ICD - 10 : D70 ICD - 9-CM : 288.01 OMIM : 202700 613107 610738 612541 615285 300299 MeSH : C537592 DiseasesDB : 29519 External resources eMedicine : ped/1260 Orphanet : 99749 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 deficiencyHAX1, VPS45, DDX41, GFI1, CSF3R, JAGN1, ELANE, G6PC3, CSF3, CD34, LEF1, STAT5B, G6PC, GATA2, STAT5A, RPS19, CSF1R, SRI, AKT1, TCIRG1, WAS, CDK2AP2, SUB1, RPP14, LAMTOR2, SF3B6, S100A9, H3P8, CSF2, CDKN2A, HCLS1, CAMP, IL1B, RUNX1T1, CHD2, CEBPB, CD40LG, CD33, RUNX1, HUWE1, BCL2, CLPB, ATP2A2, WNT3A, ARHGDIB, VPS13B, NAMPT, NR0B2, IL3, KAT6A, CXCR2, KIT, LCN2, ARHGDIA, PTPN6, PTPN11, RAC2, IL1A, HOXB8, SCN1A, SLPI, SLC37A4, DECR1, TP53, CTNNB1, LTF
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Median Nerve Palsy
Wikipedia
To relieve symptoms, patients may describe a motion similar to "shaking a thermometer", another indication of CTS. [12] Pronator teres syndrome (also known as pronator syndrome) is compression of the median nerve between the two heads of the pronator teres muscle . [13] The Pronator teres test is an indication of the syndrome—the patient reports pain when attempting to pronate the forearm against resistance while extending the elbow simultaneously. ... Tinel's sign the area around the pronator teres heads should be positive. [ clarification needed ] The key to discerning this syndrome from carpal tunnel syndrome is the absence of pain while sleeping. [14] More recent literature collectively diagnose median nerve palsy occurring from the elbow to the forearm as pronator teres syndrome. [15] In uncooperative patients, the skin wrinkle test offers a pain-free way to identify denervation of the fingers. ... ] ^ Simon, Harvey (May 26, 2012). "Carpal tunnel syndrome" . A.D.A.M., Inc. ^ Wheeless, Clifford R. (December 15, 2011). "Pronator teres compression syndrome - median nerve compression" . Wheeless' Textbook of Orthopaedics . ... External links [ edit ] Classification D ICD - 10 : GroupMajor.minor ICD - 9-CM : xxx v t e Diseases relating to the peripheral nervous system Mononeuropathy Arm median nerve Carpal tunnel syndrome Ape hand deformity ulnar nerve Ulnar nerve entrapment Froment's sign Ulnar tunnel syndrome Ulnar claw radial nerve Radial neuropathy Wrist drop Cheiralgia paresthetica long thoracic nerve Winged scapula Backpack palsy Leg lateral cutaneous nerve of thigh Meralgia paraesthetica tibial nerve Tarsal tunnel syndrome plantar nerve Morton's neuroma superior gluteal nerve Trendelenburg's sign sciatic nerve Piriformis syndrome Cranial nerves See Template:Cranial nerve disease Polyneuropathy and Polyradiculoneuropathy HMSN Charcot–Marie–Tooth disease Dejerine–Sottas disease Refsum's disease Hereditary spastic paraplegia Hereditary neuropathy with liability to pressure palsy Familial amyloid neuropathy Autoimmune and demyelinating disease Guillain–Barré syndrome Chronic inflammatory demyelinating polyneuropathy Radiculopathy and plexopathy Brachial plexus injury Thoracic outlet syndrome Phantom limb Other Alcoholic polyneuropathy Other General Complex regional pain syndrome Mononeuritis multiplex Peripheral neuropathy Neuralgia Nerve compression syndrome
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Hemorrhagic Shock And Encephalopathy Syndrome
Gard
Hemorrhagic shock and encephalopathy syndrome (HSES) is a rare disease that occurs suddenly in previously healthy children.
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Ichthyosis-Mental Retardation Syndrome With Large Keratohyalin Granules In The Skin
Omim
The histologic finding in the skin biopsy of unusually large oval keratohyalin granules in the granular cells was unique, and had hitherto not been reported in other ichthyosis-mental retardation syndromes. INHERITANCE - Autosomal recessive SKIN, NAILS, & HAIR Skin - Generalized ichthyosis Skin Histology - Unusually large oval keratohyalin granules in granular cells NEUROLOGIC Central Nervous System - Mental retardation ▲ Close
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46,xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Orphanet
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome is a rare, genetic, developmental defect during embryogenesis disorder characterized by partial (unilateral testis, persistence of Müllerian duct structures) or complete (streak gonads only) gonadal dysgenesis, usually manifesting with primary amenorrhea in individuals with female phenotype but 46,XY karyotype, and sensorimotor dysmyelinating minifascicular polyneuropathy, which presents with numbness, weakness, exercise-induced muscle cramps, sensory disturbances and reduced/absent deep tendon reflexes.
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Schimke X-Linked Mental Retardation Syndrome
Omim
Schimke et al. (1984) reported 4 boys (3 in 1 family) with a remarkably consistent syndrome of childhood-onset choreoathetosis with later spasticity, postnatal microcephaly, growth and mental retardation, apparent external ophthalmoplegia, and varying degrees of deafness.
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Widow's Peak
Omim
Widow's peak occurs also in Aarskog syndrome (305400; Berman et al., 1974) and in the simulating faciodigitogenital syndrome (227330). It has also been described in Opitz-Frias syndrome (145410), in the Waardenburg syndrome (193500), in frontonasal dysplasia (136760), and in craniofrontonasal dysplasia (304110).
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Grin2b Related Syndrome
Gard
GRIN2B related syndrome is a genetic disorder that causes developmental delay and intellectual disability.
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Ring Chromosome 16 Syndrome
Orphanet
Ring chromosome 16 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of chromosome 16, characterized by pre- and postnatal growth delay, severe developmental delay, intellectual disability, speech delay, and craniofacial dysmorphism (e.g. microcephaly, hypertelorism, downslanted palpebral fissures, ptosis, telecantus, low set and dysmorphic ears, broad flat nasal bridge, down-turned mouth corners, high palate, retrognathia).
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Larsen-Like Syndrome, B3gat3 Type
Orphanet
Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations.
- Multiple Mitochondrial Dysfunctions Syndrome Orphanet
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Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Orphanet
This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis (see this term).
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Hereditary Gastric Cancer
Orphanet
Hereditary gastric cancer can also occur in other hereditary cancer syndromes such as Lynch syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis and juvenile polyposis syndrome (see these terms).
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Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Orphanet
Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age.
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Foveal Hypoplasia-Optic Nerve Decussation Defect-Anterior Segment Dysgenesis Syndrome
Orphanet
Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome is a rare, genetic, eye disease characterized by foveal hypoplasia, optic nerve misrouting with an increased number of axons decussating at the optic chiasm and innervating the contralateral cortex, and posterior embryotoxon or Axenfeld anomaly (indicating anterior segment dysgenesis), in the absence of albinism.
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Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Orphanet
Hypotonia-speech impairment-severe cognitive delay syndrome is a rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive.
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Congenital Microcephaly-Severe Encephalopathy-Progressive Cerebral Atrophy Syndrome
Orphanet
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome is a rare, genetic, neurometabolic disorder characterized by severe, progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia, and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia, and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomeglay, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination).
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Acute Myeloid Leukemia And Myelodysplastic Syndromes Related To Topoisomerase Type 2 Inhibitor
Orphanet
This subgroup of t-MN is typically associated with overt leukemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement.