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Renal Dysplasia, Bilateral
Orphanet
Etiology The etiology of RD is unknown. RD can be part of a syndrome, such as Kallmann syndrome, Bardet-Biedl syndrome, Beckwith-Wiedemann syndrome, diGeorge syndrome, Fraser syndrome, renal coloboma syndrome, and renal cysts and diabetes syndrome (see these terms). HNF1B (17q12), PAX2 (10q24.3-q25.1) and uroplakins genes, which are associated with some of these syndromes, may have an important role in the pathogenesis of RD.
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Goldberg–shprintzen Syndrome
Wikipedia
Goldberg–Shprintzen syndrome Other names Goldberg-Shprintzen megacolon syndrome [1] Goldberg–Shprintzen syndrome is inherited in an autosomal recessive manner Goldberg–Shprintzen is a condition associated with mutations in KIAA1279 gene which encodes KIF-binding protein (KBP), a protein that may interact with microtubules and actin filaments . ... Developmental abnormalities shown by people with Goldberg–Shprintzen syndrome may be ocular ( ptosis , hyperopia , or megalocornea ), cardiac, urogenital ( vesicoureteral reflux , multicystic renal dysplasia ), and skeletal ( oligodontia , scoliosis , high-arched palate ). References [ edit ] ^ "Goldberg-Shprintzen megacolon syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" . rarediseases.info.nih.gov . ... "KBP–cytoskeleton interactions underlie developmental anomalies in Goldberg–Shprintzen syndrome" . Human Molecular Genetics . 22 (12): 2387–2399. doi : 10.1093/hmg/ddt083 .
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Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Orphanet
Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes. Epidemiology SIDDT syndrome has been described in 21 infants from nine separate sibships among the Old Order Amish. Clinical description Infants with SIDDT syndrome appear normal at birth except that they are often recognized by the unusual staccato sound of their cry. ... Female sexual development is normal. Etiology SIDDT syndrome is caused by homozygous mutation in the testis-specific protein Y-like-1 gene, TSPYL1 on chromosome 6 (6q22.1-q22.31). Genetic counseling The syndrome follows an autosomal recessive pattern of inheritance.
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Aldred Syndrome
Wikipedia
Aldred syndrome Other names Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion Aldred syndrome is an X-linked recessive genetic disorder . It is mainly characterized by a form of mental retardation and retinitis pigmentosa . The syndrome was first described by geneticist Micheala Aldred in 1994. [1] Cause [ edit ] Aldred syndrome is caused by a deletion on the p11.3 area of the X-chromosome . [2] References [ edit ] ^ Aldred, M. ... PMID 7977353 . ^ "OMIM Entry - # 300578 - CHROMOSOME Xp11.3 DELETION SYNDROME" . omim.org . Retrieved 2019-04-28 .
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Turner Syndrome
Gard
Turner syndrome is a chromosomal disorder that affects development in females. It results when a female's cells have one normal X chromosome and the other sex chromosome is either missing or structurally altered (females without Turner syndrome have two normal X chromosomes in each cell , and males have one X and one Y chromosome). Signs and symptoms may include short stature, premature ovarian failure , a "webbed" neck, a low hairline at the back of the neck, and swelling (lymphedema) of the hands and feet. Some people with Turner syndrome have skeletal abnormalities, kidney problems, and/or a congenital heart defect. Most affected girls and women have normal intelligence, but some have developmental delays, learning disabilities, and/or behavior problems. Turner syndrome is typically not inherited, but it can be inherited in rare cases. Treatment may include growth hormone therapy for short stature and estrogen therapy to help stimulate sexual development. While most women with Turner syndrome are infertile, assisted reproductive techniques can help some women become pregnant.
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Roussy Levy Syndrome
Gard
Roussy Levy syndrome is a term used to describe a neuromuscular disorder that typically becomes apparent during early childhood. This syndrome is considered a form of Charcot-Marie-Tooth (CMT) disease . ... Additional features of rhythmic shaking (static tremor) in the hands and an unsteady gait ( gait ataxia ) are specific to Roussy Levy syndrome. This disorder is caused by issues with nerve conduction and sensory dysfunction. Roussy Levy syndrome may result from a duplication of the PMP22 gene (which is also associated with CMT1A ) or a mutation in the myelin protein zero ( MPZ ) gene (mutations in this gene are also associated with CMT1B ). Roussy Levy syndrome is inherited in an autosomal dominant manner.
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Congenital Nephrotic Syndrome
Wikipedia
Infants may be born prematurely with low birth weight, and have meconium stained amniotic fluid or a large placenta. [1] [3] Complications [1] [3] [ edit ] Frequent, severe infections: urinary loss of immunoglobulins Malnutrition and poor growth Blood clots (hypercoagulability): imbalance of plasma coagulation factors from urine protein loss Hypothyroidism : urinary loss of thyroid-binding protein Poor bone health associated with vitamin D deficiency : urinary loss of vitamin D binding protein Acute kidney injury Chronic kidney disease and ultimately end-stage kidney disease Causes [ edit ] Primary (genetic) causes [ edit ] Mutations in the following five genes account for greater than 80% of the genetic causes of congenital nephrotic syndrome: [1] NPHS1 (Finnish Type): The gene NPHS1 encodes for the protein nephrin . [1] This genetic variant is characterized by severe protein loss in the first several days to weeks of life. [4] Fin-major and Fin-minor were the first two main genetic mutations identified in Finnish newborns, however, numerous mutations have now been identified in patients all over the world from various ethnic groups. [1] [3] NPHS1 mutations are the most common cause of primary congenital nephrotic syndrome, accounting for 40-80% of cases. [1] NPHS2 : This gene encodes for the protein podocin . [1] Patients with this genetic mutation develop nephrotic syndrome in the first few weeks of infancy, but can also manifest symptoms later in life. [3] Urinary protein loss is less severe when compared with the Finnish type. [3] Both nephrin and podocin play important roles in the structure and function of the podocyte filtration slit diaphragm and disease involvement is typically limited to the kidneys [1] WT1 : The Wilms' tumor suppressor gene regulates the expression of many genes involved in kidney and urogenital development. [4] Mutations lead to several types of developmental syndromes, including Denys-Drash syndrome , Frasier syndrome , WAGR syndrome (Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation), and isolated nephrotic syndrome in infants. [1] [4] Depending on the specific syndrome, patients are at risk for Wilms' and other tumors, genital abnormalities, and nephrotic syndrome. [1] [3] [4] LAMβ2 ( Pierson syndrome ): This gene encodes for the protein laminin β2, which helps attach podocytes to the glomerular basement membrane . [4] Patients with Pierson syndrome have eye abnormalities, including nonreactive narrowing of the pupils ( microcoria ), and neurologic deficits. [3] [4] PLCε1: Codes for the enzyme Phospholipase Cε1, which is expressed in podocytes. [4] Secondary Causes [ edit ] Congenital infections: syphilis , cytomegalovirus , toxoplasmosis , rubella , human immunodeficiency virus (HIV) , malaria , hepatitis B [1] [3] Immunologic: maternal systemic lupus erythematosus [1] Diagnosis [ edit ] An examination reveals massive fluid retention and generalized swelling . ... While infants with infectious causes of congenital nephrotic syndrome may improve with antibiotics or antiviral medications, those with genetic causes progress to end-stage renal disease and require dialysis , and ultimately a kidney transplant . [1] [2] [3] [4] Prognosis [ edit ] Congenital nephrotic syndrome can be successfully controlled with early diagnosis and aggressive treatment including albumin infusions, nephrectomy, and medications. ... PMID 17968594 . ^ a b c d e Jalanko H (November 2009). "Congenital nephrotic syndrome" . Pediatric Nephrology . 24 (11): 2121–8. doi : 10.1007/s00467-007-0633-9 . ... OCLC 959552380 . ^ a b c d e f g h i j k l m n o p q r Weber S (2008). Hereditary Nephrotic Syndrome . Comprehensive Pediatric Nephrology . ... External links [ edit ] OMIM: 256300 Congenital nephrotic syndrome, Finnish type; Congenital nephrotic syndrome 1 at NIH 's Office of Rare Diseases OMIM: 609049 Pierson syndrome; Microcoria and congenital nephrotic syndrome at NIH 's Office of Rare Diseases Classification D ICD - 10 : N04 ICD - 9-CM : 581.9 OMIM : 600995 256300 MeSH : C535761 C535761, C535761 DiseasesDB : 29412 External resources MedlinePlus : 001576
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Carcinoid Syndrome
Wikipedia
Unsourced or poorly sourced material may be challenged and removed . Find sources: "Carcinoid syndrome" – news · newspapers · books · scholar · JSTOR ( March 2013 ) Carcinoid syndrome Other names Carcinoid apudoma, [1] functioning argentaffinoma, [1] Thorson-Bioerck syndrome [2] Serotonin Specialty Endocrinology , oncology Carcinoid syndrome is a paraneoplastic syndrome comprising the signs and symptoms that occur secondary to carcinoid tumors . ... ISBN 9780323068765 . ^ Soga J, Yakuwa Y, Osaka M (1999). "Carcinoid syndrome: a statistical evaluation of 748 reported cases". ... PMID 21605115 . ^ Gade, Ajay K; Olariu, Eva; Douthit, Nathan T (5 March 2020). "Carcinoid Syndrome: A Review" . Cureus . doi : 10.7759/cureus.7186 . Retrieved 25 October 2020 . ^ "FDA Approves Xermelo for Carcinoid Syndrome Diarrhea" . U.S. Food and Drug Administration. ... External links [ edit ] Classification D ICD - 10 : E34.0 ICD - 9-CM : 259.2 ICD-O : M8240/3 -8245 MeSH : D008303 DiseasesDB : 2040 External resources MedlinePlus : 000347 eMedicine : med/271 v t e Disorders involving multiple endocrine glands Autoimmune polyendocrine syndrome APS1 APS2 Carcinoid syndrome Multiple endocrine neoplasia 1 2A 2B Progeria Werner syndrome Acrogeria Metageria Woodhouse–Sakati syndrome
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Sall4-Related Disorders
Gene_reviews
Diagnosis Clinical Diagnosis SALL4 -related disorders include a spectrum of phenotypes previously thought to be distinct entities: Duane-radial ray syndrome (DRRS), or Okihiro syndrome; acro-renal-ocular syndrome (AROS) [Kohlhase et al 2003]; and SALL4 -related Holt-Oram syndrome (HOS). ... SALL4 is the only gene mutated in Duane-radial ray/Okihiro syndrome (DRRS), acro-renal-ocular syndrome (AROS), and SALL4 -related Holt-Oram syndrome (HOS). ... Temtamy & McKusick [1978] named the syndrome Duane/radial dysplasia syndrome [DR syndrome, later modified to Duane-radial ray syndrome (DRRS)]. ... Differential Diagnosis Holt-Oram syndrome . The main differential diagnosis is Holt-Oram syndrome (HOS) caused by pathogenic variants in TBX5 . ... In a few individuals, complete overlap exists between Okihiro syndrome and Townes-Brocks syndrome [Kohlhase et al 2002, Borozdin et al 2004a].
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Patterson-Stevenson-Fontaine Syndrome
Gard
Patterson-Stevenson-Fontaine syndrome is a very rare syndrome characterized by abnormal development of the bones and tissues of the face ( mandibulofacial dysostosis ) and limb abnormalities. ... These limb abnormalities together are known as split-foot deformity or ectrodactyly . Patterson-Stevenson-Fontaine syndrome is inherited in an autosomal dominant manner. Diagnosis of the condition may be based on seeing symptoms in an individual that are consistent with the syndrome. Treatment is focused on improving the symptoms of each person.
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Craniosynostosis–anal Anomalies–porokeratosis Syndrome
Wikipedia
Craniosynostosis–anal anomalies–porokeratosis syndrome Specialty Dermatology Craniosynostosis–anal anomalies–porokeratosis syndrome (also known as "CAP syndrome") is a cutaneous condition inherited in an autosomal recessive fashion. [1] See also [ edit ] Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome List of cutaneous conditions References [ edit ] ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
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Excess Ovarian Androgen Release Syndrome
Wikipedia
Excess ovarian androgen release syndrome Other names Ovarian SAHA syndrome [1] ) Specialty Dermatology/endocrinology Excess ovarian androgen release syndrome is a cutaneous condition usually seen in young women between the ages of 16 and 20. [1] See also [ edit ] Adrenal SAHA syndrome List of cutaneous conditions References [ edit ] ^ a b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
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8p11.2 Deletion Syndrome
Orphanet
8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism. ... In one patient, the association of anosmia was suggestive of Kallmann syndrome (see this term). Etiology The syndrome is caused by deletions of the proximal part of the short arm of chromosome 8 (8p11.1 to 8p21).
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Three M Syndrome
Gene_reviews
Males with three M syndrome have hypogonadism and occasionally hypospadias. ... The most striking feature of three M syndrome is the severe intrauterine growth restriction. ... Nomenclature The name "three M" derives from the initials of the authors who first described the condition. Three M syndrome may also be referred to as Le Merrer syndrome or Yakut short stature syndrome. ... Gloomy face syndrome is likely the same condition as three M. ... Disorders to Consider in the Differential Diagnosis of Three M Syndrome View in own window Disorder Gene(s) MOI Clinical Features of This Disorder Overlapping w/3-M syndrome Distinguishing from 3-M syndrome Silver-Russell syndrome (SRS) See footnote 1 Simplex IUGR, postnatal growth deficiency SRS often shows limb length asymmetry.
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Blind Loop Syndrome
Wikipedia
Blind loop syndrome Other names Stagnant loop syndrome Specialty Gastroenterology Blind loop syndrome ( BLS ), also known as stagnant loop syndrome , [1] is a state that occurs when the normal bacterial flora of the small intestine proliferates to numbers that cause significant derangement to the normal physiological processes of digestion and absorption. In some cases of blind loop syndrome, overgrowth of pathogenic non- commensal bacteria has also been noted. ... Unsourced or poorly sourced material may be challenged and removed . Find sources: "Blind loop syndrome" – news · newspapers · books · scholar · JSTOR ( August 2020 ) The treatment of BLS follows two basic principles. ... (December 1974). "Stagnant loop syndrome resulting from small-bowel irradiation injury and intestinal by-pass". ... Chapter 42 small intestine, question 14 External links [ edit ] Classification D ICD - 10 : K90.2 ICD - 9-CM : 579.2 MeSH : D001765 DiseasesDB : 29514 External resources MedlinePlus : 001146 v t e Diseases of the digestive system Upper GI tract Esophagus Esophagitis Candidal Eosinophilic Herpetiform Rupture Boerhaave syndrome Mallory–Weiss syndrome UES Zenker's diverticulum LES Barrett's esophagus Esophageal motility disorder Nutcracker esophagus Achalasia Diffuse esophageal spasm Gastroesophageal reflux disease (GERD) Laryngopharyngeal reflux (LPR) Esophageal stricture Megaesophagus Esophageal intramural pseudodiverticulosis Stomach Gastritis Atrophic Ménétrier's disease Gastroenteritis Peptic (gastric) ulcer Cushing ulcer Dieulafoy's lesion Dyspepsia Pyloric stenosis Achlorhydria Gastroparesis Gastroptosis Portal hypertensive gastropathy Gastric antral vascular ectasia Gastric dumping syndrome Gastric volvulus Buried bumper syndrome Gastrinoma Zollinger–Ellison syndrome Lower GI tract Enteropathy Small intestine ( Duodenum / Jejunum / Ileum ) Enteritis Duodenitis Jejunitis Ileitis Peptic (duodenal) ulcer Curling's ulcer Malabsorption : Coeliac Tropical sprue Blind loop syndrome Small bowel bacterial overgrowth syndrome Whipple's Short bowel syndrome Steatorrhea Milroy disease Bile acid malabsorption Large intestine ( Appendix / Colon ) Appendicitis Colitis Pseudomembranous Ulcerative Ischemic Microscopic Collagenous Lymphocytic Functional colonic disease IBS Intestinal pseudoobstruction / Ogilvie syndrome Megacolon / Toxic megacolon Diverticulitis / Diverticulosis / SCAD Large and/or small Enterocolitis Necrotizing Gastroenterocolitis IBD Crohn's disease Vascular : Abdominal angina Mesenteric ischemia Angiodysplasia Bowel obstruction : Ileus Intussusception Volvulus Fecal impaction Constipation Diarrhea Infectious Intestinal adhesions Rectum Proctitis Radiation proctitis Proctalgia fugax Rectal prolapse Anismus Anal canal Anal fissure / Anal fistula Anal abscess Hemorrhoid Anal dysplasia Pruritus ani GI bleeding Blood in stool Upper Hematemesis Melena Lower Hematochezia Accessory Liver Hepatitis Viral hepatitis Autoimmune hepatitis Alcoholic hepatitis Cirrhosis PBC Fatty liver NASH Vascular Budd–Chiari syndrome Hepatic veno-occlusive disease Portal hypertension Nutmeg liver Alcoholic liver disease Liver failure Hepatic encephalopathy Acute liver failure Liver abscess Pyogenic Amoebic Hepatorenal syndrome Peliosis hepatis Metabolic disorders Wilson's disease Hemochromatosis Gallbladder Cholecystitis Gallstone / Cholelithiasis Cholesterolosis Adenomyomatosis Postcholecystectomy syndrome Porcelain gallbladder Bile duct / Other biliary tree Cholangitis Primary sclerosing cholangitis Secondary sclerosing cholangitis Ascending Cholestasis / Mirizzi's syndrome Biliary fistula Haemobilia Common bile duct Choledocholithiasis Biliary dyskinesia Sphincter of Oddi dysfunction Pancreatic Pancreatitis Acute Chronic Hereditary Pancreatic abscess Pancreatic pseudocyst Exocrine pancreatic insufficiency Pancreatic fistula Other Hernia Diaphragmatic Congenital Hiatus Inguinal Indirect Direct Umbilical Femoral Obturator Spigelian Lumbar Petit's Grynfeltt-Lesshaft Undefined location Incisional Internal hernia Richter's Peritoneal Peritonitis Spontaneous bacterial peritonitis Hemoperitoneum Pneumoperitoneum
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Cornelia De Lange Syndrome
Wikipedia
Cornelia de Lange syndrome Other names Bushy syndrome One-year-old boy with Cornelia de Lange syndrome Specialty Medical genetics Cornelia de Lange syndrome ( CdLS ) is a genetic disorder . ... The syndrome has a widely varied phenotype, meaning people with the syndrome have varied features and challenges. ... It is often termed Brachmann de Lange syndrome or Bushy syndrome and is also known as Amsterdam dwarfism . ... Enfants . 36 : 713–719. ^ "Brachmann-de Lange syndrome" . ^ Aitken, Kenneth J. (2009). ... External links [ edit ] Classification D ICD - 10 : Q87.1 ( ILDS Q87.170) ICD - 9-CM : 759.89 OMIM : 122470 MeSH : D003635 DiseasesDB : 29651 External resources eMedicine : ped/482 Wikimedia Commons has media related to Cornelia de Lange syndrome . GeneReviews/NCBI/UW/NIH entry on Cornelia de Lange syndrome v t e Nucleus diseases Telomere Revesz syndrome Nucleolus Treacher Collins syndrome Spinocerebellar ataxia 7 Cajal body : Spinal muscular atrophy Centromere CENPJ Seckel syndrome 4 Other AAAS Triple-A syndrome Laminopathy SMC1A / SMC3 Cornelia de Lange Syndrome SETBP1 Schinzel–Giedion syndrome see also nucleusNIPBL, RAD21, HDAC8, SMC3, SMC1A, BRD4, KMT2A, SETD5, PDS5A, ATR, LZTR1, SOS1, RIT1, RAF1, PTPN11, KRAS, CENPJ, CEP63, GPT, CREBBP, ESCO2, NAALADL2, TNKS, MAU2, PHIP, EPS15L1, GALNT14, DYM, GSC, ANKRD11, AFF4, ARSD, PDS5B, STAG2, CTCF, STAG1, CHRD, SHOX2, MYC, HDAC2, GRM1, GH1, FOXF1, EP300, DDX11, CRABP2, CARS1, NIPBL-DT
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Periodic Fever Syndrome
Wikipedia
Periodic fever syndrome Other names Autoinflammatory diseases or Autoinflammatory syndromes Specialty Endocrinology Periodic fever syndromes are a set of disorders characterized by recurrent episodes of systemic and organ-specific inflammation . ... Contents 1 Individual periodic fever syndromes 2 See also 3 Further reading 4 References 5 External links Individual periodic fever syndromes [ edit ] Name OMIM Gene Familial Mediterranean fever (FMF) 249100 MEFV Hyperimmunoglobulinemia D with recurrent fever (HIDS). This is now (along with mevalonic aciduria ) defined as a mevalonate kinase deficiency [5] 260920 MVK TNF receptor associated periodic syndrome (TRAPS) 142680 TNFRSF1A CAPS : Muckle–Wells syndrome (urticaria deafness amyloidosis) 191900 NLRP3 CAPS : Familial cold urticaria 120100 NLRP3 CAPS : Neonatal onset multisystem inflammatory disease (NOMID) 607115 NLRP3 Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA syndrome) none ? Blau syndrome 186580 NOD2 Pyogenic sterile arthritis, pyoderma gangrenosum, acne (PAPA) 604416 PSTPIP1 Deficiency of the interleukin-1–receptor antagonist (DIRA) 612852 IL1RN Yao Syndrome (YAOS) 617321 NOD2 See also [ edit ] Kawasaki disease - possible autoinflammatory mechanism [6] Multisystem inflammatory syndrome in children List of cutaneous conditions Further reading [ edit ] Hobart A. ... "Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation" . Cell. Mol.
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Otospondylomegaepiphyseal Dysplasia
Wikipedia
The features of OSMED are similar to those of another skeletal disorder, Weissenbacher-Zweymüller syndrome . Otospondylomegaepiphyseal dysplasia is a subtype of collagenopathy, types II and XI . ... National Library of Medicine v t e Osteochondrodysplasia Osteodysplasia/ / osteodystrophy Diaphysis Camurati–Engelmann disease Metaphysis Metaphyseal dysplasia Jansen's metaphyseal chondrodysplasia Schmid metaphyseal chondrodysplasia Epiphysis Spondyloepiphyseal dysplasia congenita Multiple epiphyseal dysplasia Otospondylomegaepiphyseal dysplasia Osteosclerosis Raine syndrome Osteopoikilosis Osteopetrosis Other/ungrouped FLNB Boomerang dysplasia Opsismodysplasia Polyostotic fibrous dysplasia McCune–Albright syndrome Chondrodysplasia / chondrodystrophy (including dwarfism ) Osteochondroma osteochondromatosis Hereditary multiple exostoses Chondroma / enchondroma enchondromatosis Ollier disease Maffucci syndrome Growth factor receptor FGFR2 : Antley–Bixler syndrome FGFR3 : Achondroplasia Hypochondroplasia Thanatophoric dysplasia COL2A1 collagen disease Achondrogenesis type 2 Hypochondrogenesis SLC26A2 sulfation defect Achondrogenesis type 1B Autosomal recessive multiple epiphyseal dysplasia Atelosteogenesis, type II Diastrophic dysplasia Chondrodysplasia punctata Rhizomelic chondrodysplasia punctata Conradi–Hünermann syndrome Other dwarfism Fibrochondrogenesis Short rib – polydactyly syndrome Majewski's polydactyly syndrome Léri–Weill dyschondrosteosis v t e Diseases of collagen , laminin and other scleroproteins Collagen disease COL1 : Osteogenesis imperfecta Ehlers–Danlos syndrome, types 1, 2, 7 COL2 : Hypochondrogenesis Achondrogenesis type 2 Stickler syndrome Marshall syndrome Spondyloepiphyseal dysplasia congenita Spondyloepimetaphyseal dysplasia, Strudwick type Kniest dysplasia (see also C2/11 ) COL3 : Ehlers–Danlos syndrome, types 3 & 4 Sack–Barabas syndrome COL4 : Alport syndrome COL5 : Ehlers–Danlos syndrome, types 1 & 2 COL6 : Bethlem myopathy Ullrich congenital muscular dystrophy COL7 : Epidermolysis bullosa dystrophica Recessive dystrophic epidermolysis bullosa Bart syndrome Transient bullous dermolysis of the newborn COL8: Fuchs' dystrophy 1 COL9: Multiple epiphyseal dysplasia 2, 3, 6 COL10: Schmid metaphyseal chondrodysplasia COL11: Weissenbacher–Zweymüller syndrome Otospondylomegaepiphyseal dysplasia (see also C2/11 ) COL17: Bullous pemphigoid COL18: Knobloch syndrome Laminin Junctional epidermolysis bullosa Laryngoonychocutaneous syndrome Other Congenital stromal corneal dystrophy Raine syndrome Urbach–Wiethe disease TECTA DFNA8/12, DFNB21 see also fibrous proteins
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Image Syndrome
Gene_reviews
Typically a CDKN1C pathogenic variant causing IMAGe syndrome is inherited in an autosomal dominant manner; however, only maternal transmission of the pathogenic variant results in IMAGe syndrome. ... No formal clinical diagnostic criteria for IMAGe syndrome have been defined. Suggestive Findings IMAGe syndrome should be suspected in individuals with the following clinical, imaging, and suggestive laboratory findings. ... Because the genetic etiology of IMAGe syndrome has only recently been elucidated, it is likely that the spectrum and natural history of IMAGe syndrome will be refined as more affected individuals are identified. ... Two females with IMAGe syndrome have had children [Authors, unpublished observations]. ... CAH is far more common than IMAGe syndrome. In addition to distinct biochemical profiles, CAH and IMAGe syndrome differ in the following ways: Infants with CAH rarely have IUGR.
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Cervicocranial Syndrome
Wikipedia
Cervicocranial syndrome Other names Craniocervical Junction Syndrome Specialty Neurology Cervicocranial syndrome or ( Craniocervical Junction Syndrome: CCJ syndrome ) is a neurological illness . ... There is no single cause that can mainly cause cervicocranial syndrome. Genetic [ edit ] Individual with Klippel-Feil syndrome showing fused cervical bones in the neck. ... (Image 1. and 2.) When cervicocranial syndrome is caused as a result of a genetic disease , then family history and genetic testing aid in making an accurate diagnosis of cervicocranial syndrome. 2. ... (June 1985). "[The cervico-cranial syndrome in the practice of the otorhinolaryngologist]" . ... PMID 30610316 . ^ "Cervicocranial syndrome (Concept Id: C2355645) - MedGen - NCBI" . www.ncbi.nlm.nih.gov .