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Biemond Syndrome Ii
Omim
The features of this syndrome, which resembles the Bardet-Biedl syndrome (209900), are iris coloboma, mental retardation, obesity, hypogenitalism, and postaxial polydactyly. The 3 brothers described by Blumel and Kniker (1959) as having the Laurence-Moon-Bardet-Biedl syndrome may have had this condition. Hydrocephalus and hypospadias were also present. ... Verloes et al. (1997) proposed a new nosology for the so-called Biemond syndrome type 2 (BS2). They suggested that purported BS2 cases may be divided into: (1) Bardet-Biedl syndrome (see 209901) with fortuitous coloboma or aniridia; (2) BS2 sensu stricto, a recessively inherited syndrome of sexual infantilism, short stature, coloboma, and preaxial polydactyly without obesity, only known from the original report; (3) a 'new' dominantly inherited form of colobomatous microphthalmia occasionally associated with obesity, hypogonadism, and mental retardation (601794), which Verloes et al. (1997) described in their report; (4) a cytogenetically proven Rubinstein-Taybi syndrome (180849) in 1 case; (5) an unclassifiable, early lethal familial syndrome resembling Buntinx-Majewski syndrome (see 249620); and (6) a 'new' coloboma-zygodactyly-clefting syndrome. A chromosomal anomaly was suspected in the last 2 syndromes. INHERITANCE - Autosomal recessive GROWTH Height - Short stature HEAD & NECK Eyes - Iris coloboma SKELETAL Hands - Preaxial polydactyly NEUROLOGIC Central Nervous System - Mental retardation - Hydrocephalus ENDOCRINE FEATURES - Hypogonadaism ▲ Close
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Sirenomelia
Wikipedia
Rare congenital deformity in which the legs are fused together, Sirenomelia Sirenomelia , Lyon natural history and anatomy museum Specialty Medical genetics Sirenomelia Sirenomelia , also called mermaid syndrome , is a rare congenital deformity in which the legs are fused together, giving the appearance of a mermaid 's tail, hence the nickname. ... It may include absence of the lower spine, abnormalities of the pelvis, renal organs, and was previously thought to be a severe form of sacral agensis/caudal regression syndrome, but more recently research verifies that these two conditions are not related. [4] NORD has a separate report on caudal regression syndrome. ... OCLC 828737906 . ^ reference: https://rarediseases.org/rare-diseases/sirenomelia/ and Das BB, Rajegowda BK, Bainbridge R, Giampietro PF. Caudal regression syndrome versus sirenomelia: a case report. ... Retrieved 2008-04-21 . [ verification needed ] ^ Assimakopoulos, E; Athanasiadis, A; Zafrakas, M; Dragoumis, K; Bontis, J (2004). "Caudal regression syndrome and sirenomelia in only one twin in two diabetic pregnancies". ... Classification D ICD - 10 : Q87.2 ICD - 9-CM : 759.89 MeSH : D004480 v t e Congenital abnormality syndromes Craniofacial Acrocephalosyndactylia Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome Bonnet–Dechaume–Blanc syndrome Other Baller–Gerold syndrome Cyclopia Goldenhar syndrome Möbius syndrome Short stature 1q21.1 deletion syndrome Aarskog–Scott syndrome Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome Robinow syndrome Silver–Russell syndrome Seckel syndrome Smith–Lemli–Opitz syndrome Snyder–Robinson syndrome Turner syndrome Limbs Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay–Weber syndrome Nail–patella syndrome Rubinstein–Taybi syndrome Gastrulation / mesoderm : Caudal regression syndrome Ectromelia Sirenomelia VACTERL association Overgrowth syndromes Beckwith–Wiedemann syndrome Proteus syndrome Perlman syndrome Sotos syndrome Weaver syndrome Klippel–Trénaunay–Weber syndrome Benign symmetric lipomatosis Bannayan–Riley–Ruvalcaba syndrome Neurofibromatosis type I Laurence–Moon–Bardet–Biedl Bardet–Biedl syndrome Laurence–Moon syndrome Combined/other, known locus 2 ( Feingold syndrome ) 3 ( Zimmermann–Laband syndrome ) 4 / 13 ( Fraser syndrome ) 8 ( Branchio-oto-renal syndrome , CHARGE syndrome ) 12 ( Keutel syndrome , Timothy syndrome ) 15 ( Marfan syndrome ) 19 ( Donohue syndrome ) Multiple Fryns syndrome
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Hurler Syndrome
Wikipedia
Other, less severe forms of MPS Type I include Hurler-Scheie Syndrome (MPS-IHS) and Scheie Syndrome (MPS-IS). ... It is clinically related to Hunter syndrome (MPS II); [2] however, Hunter syndrome is X-linked , while Hurler syndrome is autosomal recessive . ... The other two types are MPS-IS ( Scheie syndrome ) and MPS-IHS ( Hurler-Scheie syndrome ). Because of the substantial overlap between Hurler syndrome, Hurler-Scheie syndrome, and Scheie syndrome, some sources consider these terms to be outdated. ... PMID 18796143 . ^ a b c Banikazemi M (12 Oct 2014). "Hurler syndrome, Hurler-Scheie Syndrome, and Scheie Syndrome (Mucopolysaccharidosis Type I)" .
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Kbg Syndrome
Wikipedia
KBG syndrome Symptoms macrodontia , brachycephaly , hypertelorism , synophrys , long philtrum , thin upper lip KBG syndrome is a genetic disease that is the result of a mutation in the ANKRD11 gene. [1] Features include unusually large upper front teeth ( macrodontia ), wide, short skull ( brachycephaly ), widely spaced eyes ( hypertelorism ), and wide eyebrows that may grow together in the middle ( synophrys ). [2] The syndrome was first described by Herrmann in 1975 in three distinct families. [3] Herrmann proposed the name KBG syndrome after the initials of affected families last names. [4] References [ edit ] ^ Online Mendelian Inheritance in Man (OMIM): KBG syndrome - 148050 ^ "KBG syndrome" . ... Department of Health & Human Services, National Library of Medicine. ^ Herrmann J, Pallister PD, Tiddy W, Opitz JM (1975). "The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies". ... PMID 1218237 . ^ Morel Swols D, Foster J, Tekin M (December 2017). "KBG syndrome" . Orphanet Journal of Rare Diseases . 12 (1): 183. doi : 10.1186/s13023-017-0736-8 . ... External links [ edit ] Classification D OMIM : 148050 MeSH : C537015 C537015, C537015 DiseasesDB : 36370 SNOMED CT : 711156009 External resources GeneReviews : KBG Syndrome Orphanet : 2332
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Digeorge Syndrome (22q11.2 Deletion Syndrome)
Mayo_clinic
Overview DiGeorge syndrome, more accurately known by a broader term — 22q11.2 deletion syndrome — is a disorder caused when a small part of chromosome 22 is missing. ... Complications The portions of chromosome 22 deleted in DiGeorge syndrome (22q11.2 deletion syndrome) play a role in the development of a number of body systems. ... Prevention In some cases, DiGeorge syndrome (22q11.2 deletion syndrome) may be passed from an affected parent to a child. ... Diagnosis A diagnosis of DiGeorge syndrome (22q11.2 deletion syndrome) is based primarily on a lab test that can detect the deletion in chromosome 22. ... Coping and support Having a child with DiGeorge syndrome (22q11.2 deletion syndrome) is challenging.
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Star Syndrome
Gard
STAR syndrome is a very rare syndrome that affects many parts of the body. "STAR" is an acronym for the primary signs and symptoms of the syndrome: S yndactyly - webbed or conjoined fingers or toes (the toes are particularly affected in this syndrome). ... R enal malformations. - abnormal formation of the kidneys. However, some people with STAR syndrome have had a variety of additional features affecting many parts of the body. STAR syndrome may be caused by a mutation or deletion affecting the FAM58A gene, also called the CCNQ gene . ... Additional features that have been reported include other skeletal abnormalities, hearing loss, epilepsy, ocular abnormalities, syringomyelia , tethered spinal cord , and various other birth defects. Inheritance of STAR syndrome is X-linked dominant. The syndrome is thought to be lethal in male embryos; only females with STAR syndrome have been reported.
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Johnson–mcmillin Syndrome
Wikipedia
Johnson–McMillin syndrome Other names Johnson neuroectodermal syndrome, [1] alopecia–anosmia–deafness–hypogonadism syndrome [1] Johnson–McMillin syndrome is inherited in an autosomal dominant manner. Johnson–McMillin syndrome , also known as Johnson neuroectodermal syndrome , is a neuroectodermal syndrome that consists of conductive hearing loss and microtia . [2] See also [ edit ] List of cutaneous conditions References [ edit ] ^ a b "OMIM Entry - % 147770 - JOHNSON NEUROECTODERMAL SYNDROME" . www.omim.org .
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Radial Tunnel Syndrome
Wikipedia
ISBN 978-0-07-337825-1 . ^ a b " Cubital and Radial Tunnel Syndrome " . Retrieved 4 December 2011 . ^ " Radial Tunnel Syndrome " . ... Cleary, C (2006). "Management of Radial Tunnel Syndrome: A Therapist's Clinical Perspective". ... ' " [About the problem of radial tunnel syndrome or 'where does the tennis elbow end and where does the radial tunnel syndrome begin?']. ... "A new clinical test for radial tunnel syndrome—the Rule-of-Nine test: A cadaveric study" (PDF) . ... L.; Engber, William D. (1997). "Radial tunnel syndrome: Long-term results of surgical decompression".
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Stickler Syndrome, Type Ii
Omim
Marshall syndrome (154780) is an allelic disorder with overlapping features. ... Richards et al. (1996) concluded that whereas mutations in genes encoding collagen XI can give rise to some manifestations of Stickler syndrome, only mutations in COL11A1 lead to the full syndrome with vitreoretinal features. ... Majava et al. (2007) concluded that heterozygous COL11A1 mutations can result in either Marshall syndrome or Stickler syndrome, and also in phenotypes that are difficult to classify with respect to the 2 disorders. A type I vitreous anomaly was diagnosed in a patient with a mutation in COL11A1 (120280.0006), suggesting that the vitreous phenotype does not always allow prediction of the defective gene in Stickler and Marshall syndromes. Genotype/Phenotype Correlations Annunen et al. (1999) identified 15 novel mutations in the COL11A1 gene and 8 in the COL2A1 gene in patients with Marshall syndrome, Stickler syndrome, or Stickler-like syndrome. ... An unrelated male had Treacher-Collins syndrome (TCOF; 154500) inherited from the father and Stickler syndrome type II resulting from a maternal COL11A1 mutation.
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Coach Syndrome
Omim
Joubert syndrome-6 (JBTS6; 610688) and Meckel syndrome type 3 (MKS3; 607361) are allelic disorders with overlapping phenotypes. ... Brancati et al. (2009) defined COACH syndrome as a subtype of Joubert syndrome with congenital hepatic fibrosis. ... Doherty et al. (2010) reported 23 families with COACH syndrome, defined as Joubert syndrome with clinically apparent liver disease. ... Doherty et al. (2010) identified mutations in the TMEM67 gene in 19 (83%) of 23 families with COACH syndrome, defined as Joubert syndrome with liver disease. ... The findings further supported the concept that COACH syndrome is a form of Joubert syndrome with hepatic fibrosis.
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Ischiopatellar Dysplasia
Wikipedia
The small patella syndrome: description of five cases from three families and examination of possible allelism with familial patella aplasia-hypoplasia and nail-patella syndrome. ... Small patella syndrome: a bone dysplasia to recognize and differentiate from the nail-patella syndrome. ... The small patella syndrome: description of five cases from three families and examination of possible allelism with familial patella aplasia-hypoplasia and nail-patella syndrome. ... Small patella syndrome: a bone dysplasia to recognize and differentiate from the nail-patella syndrome. ... Small patella syndrome. Am J Med Genet. 1995;57:558–561.
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Jackson–weiss Syndrome
Wikipedia
Jackson–Weiss syndrome Other names Craniosynostosis, midfacial hypoplasia, and foot abnormalities [1] Jackson–Weiss syndrome is inherited in an autosomal dominant pattern Symptoms Hypertelorism [1] Causes Mutations in the FGFR2 gene [2] Diagnostic method Genetic testing [2] Treatment Surgery [3] Jackson–Weiss syndrome ( JWS ) is a genetic disorder characterized by foot abnormalities and the premature fusion of certain bones of the skull ( craniosynostosis ), which prevents further growth of the skull and affects the shape of the head and face. ... "Jackson–Weiss syndrome" (PDF) . p. 2 . Retrieved 2009-03-31 . ^ Jackson CE, Weiss L, Reynolds WA, Forman TF, Peterson JA (June 1976). ... Retrieved 14 December 2016 . ^ a b c d Robin, Nathaniel H.; Falk, Marni J.; Haldeman-Englert, Chad R. (1 January 1993). "FGFR-Related Craniosynostosis Syndromes" . GeneReviews . PMID 20301628 . ... Retrieved 14 December 2016 . ^ "Jackson-Weiss syndrome - Conditions - GTR - NCBI" . www.ncbi.nlm.nih.gov . ... CS1 maint: extra text: authors list ( link ) External links [ edit ] Classification D ICD - 10 : Q87.89 OMIM : 123150 MeSH : C537559 DiseasesDB : 31364 SNOMED CT : 709105005 External resources Orphanet : 1540 Scholia has a topic profile for Jackson–Weiss syndrome . v t e Cell surface receptor deficiencies G protein-coupled receptor (including hormone ) Class A TSHR ( Congenital hypothyroidism 1 ) LHCGR ( Luteinizing hormone insensitivity , Leydig cell hypoplasia , Male-limited precocious puberty ) FSHR ( Follicle-stimulating hormone insensitivity , XX gonadal dysgenesis ) GnRHR ( Gonadotropin-releasing hormone insensitivity ) EDNRB ( ABCD syndrome , Waardenburg syndrome 4a , Hirschsprung's disease 2 ) AVPR2 ( Nephrogenic diabetes insipidus 1 ) PTGER2 ( Aspirin-induced asthma ) Class B PTH1R ( Jansen's metaphyseal chondrodysplasia ) Class C CASR ( Familial hypocalciuric hypercalcemia ) Class F FZD4 ( Familial exudative vitreoretinopathy 1 ) Enzyme-linked receptor (including growth factor ) RTK ROR2 ( Robinow syndrome ) FGFR1 ( Pfeiffer syndrome , KAL2 Kallmann syndrome ) FGFR2 ( Apert syndrome , Antley–Bixler syndrome , Pfeiffer syndrome , Crouzon syndrome , Jackson–Weiss syndrome ) FGFR3 ( Achondroplasia , Hypochondroplasia , Thanatophoric dysplasia , Muenke syndrome ) INSR ( Donohue syndrome Rabson–Mendenhall syndrome ) NTRK1 ( Congenital insensitivity to pain with anhidrosis ) KIT ( KIT Piebaldism , Gastrointestinal stromal tumor ) STPK AMHR2 ( Persistent Müllerian duct syndrome II ) TGF beta receptors : Endoglin / Alk-1 / SMAD4 ( Hereditary hemorrhagic telangiectasia ) TGFBR1 / TGFBR2 ( Loeys–Dietz syndrome ) GC GUCY2D ( Leber's congenital amaurosis 1 ) JAK-STAT Type I cytokine receptor : GH ( Laron syndrome ) CSF2RA ( Surfactant metabolism dysfunction 4 ) MPL ( Congenital amegakaryocytic thrombocytopenia ) TNF receptor TNFRSF1A ( TNF receptor associated periodic syndrome ) TNFRSF13B ( Selective immunoglobulin A deficiency 2 ) TNFRSF5 ( Hyper-IgM syndrome type 3 ) TNFRSF13C ( CVID4 ) TNFRSF13B ( CVID2 ) TNFRSF6 ( Autoimmune lymphoproliferative syndrome 1A ) Lipid receptor LRP : LRP2 ( Donnai–Barrow syndrome ) LRP4 ( Cenani–Lenz syndactylism ) LRP5 ( Worth syndrome , Familial exudative vitreoretinopathy 4 , Osteopetrosis 1 ) LDLR ( LDLR Familial hypercholesterolemia ) Other/ungrouped Immunoglobulin superfamily : AGM3, 6 Integrin : LAD1 Glanzmann's thrombasthenia Junctional epidermolysis bullosa with pyloric atresia EDAR ( EDAR hypohidrotic ectodermal dysplasia ) PTCH1 ( Nevoid basal-cell carcinoma syndrome ) BMPR1A ( BMPR1A juvenile polyposis syndrome ) IL2RG ( X-linked severe combined immunodeficiency ) See also cell surface receptors v t e Medicine Specialties and subspecialties Surgery Cardiac surgery Cardiothoracic surgery Colorectal surgery Eye surgery General surgery Neurosurgery Oral and maxillofacial surgery Orthopedic surgery Hand surgery Otolaryngology ENT Pediatric surgery Plastic surgery Reproductive surgery Surgical oncology Transplant surgery Trauma surgery Urology Andrology Vascular surgery Internal medicine Allergy / Immunology Angiology Cardiology Endocrinology Gastroenterology Hepatology Geriatrics Hematology Hospital medicine Infectious disease Nephrology Oncology Pulmonology Rheumatology Obstetrics and gynaecology Gynaecology Gynecologic oncology Maternal–fetal medicine Obstetrics Reproductive endocrinology and infertility Urogynecology Diagnostic Radiology Interventional radiology Nuclear medicine Pathology Anatomical Clinical pathology Clinical chemistry Cytopathology Medical microbiology Transfusion medicine Other Addiction medicine Adolescent medicine Anesthesiology Dermatology Disaster medicine Diving medicine Emergency medicine Mass gathering medicine Family medicine General practice Hospital medicine Intensive care medicine Medical genetics Narcology Neurology Clinical neurophysiology Occupational medicine Ophthalmology Oral medicine Pain management Palliative care Pediatrics Neonatology Physical medicine and rehabilitation PM&R Preventive medicine Psychiatry Addiction psychiatry Radiation oncology Reproductive medicine Sexual medicine Sleep medicine Sports medicine Transplantation medicine Tropical medicine Travel medicine Venereology Medical education Medical school Bachelor of Medicine, Bachelor of Surgery Bachelor of Medical Sciences Master of Medicine Master of Surgery Doctor of Medicine Doctor of Osteopathic Medicine MD–PhD Related topics Alternative medicine Allied health Dentistry Podiatry Pharmacy Physiotherapy Molecular oncology Nanomedicine Personalized medicine Public health Rural health Therapy Traditional medicine Veterinary medicine Physician Chief physician History of medicine Book Category Commons Wikiproject Portal Outline
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Tnf Receptor Associated Periodic Syndrome
Wikipedia
TNF receptor associated periodic syndrome Other names Familial Hibernian fever, Tumor necrosis factor receptor associated periodic syndrome Symptoms Vertigo, pericarditis [1] Causes Mutations in the TNFRSF1A gene [2] Diagnostic method Blood test, Genetic test [3] [4] Treatment Corticosteroids, NSAIDS [1] TNF receptor associated periodic syndrome ( TRAPS [5] ) is a periodic fever syndrome associated with mutations in a receptor for the molecule tumor necrosis factor (TNF) that is inheritable in an autosomal dominant manner. ... Retrieved 3 January 2018 . ^ a b "TNF receptor-associated periodic fever syndrome (TRAPS) – Conditions – GTR – NCBI" . www.ncbi.nlm.nih.gov . ... "TNF-receptor-associated periodic syndrome (TRAPS): an autosomal dominant multisystem disorder". ... "Orphanet: Tumor necrosis factor receptor 1 associated periodic syndrome" . www.orpha.net . Retrieved 22 June 2017 . ^ "OMIM Gene Map – Chromosome: 12" . omim.org . ... "Falling into TRAPS – receptor misfolding in the TNF receptor 1-associated periodic fever syndrome" . Arthritis Research & Therapy . 9 (4): 217. doi : 10.1186/ar2197 .TNFRSF1A, TNF, MEFV, IL1B, NLRP3, IL1A, MVK, IL6, IL1RN, GPT, NOD2, CCL2, MAPK14, TLR4, XBP1, VEGFA, KHSRP, IL18R1, MSC, TRAF6, ADIPOQ, GRAP2, TNFRSF1B, TLR2, EBI3, TIMP4, FST, AIMP2, POLDIP2, AHSA1, PSIP1, MIR92B, HFM1, DOCK11, APOA5, CGB8, CGB5, NLRP12, WNK1, GORASP1, IGAN1, RETN, AHI1, TLR9, NCKIPSD, SIGLEC7, TCF3, RNF19A, THBD, AKT1, SYT1, CCL5, HTC2, HCLS1, FCGR3B, FCGR3A, EPHA3, CYP17A1, CUX1, CSF2, CRP, CRK, CORD1, CGB3, CGA, CD14, CASP3, CAPS, ATP7B, IL2RB, CXCL8, IL10, MAPK1, CCL4, FAS, ROS1, RHD, RELA, PROC, MAP2K1, PRKCA, IRF7, PPARG, PIK3CG, PIK3CD, PIK3CB, PIK3CA, PC, NOS3, DNLZ
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Hyper-Igm Syndrome Type 3
Wikipedia
Primary immune deficiency disorder Hyper IgM syndrome type 3 Immunoglobulin M Specialty Hematology Types Hyper-IgM syndrome type 1,2,3,4 and 5 [1] [2] [3] [4] [5] Diagnostic method MRI, Chest radiography and genetic testing [6] Treatment Allogeneic hematopoietic cell transplantation [7] Hyper-IgM syndrome type 3 is a form of hyper IgM syndrome characterized by mutations of the CD40 gene. [8] In this type, Immature B cells cannot receive signal 2 from helper T cells which is necessary to mature into mature B cells. Contents 1 Hyper IgM syndromes 2 Signs and symptoms 3 Cause 4 Pathophysiology 5 Diagnosis 6 Treatment 7 References Hyper IgM syndromes [ edit ] Hyper IgM syndromes is a group of primary immune deficiency disorders characterized by defective CD40 signaling; via B cells affecting class switch recombination (CSR) and somatic hypermutation . ... As a consequence, people with HIGM have an increased susceptibility to infections. [9] [7] [10] Signs and symptoms [ edit ] Hyper IgM syndrome can have the following syndromes: [6] [11] Infection / Pneumocystis pneumonia (PCP), which is common in infants with hyper IgM syndrome, is a serious illness. [9] PCP is one of the most frequent and severe opportunistic infections in people with weakened immune systems. ... "Update on the hyper immunoglobulin M syndromes" . British Journal of Haematology . 149 (2): 167–180. doi : 10.1111/j.1365-2141.2010.08077.x . ... Classification D ICD - 10 : D80.5 OMIM : 608106 External resources Orphanet : 101092 v t e Lymphoid and complement disorders causing immunodeficiency Primary Antibody / humoral ( B ) Hypogammaglobulinemia X-linked agammaglobulinemia Transient hypogammaglobulinemia of infancy Dysgammaglobulinemia IgA deficiency IgG deficiency IgM deficiency Hyper IgM syndrome ( 1 2 3 4 5 ) Wiskott–Aldrich syndrome Hyper-IgE syndrome Other Common variable immunodeficiency ICF syndrome T cell deficiency ( T ) thymic hypoplasia : hypoparathyroid ( Di George's syndrome ) euparathyroid ( Nezelof syndrome Ataxia–telangiectasia ) peripheral: Purine nucleoside phosphorylase deficiency Hyper IgM syndrome ( 1 ) Severe combined (B+T) x-linked: X-SCID autosomal: Adenosine deaminase deficiency Omenn syndrome ZAP70 deficiency Bare lymphocyte syndrome Acquired HIV/AIDS Leukopenia : Lymphocytopenia Idiopathic CD4+ lymphocytopenia Complement deficiency C1-inhibitor ( Angioedema / Hereditary angioedema ) Complement 2 deficiency / Complement 4 deficiency MBL deficiency Properdin deficiency Complement 3 deficiency Terminal complement pathway deficiency Paroxysmal nocturnal hemoglobinuria Complement receptor deficiency
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Waardenburg Syndrome Type 4a
Wikipedia
Waardenburg Syndrome Type 4A Other names Shah-Waardenburg Syndrome Waardenburg Syndrome Type 4A is an extremely rare congenital disorder caused by a mutation in an endothelin receptor gene. ... Waardenburg Syndrome Type 4A is the rarest among the types, appearing only once in about every 1,000,000 individuals. ... Similar to other types of Waardenburg Syndrome, Shah-Waardenburg Syndrome patients present with some facial features such the abnormal pigmentation in the hair and premature graying, observed as white forelock. ... N. (2018-09-01). "Case of Waardenburg Shah syndrome in a family with review of literature" . ... "Clinical variability of Waardenburg–Shah syndrome in patients with proximal 13q deletion syndrome including the endothelin-B receptor locus".
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Wolfram Syndrome
Medlineplus
Wolfram syndrome is a condition that affects many of the body's systems. ... There are two types of Wolfram syndrome with many overlapping features. ... In addition to the usual features of Wolfram syndrome, individuals with Wolfram syndrome type 2 have stomach or intestinal ulcers and excessive bleeding after an injury. ... Only a few families from Jordan have been found to have Wolfram syndrome type 2. Causes Mutations in the WFS1 gene cause more than 90 percent of Wolfram syndrome type 1 cases. ... The death of cells in other body systems likely causes the various signs and symptoms of Wolfram syndrome type 1. A certain mutation in the CISD2 gene was found to cause Wolfram syndrome type 2.
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Congenital Hypothyroidism
Wikipedia
It is now deprecated; ICD-10 uses " congenital iodine deficiency syndrome " with additional specifiers for the various types. [ citation needed ] Genetics [ edit ] Congenital hypothyroidism can also occur due to genetic defects of thyroxine or triiodothyronine synthesis within a structurally normal gland. ... External links [ edit ] Classification D ICD - 10 : E00 , E03.0 , E03.1 ICD - 9-CM : 243 MeSH : D003409 DiseasesDB : 6612 External resources MedlinePlus : 001193 v t e Thyroid disease Hypothyroidism Iodine deficiency Cretinism Congenital hypothyroidism Myxedema Myxedema coma Euthyroid sick syndrome Signs and symptoms Queen Anne's sign Woltman sign Thyroid dyshormonogenesis Pickardt syndrome Hyperthyroidism Hyperthyroxinemia Thyroid hormone resistance Familial dysalbuminemic hyperthyroxinemia Hashitoxicosis Thyrotoxicosis factitia Thyroid storm Graves' disease Signs and symptoms Abadie's sign of exophthalmic goiter Boston's sign Dalrymple's sign Stellwag's sign lid lag Griffith's sign Möbius sign Pretibial myxedema Graves' ophthalmopathy Thyroiditis Acute infectious Subacute De Quervain's Subacute lymphocytic Palpation Autoimmune /chronic Hashimoto's Postpartum Riedel's Enlargement Goitre Endemic goitre Toxic nodular goitre Toxic multinodular goiter Thyroid nodule Colloid nodule v t e Congenital endocrine disorders Pituitary Congenital hypopituitarism Thyroid Thyroid disease Persistent thyroglossal duct Thyroglossal cyst Congenital hypothyroidism Thyroid dysgenesis Thyroid dyshormonogenesis Pendred syndrome Parathyroid Congenital absence of parathyroid Adrenal Absent adrenal gland v t e Cell surface receptor deficiencies G protein-coupled receptor (including hormone ) Class A TSHR ( Congenital hypothyroidism 1 ) LHCGR ( Luteinizing hormone insensitivity , Leydig cell hypoplasia , Male-limited precocious puberty ) FSHR ( Follicle-stimulating hormone insensitivity , XX gonadal dysgenesis ) GnRHR ( Gonadotropin-releasing hormone insensitivity ) EDNRB ( ABCD syndrome , Waardenburg syndrome 4a , Hirschsprung's disease 2 ) AVPR2 ( Nephrogenic diabetes insipidus 1 ) PTGER2 ( Aspirin-induced asthma ) Class B PTH1R ( Jansen's metaphyseal chondrodysplasia ) Class C CASR ( Familial hypocalciuric hypercalcemia ) Class F FZD4 ( Familial exudative vitreoretinopathy 1 ) Enzyme-linked receptor (including growth factor ) RTK ROR2 ( Robinow syndrome ) FGFR1 ( Pfeiffer syndrome , KAL2 Kallmann syndrome ) FGFR2 ( Apert syndrome , Antley–Bixler syndrome , Pfeiffer syndrome , Crouzon syndrome , Jackson–Weiss syndrome ) FGFR3 ( Achondroplasia , Hypochondroplasia , Thanatophoric dysplasia , Muenke syndrome ) INSR ( Donohue syndrome Rabson–Mendenhall syndrome ) NTRK1 ( Congenital insensitivity to pain with anhidrosis ) KIT ( KIT Piebaldism , Gastrointestinal stromal tumor ) STPK AMHR2 ( Persistent Müllerian duct syndrome II ) TGF beta receptors : Endoglin / Alk-1 / SMAD4 ( Hereditary hemorrhagic telangiectasia ) TGFBR1 / TGFBR2 ( Loeys–Dietz syndrome ) GC GUCY2D ( Leber's congenital amaurosis 1 ) JAK-STAT Type I cytokine receptor : GH ( Laron syndrome ) CSF2RA ( Surfactant metabolism dysfunction 4 ) MPL ( Congenital amegakaryocytic thrombocytopenia ) TNF receptor TNFRSF1A ( TNF receptor associated periodic syndrome ) TNFRSF13B ( Selective immunoglobulin A deficiency 2 ) TNFRSF5 ( Hyper-IgM syndrome type 3 ) TNFRSF13C ( CVID4 ) TNFRSF13B ( CVID2 ) TNFRSF6 ( Autoimmune lymphoproliferative syndrome 1A ) Lipid receptor LRP : LRP2 ( Donnai–Barrow syndrome ) LRP4 ( Cenani–Lenz syndactylism ) LRP5 ( Worth syndrome , Familial exudative vitreoretinopathy 4 , Osteopetrosis 1 ) LDLR ( LDLR Familial hypercholesterolemia ) Other/ungrouped Immunoglobulin superfamily : AGM3, 6 Integrin : LAD1 Glanzmann's thrombasthenia Junctional epidermolysis bullosa with pyloric atresia EDAR ( EDAR hypohidrotic ectodermal dysplasia ) PTCH1 ( Nevoid basal-cell carcinoma syndrome ) BMPR1A ( BMPR1A juvenile polyposis syndrome ) IL2RG ( X-linked severe combined immunodeficiency ) See also cell surface receptors v t e Genetic disorders relating to deficiencies of transcription factor or coregulators (1) Basic domains 1.2 Feingold syndrome Saethre–Chotzen syndrome 1.3 Tietz syndrome (2) Zinc finger DNA-binding domains 2.1 ( Intracellular receptor ): Thyroid hormone resistance Androgen insensitivity syndrome PAIS MAIS CAIS Kennedy's disease PHA1AD pseudohypoaldosteronism Estrogen insensitivity syndrome X-linked adrenal hypoplasia congenita MODY 1 Familial partial lipodystrophy 3 SF1 XY gonadal dysgenesis 2.2 Barakat syndrome Tricho–rhino–phalangeal syndrome 2.3 Greig cephalopolysyndactyly syndrome / Pallister–Hall syndrome Denys–Drash syndrome Duane-radial ray syndrome MODY 7 MRX 89 Townes–Brocks syndrome Acrocallosal syndrome Myotonic dystrophy 2 2.5 Autoimmune polyendocrine syndrome type 1 (3) Helix-turn-helix domains 3.1 ARX Ohtahara syndrome Lissencephaly X2 MNX1 Currarino syndrome HOXD13 SPD1 synpolydactyly PDX1 MODY 4 LMX1B Nail–patella syndrome MSX1 Tooth and nail syndrome OFC5 PITX2 Axenfeld syndrome 1 POU4F3 DFNA15 POU3F4 DFNX2 ZEB1 Posterior polymorphous corneal dystrophy Fuchs' dystrophy 3 ZEB2 Mowat–Wilson syndrome 3.2 PAX2 Papillorenal syndrome PAX3 Waardenburg syndrome 1&3 PAX4 MODY 9 PAX6 Gillespie syndrome Coloboma of optic nerve PAX8 Congenital hypothyroidism 2 PAX9 STHAG3 3.3 FOXC1 Axenfeld syndrome 3 Iridogoniodysgenesis, dominant type FOXC2 Lymphedema–distichiasis syndrome FOXE1 Bamforth–Lazarus syndrome FOXE3 Anterior segment mesenchymal dysgenesis FOXF1 ACD/MPV FOXI1 Enlarged vestibular aqueduct FOXL2 Premature ovarian failure 3 FOXP3 IPEX 3.5 IRF6 Van der Woude syndrome Popliteal pterygium syndrome (4) β-Scaffold factors with minor groove contacts 4.2 Hyperimmunoglobulin E syndrome 4.3 Holt–Oram syndrome Li–Fraumeni syndrome Ulnar–mammary syndrome 4.7 Campomelic dysplasia MODY 3 MODY 5 SF1 SRY XY gonadal dysgenesis Premature ovarian failure 7 SOX10 Waardenburg syndrome 4c Yemenite deaf-blind hypopigmentation syndrome 4.11 Cleidocranial dysostosis (0) Other transcription factors 0.6 Kabuki syndrome Ungrouped TCF4 Pitt–Hopkins syndrome ZFP57 TNDM1 TP63 Rapp–Hodgkin syndrome / Hay–Wells syndrome / Ectrodactyly–ectodermal dysplasia–cleft syndrome 3 / Limb–mammary syndrome / OFC8 Transcription coregulators Coactivator: CREBBP Rubinstein–Taybi syndrome Corepressor: HR ( Atrichia with papular lesions ) v t e Extracellular ligand disorders Cytokine EDA Hypohidrotic ectodermal dysplasia Camurati–Engelmann disease Ephrin Craniofrontonasal dysplasia WNT Tetra-amelia syndrome TGF OFC 11 Fas ligand Autoimmune lymphoproliferative syndrome 1B Endothelin EDN3 Waardenburg syndrome IVb Hirschsprung's disease 4 Other DHH ( DHH XY gonadal dysgenesis ) BMP15 ( Premature ovarian failure 4 ) TSHB ( Congenital hypothyroidism 4 ) See also intercellular signaling peptides and proteinsTSHR, DUOX2, TPO, PAX8, FOXE1, TG, GLIS3, NKX2-1, IGSF1, TSHB, IYD, POU1F1, CDCA8, TRHR, INHBB, ATP5PD, ARPC5, IGF1, NGFR, NEFL, PPARGC1A, G6PD, GHR, GH1, NEFH, EGR1, RUNX2, BGLAP, NEFM, NKX2-5, KDM6A, ADNP, KMT2D, TXNRD2, STAR, NNT, MRAP, TBC1D24, TUBB1, TRAPPC9, ADAMTSL1, B3GLCT, THRA, DUOXA2, GNB1, SLC5A5, GATA6, MC2R, PRKAR1A, PDE4D, DUOX1, GNAS, SLC26A4, TTF2, SOX3, SLC20A1, EPHA5, PHPT1, TTF1, SLC26A7, ASAH1, DECR1, SEMA6A, ENO2, DUOXA1, CSF1R, NLRP2, CHD7, DNAJC17, CNR2, NLGN3, DNAJB1P1, ALB, EFNA5, HLA-A, ZBTB20, NRGN, SERPINA7, JAG1, THRB, PRL, TNF, TRH, PAX2, VDR, HHEX, NOS2, NBN, KSR1, NCOR1, PDCD6, LEP, DNAJB1, ACHE
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Adult Syndrome
Omim
Allelic disorders with overlapping features include EEC3 (604292), limb-mammary syndrome (LMS; 603543), AEC syndrome (106260), Rapp-Hodgkin syndrome (RHS; 129400), and SHFM4 (605289) Clinical Features Propping and Zerres (1993) described a family with at least 7 living members who were affected by a hitherto undescribed syndrome with variable expression, which bore a close resemblance to the EEC syndrome. ... Slavotinek et al. (2005) reported a patient with ADULT syndrome with phenotypic overlap with ulnar-mammary syndrome (UMS; 181450). ... Rinne et al. (2006) reported 3 unrelated families with ADULT syndrome of Finnish, Italian, and Danish origin, respectively. ... Inheritance Amiel et al. (2001) and Duijf et al. (2002) reported families with autosomal dominant inheritance of ADULT syndrome. Molecular Genetics Amiel et al. (2001) reported a missense mutation in the TP63 gene (N6H; 603273.0011), located at chromosome 3q27, in an isolated ADULT syndrome case. ... In a mother and daughter with ADULT syndrome, Reisler et al. (2006) identified an R227Q mutation in the TP63 gene (603273.0024).
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Wiedemann–steiner Syndrome
Wikipedia
Wiedemann–Steiner syndrome Other names Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome [1] Wiedemann–Steiner syndrome is a rare genetic disorder that causes developmental delay, unusual facial features , short stature, and reduction in muscle tone ( hypotonia ). ... The genetic basis for the syndrome was identified by Dr. Wendy D. ... The standard screening tests that take place during pregnancy that can diagnose syndromes such as Down Syndrome do not diagnose WSS. ... Atlas der klinischen Syndrome für Klinik und Praxis 3rd edition. ... CS1 maint: multiple names: authors list ( link ) External links [ edit ] WIEDEMANN–STEINER SYNDROME; WDSTS Wiedemann–Steiner syndrome
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Cerebral Dysgenesis–neuropathy–ichthyosis–keratoderma Syndrome
Wikipedia
Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome Other names CEDNIK syndrome [1] Specialty Dermatology Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome is a neurocutaneous condition caused by mutation in the SNAP29 gene. [2] Contents 1 Presentation 2 Pathophysiology 3 Diagnosis 4 See also 5 References 6 External links Presentation [ edit ] CEDNIK syndrome is a rare congenital condition that presents as severe developmental failure of the nervous system and the epidermis . ... Muscle biopsies show atrophy. [ citation needed ] Ophthalmologic evaluation show hypoplastic optic disk and electrophysiological studies were suggestive of decreased conductance in retina and features of macular atrophy. [ citation needed ] Mild sensorineural hearing lossis present. [ citation needed ] Magnetic resonance imaging of the brain shows abnormalities of the corpus callosum and cortical dysplasia, with pachygyria and polymicrogyria . [ citation needed ] See also [ edit ] Arthrogryposis–renal dysfunction–cholestasis syndrome List of cutaneous conditions Chediak Higashi syndrome Griscelli syndrome Hermansky-Pudlak syndrome Sjogren Larsson syndrome References [ edit ] ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: CEDNIK syndrome" . www.orpha.net . Retrieved 18 May 2019 . ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). ... C.; Sarig, O. (March 2011). "CEDNIK syndrome results from loss-of-function mutations in SNAP29". ... External links [ edit ] Classification D ICD - 10 : Q82.8 OMIM : 609528 MeSH : C537943 C537943, C537943 External resources Orphanet : 66631 v t e Inherited disorders of trafficking / vesicular transport proteins Vesicle formation Lysosome / Melanosome : HPS1 – HPS7 Hermansky–Pudlak syndrome LYST Chédiak–Higashi syndrome COPII : SEC23A Cranio-lenticulo-sutural dysplasia COG7 CDOG IIE APC: AP1S2 X-linked intellectual disability AP3B1 Hermansky–Pudlak syndrome 2 AP4M1 CPSQ3 Rab ARL6 BBS3 RAB27A Griscelli syndrome 2 CHM Choroideremia MLPH Griscelli syndrome 3 Cytoskeleton Myosin : MYO5A Griscelli syndrome 1 Microtubule : SPG4 Hereditary spastic paraplegia 4 Kinesin : KIF5A Hereditary spastic paraplegia 10 Spectrin : SPTBN2 Spinocerebellar ataxia 5 Vesicle fusion Synaptic vesicle : SNAP29 CEDNIK syndrome STX11 Hemophagocytic lymphohistiocytosis 4 Caveolae : CAV1 Congenital generalized lipodystrophy 3 CAV3 Limb-girdle muscular dystrophy 2B , Long QT syndrome 9 Vacuolar protein sorting : VPS33B ARC syndrome VPS13B Cohen syndrome DYSF Distal muscular dystrophy See also vesicular transport proteins This dermatology article is a stub .