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Radial Ray Hypoplasia-Choanal Atresia Syndrome
Orphanet
An extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus.
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Gingival Fibromatosis-Facial Dysmorphism Syndrome
Orphanet
A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism.
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Peeling Skin Syndrome
Orphanet
Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis (see this term) that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis.
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X-Linked Epilepsy-Learning Disabilities-Behavior Disorders Syndrome
Orphanet
X-linked epilepsy-learning disabilities-behavior disorders syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour.
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Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Orphanet
A rare syndromic agammaglobulinemia characterized by profound B-cell depletion (with normal T-cell numbers) resulting in agammaglobulinemia, associated with severe developmental delay, microcephaly, craniosynostosis, cleft palate, narrowing of the choanae, blepharophimosis, and severe dermatitis.
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Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Orphanet
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy.
- Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome Orphanet
- X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome Orphanet
- Classical-Like Ehlers-Danlos Syndrome Type 1 Orphanet
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Periodic Paralysis With Transient Compartment-Like Syndrome
Orphanet
Periodic paralysis with transient compartment-like syndrome is a rare, genetic, neuromuscular disease characterized by normokalemic episodes of painful muscle cramping followed by progressive, permanent, flaccid weakness, triggered by stress, cold and exercise, associated with myopathic myopathy and painful acute edema with neuronal compression, foot drop and muscle degeneration when located in the tibialis anterior muscle group.
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Becker Muscular Dystrophy
Wikipedia
External links [ edit ] Becker muscular dystrophy at Curlie Classification D ICD - 10 : G71.0 ICD - 9-CM : 359.1 OMIM : 300376 DiseasesDB : 1280 External resources MedlinePlus : 000706 eMedicine : pmr/14 Patient UK : Becker muscular dystrophy Scholia has a topic profile for Becker muscular dystrophy . v t e Muscular dystrophy Types Congenital Dystrophinopathy Becker's Duchenne Distal Emery-Dreifuss Facioscapulohumeral Limb-girdle muscular dystrophy Calpainopathy Myotonic Oculopharyngeal National/International Organizations Muscular Dystrophy Association (USA) Muscular Dystrophy Canada Myotonic Dystrophy Foundation Muskelsvindfonden (Denmark) National/International Events MDA Muscle Walk (USA) Labor Day Telethon (defunct; USA/Canada) Décrypthon (France) Grøn Koncert (Denmark) Clinical trials Stamulumab (MYO-029) Category v t e X-linked disorders X-linked recessive Immune Chronic granulomatous disease (CYBB) Wiskott–Aldrich syndrome X-linked severe combined immunodeficiency X-linked agammaglobulinemia Hyper-IgM syndrome type 1 IPEX X-linked lymphoproliferative disease Properdin deficiency Hematologic Haemophilia A Haemophilia B X-linked sideroblastic anemia Endocrine Androgen insensitivity syndrome / Spinal and bulbar muscular atrophy KAL1 Kallmann syndrome X-linked adrenal hypoplasia congenita Metabolic Amino acid : Ornithine transcarbamylase deficiency Oculocerebrorenal syndrome Dyslipidemia : Adrenoleukodystrophy Carbohydrate metabolism : Glucose-6-phosphate dehydrogenase deficiency Pyruvate dehydrogenase deficiency Danon disease/glycogen storage disease Type IIb Lipid storage disorder : Fabry's disease Mucopolysaccharidosis : Hunter syndrome Purine–pyrimidine metabolism : Lesch–Nyhan syndrome Mineral : Menkes disease / Occipital horn syndrome Nervous system X-linked intellectual disability : Coffin–Lowry syndrome MASA syndrome Alpha-thalassemia mental retardation syndrome Siderius X-linked mental retardation syndrome Eye disorders: Color blindness (red and green, but not blue) Ocular albinism ( 1 ) Norrie disease Choroideremia Other: Charcot–Marie–Tooth disease (CMTX2-3) Pelizaeus–Merzbacher disease SMAX2 Skin and related tissue Dyskeratosis congenita Hypohidrotic ectodermal dysplasia (EDA) X-linked ichthyosis X-linked endothelial corneal dystrophy Neuromuscular Becker's muscular dystrophy / Duchenne Centronuclear myopathy (MTM1) Conradi–Hünermann syndrome Emery–Dreifuss muscular dystrophy 1 Urologic Alport syndrome Dent's disease X-linked nephrogenic diabetes insipidus Bone / tooth AMELX Amelogenesis imperfecta No primary system Barth syndrome McLeod syndrome Smith–Fineman–Myers syndrome Simpson–Golabi–Behmel syndrome Mohr–Tranebjærg syndrome Nasodigitoacoustic syndrome X-linked dominant X-linked hypophosphatemia Focal dermal hypoplasia Fragile X syndrome Aicardi syndrome Incontinentia pigmenti Rett syndrome CHILD syndrome Lujan–Fryns syndrome Orofaciodigital syndrome 1 Craniofrontonasal dysplasia v t e Diseases of muscle , neuromuscular junction , and neuromuscular disease Neuromuscular- junction disease autoimmune Myasthenia gravis Lambert–Eaton myasthenic syndrome Neuromyotonia Myopathy Muscular dystrophy ( DAPC ) AD Limb-girdle muscular dystrophy 1 Oculopharyngeal Facioscapulohumeral Myotonic Distal (most) AR Calpainopathy Limb-girdle muscular dystrophy 2 Congenital Fukuyama Ullrich Walker–Warburg XR dystrophin Becker's Duchenne Emery–Dreifuss Other structural collagen disease Bethlem myopathy PTP disease X-linked MTM adaptor protein disease BIN1-linked centronuclear myopathy cytoskeleton disease Nemaline myopathy Zaspopathy Channelopathy Myotonia Myotonia congenita Thomsen disease Neuromyotonia / Isaacs syndrome Paramyotonia congenita Periodic paralysis Hypokalemic Thyrotoxic Hyperkalemic Other Central core disease Mitochondrial myopathy MELAS MERRF KSS PEO General Inflammatory myopathy Congenital myopathy
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Desmosterolosis
Wikipedia
"Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes" . Hum. Mol. Genet . 12 Spec No 1 (90001): R75–88. doi : 10.1093/hmg/ddg072 . ... External links [ edit ] Classification D ICD - 10 : Q87.8 OMIM : 602398 MeSH : C566555 External resources Orphanet : 35107 v t e Inborn errors of steroid metabolism Mevalonate pathway HMG-CoA lyase deficiency Hyper-IgD syndrome Mevalonate kinase deficiency To cholesterol 7-Dehydrocholesterol path: Hydrops-ectopic calcification-moth-eaten skeletal dysplasia CHILD syndrome Conradi-Hünermann syndrome Lathosterolosis Smith–Lemli–Opitz syndrome desmosterol path: Desmosterolosis Steroids Corticosteroid (including CAH ) aldosterone : Glucocorticoid remediable aldosteronism cortisol / cortisone : CAH 17α-hydroxylase CAH 11β-hydroxylase both: CAH 3β-dehydrogenase CAH 21-hydroxylase Apparent mineralocorticoid excess syndrome/11β-dehydrogenase Sex steroid To androgens 17α-Hydroxylase deficiency 17,20-Lyase deficiency Cytochrome b 5 deficiency 3β-Hydroxysteroid dehydrogenase deficiency 17β-Hydroxysteroid dehydrogenase deficiency 5α-Reductase deficiency Pseudovaginal perineoscrotal hypospadias To estrogens Aromatase deficiency Aromatase excess syndrome Other X-linked ichthyosis Antley–Bixler syndrome This article about an endocrine, nutritional, or metabolic disease is a stub .
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Sener Syndrome
Omim
Sener (1994) described this as a distinct neurocutaneous syndrome. Lynch et al. (2000) described 2 children who they believed had the same condition as that described by Sener (1994). ... He noted considerable overlap between the cases and suggested that they represent a syndrome, called the cerebrofrontofacial syndrome, that is comprised of 3 types based on brain MRI findings. ... Verloes et al. (2015) suggested that types 1 and 3 are the same as Baraitser-Winter syndrome (see 243310); type 2 corresponds with Sener syndrome.
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Advanced Sleep Phase Syndrome, Familial, 1
Omim
A number sign (#) is used with this entry because of evidence that familial advanced sleep phase syndrome-1 (FASPS1) is caused by heterozygous mutation in the PER2 (603426) gene on chromosome 2q37. ... Description Advanced sleep phase syndrome is characterized by very early sleep onset and offset (summary by Jones et al., 1999). Genetic Heterogeneity of Advanced Sleep Phase Syndrome See also FASPS2 (615224), caused by mutation in the CSNK1D gene (600864) on chromosome 17q25, and FASPS3 (616882), caused by mutation in the PER3 gene (603427) on chromosome 1p36. Clinical Features Advanced sleep phase syndrome is characterized by very early sleep onset and offset. ... Using strict classification criteria, they identified 29 individuals with familial advanced sleep phase syndrome (FASPS) and 46 unaffected individuals in 3 families.
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Nephrogenic Syndrome Of Inappropriate Antidiuresis
Omim
A number sign (#) is used with this entry because of evidence that nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is caused by gain-of-function mutations in the gene encoding the vasopressin V2 receptor (AVPR2; 300538) on chromosome Xq28. ... Loss-of-function mutations in the AVPR2 gene result in X-linked nephrogenic diabetes insipidus (NDI; 304800). Description The syndrome of inappropriate antidiuretic hormone secretion (SIADH) is a common cause of hyponatremia. The syndrome manifests as an inability to excrete a free water load, with inappropriately concentrated urine and resultant hyponatremia, hypoosmolality, and natriuresis. ... Subsequently, radioimmunoassays revealed that SIADH is usually associated with measurably elevated serum levels of AVP. Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is characterized by a clinical picture similar to SIADH, but is associated with undetectable levels of AVP (Feldman et al., 2005). ... Feldman et al. (2005) concluded that the R137C and R137L mutations caused constitutive activation of the receptor and were the likely cause of the patients' SIADH-like clinical picture, which they termed 'nephrogenic syndrome of inappropriate antidiuresis.'
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Epidural Abscess
Wikipedia
Classification D MeSH : D020802 External resources MedlinePlus : 001416 article/232570 at eMedicine v t e Focal lesions of the spinal cord General Myelopathy Myelitis Spinal cord compression By location Brown-Séquard syndrome Posterior cord syndrome Anterior cord syndrome Central cord syndrome Cauda equina syndrome Other Polio Demyelinating disease Transverse myelitis Tropical spastic paraparesis Epidural abscess Syringomyelia Syringobulbia Morvan's syndrome Sensory ataxia Tabes dorsalis Abadie's sign Subacute combined degeneration of spinal cord Vascular myelopathy Anterior spinal artery syndrome Foix–Alajouanine syndrome
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Crisponi/cold-Induced Sweating Syndrome 3
Omim
A number sign (#) is used with this entry because of evidence that Crisponi/cold-induced sweating syndrome-3 (CISS3) is caused by homozygous mutation in the KLHL7 gene (611119) on chromosome 7p15. ... Description Crisponi/cold-induced sweating syndrome-3 is an autosomal recessive disorder characterized by infantile-onset hyperthermia and abnormal paroxysmal contractions of the facial and oropharyngeal muscles, resulting in feeding and respiratory difficulties. ... Individuals with some forms of Crisponi syndrome may develop paradoxical cold-induced sweating later in childhood, although this is a variable finding (summary by Angius et al., 2016). For a discussion of genetic heterogeneity of Crisponi/cold-induced sweating syndrome, see CISS1 (272430). Clinical Features Angius et al. (2016) reported 5 patients from 4 unrelated consanguineous Turkish families with a phenotype reminiscent of Crisponi syndrome.
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Coxa Valga
Wikipedia
See also [ edit ] Coxa vara Genu valgum Genu varum References [ edit ] External links [ edit ] Classification D ICD - 10 : M21.0 , Q65.8 ICD - 9-CM : 736.31 , 755.61 MeSH : D060906 DiseasesDB : 34851 v t e Acquired musculoskeletal deformities Upper limb shoulder Winged scapula Adhesive capsulitis Rotator cuff tear Subacromial bursitis elbow Cubitus valgus Cubitus varus hand deformity Wrist drop Boutonniere deformity Swan neck deformity Mallet finger Lower limb hip Protrusio acetabuli Coxa valga Coxa vara leg Unequal leg length patella Luxating patella Chondromalacia patellae Patella baja Patella alta foot deformity Bunion/hallux valgus Hallux varus Hallux rigidus Hammer toe Foot drop Flat feet Club foot knee Genu recurvatum Head Cauliflower ear General terms Valgus deformity / Varus deformity Joint stiffness Ligamentous laxity v t e Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality Appendicular limb / dysmelia Arms clavicle / shoulder Cleidocranial dysostosis Sprengel's deformity Wallis–Zieff–Goldblatt syndrome hand deformity Madelung's deformity Clinodactyly Oligodactyly Polydactyly Leg hip Hip dislocation / Hip dysplasia Upington disease Coxa valga Coxa vara knee Genu valgum Genu varum Genu recurvatum Discoid meniscus Congenital patellar dislocation Congenital knee dislocation foot deformity varus Club foot Pigeon toe valgus Flat feet Pes cavus Rocker bottom foot Hammer toe Either / both fingers and toes Polydactyly / Syndactyly Webbed toes Arachnodactyly Cenani–Lenz syndactylism Ectrodactyly Brachydactyly Stub thumb reduction deficits / limb Acheiropodia Ectromelia Phocomelia Amelia Hemimelia multiple joints Arthrogryposis Larsen syndrome RAPADILINO syndrome Axial Skull and face Craniosynostosis Scaphocephaly Oxycephaly Trigonocephaly Craniofacial dysostosis Crouzon syndrome Hypertelorism Hallermann–Streiff syndrome Treacher Collins syndrome other Macrocephaly Platybasia Craniodiaphyseal dysplasia Dolichocephaly Greig cephalopolysyndactyly syndrome Plagiocephaly Saddle nose Vertebral column Spinal curvature Scoliosis Klippel–Feil syndrome Spondylolisthesis Spina bifida occulta Sacralization Thoracic skeleton ribs : Cervical Bifid sternum : Pectus excavatum Pectus carinatum This article about a disease of musculoskeletal and connective tissue is a stub .
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Anesthesia Dolorosa
Wikipedia
ISBN 0-86577-912-0 . p. 311–6. 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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Stocco Dos Santos X-Linked Mental Retardation Syndrome
Omim
A number sign (#) is used with this entry because of evidence that Stocco dos Santos X-linked mental retardation syndrome (SDSX) is caused by mutation in the SHROOM4 gene (300579) on chromosome Xp11. ... Stocco dos Santos et al. (2003) further delineated the X-linked mental retardation syndrome in this family. Lopes et al. (2016) reported a 14-year-old boy (patient 19) with delayed psychomotor development, severe intellectual disability, absent speech, dyspraxic gait, microcephaly, bruxism, and kyphosis/scoliosis. ... The patient had some features reminiscent of Rett syndrome (RTT; 312750), including small cold hands and feet and intense eye communication, but sequence analysis of the MECP2 gene (300005) revealed no mutations. ... Mapping By linkage analysis in a Brazilian family with a mental retardation syndrome, Hagens et al. (2006) identified a locus for the disorder on Xp11.3-q21.1, with a maximum lod score of 3.14 at the androgen receptor (AR; 313700) and DXS983 loci. Molecular Genetics Hagens et al. (2006) identified a missense mutation in the SHROOM4 gene (300579.0001) that segregated with the X-linked mental retardation syndrome in the family described by Stocco dos Santos et al. (1991, 2003).