While not much is known about this disorder, it has been characterized to be similar to Parsonage-Turner syndrome in prognosis. [2] Contents 1 Symptoms 1.1 Presentation 2 Diagnosis 3 Treatment 4 See also 5 References 6 External links Symptoms [ edit ] Symptoms of HNA may include pain in the back, neck, arms, or shoulders, nerve pulls in the arms or back, muscular atrophy, and weakness. [2] Presentation [ edit ] HNA is an episodic disorder; it is characterized by episodes generally lasting 1–6 weeks. ... However, in a severe case permanent nerve damage and muscle loss may occur. [2] See also [ edit ] Parsonage Turner Syndrome , known as Neuralgic Amyotrophy References [ edit ] ^ van Alfen N (June 2007). ... PMID 17446996 . ^ a b c d Online Mendelian Inheritance in Man (OMIM): Amyotrophy, Hereditary Neuralgic; Hna - 162100 External links [ edit ] Classification D ICD - 10 : G54.5 ICD - 9-CM : 353.5 OMIM : 162100 DiseasesDB : 33458 External resources GeneReviews : Hereditary Neuralgic Amyotrophy GeneReview/NIH/UW entry on Hereditary Neuralgic Amyotrophy Neuralgic Amyotrophy: idiopathic and hereditary form 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
A more common sporadic form of painful brachial plexus neuropathy, called Parsonage-Turner syndrome, is clinically indistinguishable from HNA. ... Laccone et al. (2008) emphasized that wider recognition of the characteristic dysmorphic features of HNA can facilitate clinical diagnosis of this syndrome. Diagnosis Kuhlenbaumer et al. (2000) presented diagnostic guidelines for HNA, as reported on behalf of the European CMT Consortium.
NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form. Epidemiology The minimum incidence of NA is estimated at 1/50,000-1/30,000 but under recognition and initial misdiagnosis is common. ... Diagnostic methods Diagnosis is based on the typical clinical features and the exclusion of other disorders (ex. neuroborreliosis, cervical radiculopathy or Pancoast syndrome) using laboratory tests, electromyography and imaging of the cervical spine and brachial plexus.
Parsonage Turner syndrome (PTS) is characterized by the sudden onset of shoulder and upper arm pain followed by progressive (worsening over time) weakness and/or atrophy of the affected area. ... The network of nerves involved in this syndrome is called the brachial plexus and it controls movement and sensation in the shoulders and arms.
Description Oculoectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenita. ... Martin et al. (2007) suggested that arachnoid cyst may be a phenotypic feature of the syndrome. Federici et al. (2004) reported a patient with oculoectodermal syndrome who developed giant cell granulomas of the jaw. They reviewed the findings in 10 reported patients and suggested that the development of giant cell granulomas in childhood is part of what they referred to as a new tumor predisposition syndrome. Ardinger et al. (2007) reported 2 new cases and reviewed 13 previously reported cases of oculoectodermal syndrome. ... Epibulbar dermoids occur with Goldenhar syndrome (164210) and with Proteus syndrome (176920). Aplasia cutis congenita occurs as an isolated defect (107600) or in association with gastrointestinal atresia in Carmi syndrome (226730), with limb defects in Adams-Oliver syndrome (100300), and with other associated abnormalities (see 302803, 100300, and 207731).
External links [ edit ] Classification D OMIM : 266140 MeSH : C563004 C563004, C563004 v t e Cytoskeletal defects Microfilaments Myofilament Actin Hypertrophic cardiomyopathy 11 Dilated cardiomyopathy 1AA DFNA20 Nemaline myopathy 3 Myosin Elejalde syndrome Hypertrophic cardiomyopathy 1, 8, 10 Usher syndrome 1B Freeman–Sheldon syndrome DFN A3, 4, 11, 17, 22; B2, 30, 37, 48 May–Hegglin anomaly Troponin Hypertrophic cardiomyopathy 7, 2 Nemaline myopathy 4, 5 Tropomyosin Hypertrophic cardiomyopathy 3 Nemaline myopathy 1 Titin Hypertrophic cardiomyopathy 9 Other Fibrillin Marfan syndrome Weill–Marchesani syndrome Filamin FG syndrome 2 Boomerang dysplasia Larsen syndrome Terminal osseous dysplasia with pigmentary defects IF 1/2 Keratinopathy ( keratosis , keratoderma , hyperkeratosis ): KRT1 Striate palmoplantar keratoderma 3 Epidermolytic hyperkeratosis IHCM KRT2E ( Ichthyosis bullosa of Siemens ) KRT3 ( Meesmann juvenile epithelial corneal dystrophy ) KRT4 ( White sponge nevus ) KRT5 ( Epidermolysis bullosa simplex ) KRT8 ( Familial cirrhosis ) KRT10 ( Epidermolytic hyperkeratosis ) KRT12 ( Meesmann juvenile epithelial corneal dystrophy ) KRT13 ( White sponge nevus ) KRT14 ( Epidermolysis bullosa simplex ) KRT17 ( Steatocystoma multiplex ) KRT18 ( Familial cirrhosis ) KRT81 / KRT83 / KRT86 ( Monilethrix ) Naegeli–Franceschetti–Jadassohn syndrome Reticular pigmented anomaly of the flexures 3 Desmin : Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I GFAP : Alexander disease Peripherin : Amyotrophic lateral sclerosis 4 Neurofilament : Parkinson's disease Charcot–Marie–Tooth disease 1F, 2E Amyotrophic lateral sclerosis 5 Laminopathy : LMNA Mandibuloacral dysplasia Dunnigan Familial partial lipodystrophy Emery–Dreifuss muscular dystrophy 2 Limb-girdle muscular dystrophy 1B Charcot–Marie–Tooth disease 2B1 LMNB Barraquer–Simons syndrome LEMD3 Buschke–Ollendorff syndrome Osteopoikilosis LBR Pelger–Huet anomaly Hydrops-ectopic calcification-moth-eaten skeletal dysplasia Microtubules Kinesin Charcot–Marie–Tooth disease 2A Hereditary spastic paraplegia 10 Dynein Primary ciliary dyskinesia Short rib-polydactyly syndrome 3 Asphyxiating thoracic dysplasia 3 Other Tauopathy Cavernous venous malformation Membrane Spectrin : Spinocerebellar ataxia 5 Hereditary spherocytosis 2, 3 Hereditary elliptocytosis 2, 3 Ankyrin : Long QT syndrome 4 Hereditary spherocytosis 1 Catenin APC Gardner's syndrome Familial adenomatous polyposis plakoglobin ( Naxos syndrome ) GAN ( Giant axonal neuropathy ) Other desmoplakin : Striate palmoplantar keratoderma 2 Carvajal syndrome Arrhythmogenic right ventricular dysplasia 8 plectin : Epidermolysis bullosa simplex with muscular dystrophy Epidermolysis bullosa simplex of Ogna plakophilin : Skin fragility syndrome Arrhythmogenic right ventricular dysplasia 9 centrosome : PCNT ( Microcephalic osteodysplastic primordial dwarfism type II ) Related topics: Cytoskeletal proteins v t e Medicine Specialties and subspecialties 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Commons Wikiproject Portal Outline This article about a disease of the blood or immune system is a stub .
A number sign (#) is used with this entry because hereditary pyropoikilocytosis can be caused by mutation in the alpha-spectrin (182860) or the beta-spectrin gene (182870). Description Hereditary pyropoikilocytosis was originally described by Zarkowsky et al. (1975) as a distinct hemolytic anemia characterized by microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells. HPP is a subset of hereditary elliptocytosis (see 611804) due to homozygous or compound heterozygous mutations in spectrin leading to severe disruption of spectrin self-association (review by An and Mohandas, 2008). Clinical Features Liu et al. (1981) studied 2 patients from unrelated black families. Both had a history of hemolytic anemia since birth (Palek et al., 1981).
A number sign (#) is used with this entry because of evidence that Huriez syndrome (HRZ) is caused by heterozygous mutation in the SMARCAD1 gene (612761) on chromosome 4q22. Mutation in the SMARCAD1 gene can also cause phenotypes with features overlapping those of Huriez syndrome, including Basan syndrome (BASAN; 129200) and isolated adermatoglyphia (ADERM; 136000). ... Malignant degeneration of affected skin is a distinctive feature of the syndrome. A high mortality rate for this type of skin cancer has also been reported. Hamm et al. (1996) reported the first German family with Huriez syndrome, in which there were 13 affected members over 5 generations. ... SCC in Huriez syndrome has an early onset, mostly in the third to fourth decade, and early metastasis formation (Hamm et al., 1996).
A rare genetic skin disease characterized by the triad of congenital scleroatrophy predominantly of the hands with sclerodactyly, palmoplantar keratoderma, and nail changes (consisting of hypoplasia, ridging, clubbing, and white discoloration). Additional features include palmar hypohidrosis and a high susceptibility to early-onset squamous cell carcinoma of affected skin areas.
Overview Diabetes insipidus (die-uh-BEE-teze in-SIP-uh-dus) is an uncommon problem that causes the fluids in the body to become out of balance. That prompts the body to make large amounts of urine. It also causes a feeling of being very thirsty even after having something to drink. Diabetes insipidus also is called arginine vasopressin deficiency and arginine vasopressin resistance. While the terms "diabetes insipidus" and "diabetes mellitus" sound alike, the two conditions are not connected. Diabetes mellitus involves high blood sugar levels. It's a common condition, and it's often called simply diabetes.
Clinical Features David (1973) described a family, with the surname Nelson, in which a novel dermatoglyphic syndrome occurred in a mother and 3 of her children. ... Mapping David et al. (1973) performed linkage analysis in the family with Nelson syndrome and found a low positive lod score with the Duffy blood group locus (FY; 110700).
Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life).
A rare, genetic, polymalformative syndrome characterized by a Noonan-like phenotype associated with increased risk of developing juvenile myelomonocytic leukemia (JMML). ... Leukemia can be the only clinical manifestation of the syndrome.
A number sign (#) is used with this entry because Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia is caused by heterozygous mutation in the CBL gene (165360). For a general phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (163950). Description Noonan syndrome-like disorder is a developmental disorder resembling Noonan syndrome (NS1; 163950) and characterized by facial dysmorphism, a wide spectrum of cardiac disease, reduced growth, variable cognitive deficits, and ectodermal and musculoskeletal anomalies. ... Clinical Features Martinelli et al. (2010) reported 4 unrelated probands, including 1 who met the diagnostic criteria for NS and 3 who had a phenotype reminiscent of Noonan syndrome, but without fulfilling the complete diagnostic criteria. ... In 3 unrelated patients with a Noonan syndrome-like disorder with juvenile myelomonocytic leukemia, Perez et al. (2010) identified a heterozygous germline mutation in the CBL gene (Y371H; 165360.0005). ... Perez et al. (2010) suggested the moniker 'CBL syndrome.' Pathogenesis Loh et al. (2009) reported 3 patients who presented with JMML who had a heterozygous germline CBL mutation, whereas their tumor cells had homozygous mutations.
Superior semicircular canal dehiscence syndrome is a rare balance disorder characterized by auditory and/or vestibular symptoms. ... While many patients with superior semicircular canal dehiscence syndrome are able to tolerate their symptoms and reduce or avoid triggering stimuli, others can benefit from surgical repair of the dehiscence.
Superior canal dehiscence syndrome Other names SSCDS Specialty Neurology Superior semicircular canal dehiscence syndrome is a set of hearing and balance symptoms, related to a rare medical condition of the inner ear , known as superior canal dehiscence . [1] [2] [3] The symptoms are caused by a thinning or complete absence of the part of the temporal bone overlying the superior semicircular canal of the vestibular system . ... "Symptoms and Signs in Superior Canal Dehiscence Syndrome". Annals of the New York Academy of Sciences . 942 (1): 259–273. ... PMID 15314139 . ^ "Symptoms of Superior Canal Dehiscence Syndrome" . Johns Hopkins Medicine . ^ Wackym, P. ... PMID 31920911 . ^ "superior semicircular canal dehiscence - superior canal dehiscence syndrome" . www.otosurgery.org . [ unreliable source? ... External links [ edit ] Ward, Bryan K.; Carey, John P.; Minor, Lloyd B. (28 April 2017). "Superior Canal Dehiscence Syndrome: Lessons from the First 20 Years" .
Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia.
A number sign (#) is used with this entry because of evidence that Temple-Baraitser syndrome (TMBTS) is caused by heterozygous mutation in the KCNH1 gene (603305) on chromosome 1q32. Description Temple-Baraitser syndrome is a rare developmental disorder characterized by severe mental retardation and anomalies of the first ray of the upper and lower limbs with absence/hypoplasia of the nails. ... Both Temple and Baraitser (1991) and Gabbett et al. (2008) noted some phenotypic similarities to DOOR syndrome (220500), but neither patient had deafness. Jacquinet et al. (2010) reported 2 unrelated girls with a phenotype consistent with Temple-Baraitser syndrome. One was born of unrelated Algerian parents and the other of unrelated Chinese parents. ... Karyotype revealed 47,XXY, consistent with Klinefelter syndrome. Simons et al. (2015) reported 2 unrelated girls with TMBTS.
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia), and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip, and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth.
GATAD2B -associated neurodevelopmental disorder (GAND) affects the way the brain develops. Symptoms of GAND include moderate to severe intellectual disability, poor speech development, and large head size. Other signs and symptoms may include low muscle tone in children (childhood hypotonia), feeding problems, heart problems and shared facial features. Because so few cases have been described in the medical literature, it is difficult to know how this condition changes over time. GAND is caused by a GATAD2B gene that is absent or not working correctly.
A number sign (#) is used with this entry because autosomal dominant mental retardation-18 (MRD18) is caused by heterozygous mutation in the GATAD2B gene (614998) on chromosome 1q21. Description Autosomal dominant mental retardation-18 is characterized by severe intellectual disability, limited language development, motor delay, and dysmorphic features, including hypertelorism and narrow palpebral fissures (summary by Luo et al., 2017). Clinical Features De Ligt et al. (2012) reported a girl (patient 69) with global developmental delay who learned to walk at 3 years and had a few single words at age 8. She had tics, high pain threshold, and hypoplasia of the optic nerve. At 34 years of age, she had severe intellectual disability and strabismus and made grimaces.
Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome is a rare, genetic, congenital limb malformation syndrome characterized by bilateral short broad thumbs, short deviated index fingers, clinodactyly of the fifth fingers, broad, valgus-deviated halluces and laterally-deviated, overlapping second toe, associated with severe pectus excavatum and craniofacial dysmorphism (including brachycephaly, low anterior hairline, flat supraorbital ridges, telecanthus, upslanting palpebral fissures, maxillary hypoplasia, posteriorly rotated ears, microsomia and micrognathia).
Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome is a rare, genetic, central nervous system malformation syndrome characterized by congenital, progressive microcephaly, neonatal to infancy-onset of severe, intractable seizures, and diffuse cerebral cortex and cerebellar vermis atrophy with mild cerebellar hemisphere atrophy, associated with profound global developmental delay.
A number sign (#) is used with this entry because progressive microcephaly with seizures and cerebral and cerebellar atrophy (MSCCA) is caused by compound heterozygous mutation in the QARS gene (QARS1; 603727) on chromosome 3p21. Description Progressive microcephaly with seizures and cerebral and cerebellar atrophy is a severe autosomal recessive neurodevelopmental and neurodegenerative disorder with onset in the first days or months of life. Patients are born with microcephaly and soon develop intractable seizures, resulting in profoundly delayed development and hypotonia (summary by Zhang et al., 2014). Clinical Features Zhang et al. (2014) reported 4 children from 2 unrelated families who presented at birth with sloping forehead and microcephaly. All showed profound developmental delay and progressive microcephaly (in 1 patient, -10 SD) in the first years of life.
Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation).
This disorder and that discussed in 225050 may be X-linked and may represent a contiguous gene syndrome. Radiology - Absent normal thyroid and ectopic goiter on technetium 99 thyroid scintigram Neuro - Severe mental retardation - Agenesis of corpus callosum Inheritance - Autosomal recessive vs. X-linked - ? contiguous gene syndrome Lab - Low T3 and T4 - Elevated TSH Skin - Hypohidrotic ectodermal dysplasia Endo - Primary hypothyroidism ▲ Close
Pigmented hairy epidermal nevus syndrome is a cutaneous condition characterized by a Becker nevus , ipsilateral hypoplasia of the breast , and skeletal defects such as scoliosis . [1] : 635 [2] : 776 See also [ edit ] Epidermal nevus syndrome Skin lesion List of cutaneous conditions References [ edit ] ^ James, William; Berger, Timothy; Elston, Dirk (2005).
Stewart Treves syndrome is a rare angiosarcoma that develops in people with long-standing lymphedema . ... The exact underlying cause of the condition is poorly understood. Although Stewart Treves syndrome is always associated with long-standing lymphedema, other unknown factors also appear to contribute to the development of the condition.