Kartagener syndrome is a type of p rimary ciliary dyskinesia that is also characterized by situs inversus totalis (mirror-image reversal of internal organs). ... Although scientists have identified many of the genes associated with Kartagener syndrome, the genetic cause of some cases is unknown. There is no cure for Kartagener syndrome. Treatment varies based on the signs and symptoms present in each person but may include airway clearance therapy and antibiotics.
A number sign (#) is used with this entry because primary ciliary dyskinesia-22 (CILD22) is caused by homozygous or compound heterozygous mutation in the ZMYND10 gene (607070) on chromosome 3p21. For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). Description Primary ciliary dyskinesia-22 is an autosomal recessive disorder caused by defective structure and function of cilia or flagella. Ciliary dysfunction causes respiratory distress in term neonates, impaired mucociliary clearance, chronic cough, sinusitis, bronchiectasis, and male infertility. Defective motility of embryonic nodal cilia leads to situs abnormalities in about 50% of patients.
A number sign (#) is used with this entry because of evidence that primary ciliary dyskinesia-21 (CILD21) is caused by homozygous mutation in the DRC1 gene (615288) on chromosome 2p23. Description Primary ciliary dyskinesia-21 is an autosomal recessive ciliopathy characterized by infantile onset of chronic sinopulmonary infections resulting from abnormal ciliary function. Electron microscopy of respiratory epithelial cells shows normal outer and inner dynein arms, but absence of nexin links and defects in the nexin-dynein regulatory complex (N-DRC). Video microscopy of patient cilia shows an increased beat frequency with decreased bending amplitude (summary by Wirschell et al., 2013). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).
A number sign (#) is used with this entry because primary ciliary dyskinesia-20 (CILD20) is caused by homozygous or compound heterozygous mutation in the CCDC114 gene (615038) on chromosome 19q13. Description CILD20 is an autosomal recessive ciliopathy characterized by infantile onset of chronic sinopulmonary infections resulting from immotile cilia and defective clearance. Patients may also have situs inversus or cardiac anomalies. Electron microscopy of respiratory epithelial cells shows absence of the outer dynein arms. Unlike other forms of CILD, patients with CILD20 do not appear to be infertile. For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400.
A number sign (#) is used with this entry because primary ciliary dyskinesia-19 (CILD19) with or without situs inversus is caused by homozygous mutation in the LRRC6 (614930) on chromosome 8q24. Description Primary ciliary dyskinesia-19 is an autosomal recessive ciliopathy characterized by chronic sinopulmonary infections, asthenospermia, and immotile cilia. Respiratory epithelial cells and sperm flagella of affected individuals lack both the inner and outer dynein arms. About 50% of patients have situs inversus (summary by Kott et al., 2012). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400.
Imtiaz et al. (2015) designated the phenotype a subtype of primary ciliary dyskinesia, Kartagener syndrome, based on the presence of situs inversus in addition to chronic sinusitis and bronchiectasis.
A number sign (#) is used with this entry because of evidence that primary ciliary dyskinesia-33 (CILD33) is caused by homozygous mutation in the GAS8 gene (605178) on chromosome 16q24. Description Primary ciliary dyskinesia-33 is an autosomal recessive disorder characterized by recurrent upper and lower respiratory infections due to defective ciliary clearance and resulting in chronic lung disease. Some patients may have recurrent ear infections resulting in conductive hearing impairment. Examination of respiratory cilia shows subtle movement defects. Laterality defects have not been reported (summary by Olbrich et al., 2015). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).
A number sign (#) is used with this entry because of evidence that primary ciliary dyskinesia-16 (CILD16) is caused by homozygous mutation in the DNAL1 gene (610062) on chromosome 14q24. Description Primary ciliary dyskinesia-16 is an autosomal recessive disorder characterized by early infantile onset of respiratory distress associated with absence of ciliary outer dynein arms (summary by Mazor et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). Clinical Features Mazor et al. (2011) reported 3 patients, including 2 sibs, from 2 consanguineous Bedouin families with primary ciliary dyskinesia. The patients had classic features of the disorder, including neonatal respiratory distress, chronic sinopulmonary infection leading to severe morbidity, and complete situs inversus.
A number sign (#) is used with this entry because of evidence that primary ciliary dyskinesia-6 (CILD6) is caused by mutation in the TXNDC3 gene (NME8; 607421) on chromosome 7p14. One such patient has been reported. For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). Clinical Features Duriez et al. (2007) reported a 13-year-old girl with primary ciliary dyskinesia. She had chronic respiratory infections with bronchiectasis, chronic sinusitis, and serous otitis. She also had situs ambiguus with the heart and the liver located centrally.
A number sign (#) is used with this entry because of evidence that primary ciliary dyskinesia-30 (CILD30) is caused by homozygous mutation in the CCDC151 gene (615956) on chromosome 19p13. For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). Clinical Features Hjeij et al. (2014) reported 5 patients from 3 unrelated families with primary ciliary dyskinesia. All had recurrent upper and lower airway disease with chronic respiratory symptoms and bronchiectasis, as well as nasal blockages, polyps, and otitis media. Four of the 5 patients had very early involvement, with neonatal respiratory distress.
A number sign (#) is used with this entry because primary ciliary dyskinesia-18 (CILD18) with or without situs inversus is caused by homozygous mutation in the HEATR2 gene (DNAAF5; 614864) on chromosome 7p22. For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400. Description Primary ciliary dyskinesia-18 is an autosomal recessive disorder characterized by early infantile onset of recurrent sinopulmonary infections due to ciliary dysfunction and impaired airway clearance. Males are infertile and about half of patients have situs inversus. Electron microscopy of cilia shows a defect of the outer and inner dynein arms and impaired ciliary function (summary by Horani et al., 2012). Clinical Features Lie et al. (2010) reported 9 Amish patients with primary ciliary dyskinesia.
For a general description and a discussion of genetic heterogeneity of primary ciliary dyskinesia and Kartagener syndrome, see CILD1 (244400). Description Primary ciliary dyskinesia is an autosomal recessive disorder resulting from loss of normal ciliary function. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus, and occurs in approximately half of patients with ciliary dyskinesia. ... Two additional family members had these features and situs inversus, consistent with Kartagener syndrome. One affected male had infertility.
For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia and the Kartagener syndrome, see CILD1 (244400). Description Primary ciliary dyskinesia is an autosomal recessive disorder resulting from loss of normal ciliary function. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus, and occurs in approximately half of patients with ciliary dyskinesia. ... Clinical Features Schwabe et al. (2008) reported a German family in which 6 sibs had primary ciliary dyskinesia, 1 of whom also had situs inversus totalis, consistent with Kartagener syndrome. Clinical features included chronic respiratory infections, chronic sinusitis, recurrent bronchitis, and pneumonia beginning in infancy or early childhood. ... One of the patients had Kartagener syndrome. In a patient with CILD7, Lucas et al. (2012) identified compound heterozygous mutations in the DNAH11 gene (603339.0004 and 603339.0005).
A number sign (#) is used with this entry because of evidence that primary ciliary dyskinesia-35 (CILD35) is caused by homozygous mutation in the TTC25 gene (617095) on chromosome 17q21. Description Primary ciliary dyskinesia-35 is an autosomal recessive disorder characterized by recurrent upper and lower respiratory infections due to defective ciliary function. Examination of respiratory cilia shows lack of outer dynein arms (ODAs) and immotile cilia. Some patients may have laterality defects (summary by Wallmeier et al., 2016). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).
A number sign (#) is used with this entry because of evidence that X-linked primary ciliary dyskinesia-36 (CILD36) is caused by hemizygous mutation in the PIH1D3 gene (300933) on chromosome Xq22. Description CILD36 is an X-linked recessive disorder characterized by chronic airway disease and recurrent sinopulmonary infections beginning in childhood and caused by defective ciliary function. Affected individuals also have infertility due to defective sperm flagella. About half of patients have laterality defects due to ciliary dysfunction at the embryonic node (summary by Paff et al., 2017). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).
Three patients had neonatal respiratory distress syndrome, 1 patient had situs inversus totalis, and all patients had low nasal nitric oxide production.
The cilia were immotile and mucociliary clearance was completely lacking, as in the Kartagener syndrome, but normal in the parents and a clinically unaffected sib.
A number sign (#) is used with this entry because of evidence that primary ciliary dyskinesia-32 (CILD32) is caused by homozygous or compound heterozygous mutation in the RSPH3 gene (615876) on chromosome 6q25. Description Primary ciliary dyskinesia-32 is an autosomal recessive disorder caused by defective structure and function of cilia. Ciliary dysfunction causes respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility. The ciliary defect affects the central pair complex and radial spokes of the 9+2 motile cilia; affected individuals do not have situs abnormalities (summary by Jeanson et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).
A number sign (#) is used with this entry because primary ciliary dyskinesia-11 (CILD11) is caused by homozygous or compound heterozygous mutation in the RSPH4A gene (612647) on chromosome 6q22. For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). Clinical Features Castleman et al. (2009) reported 5 families, 4 of whom were of Pakistani origin, with primary ciliary dyskinesia. Clinical features included reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, and nasal symptoms such as rhinorrhea, rhinitis, nasal blockage, and sinusitis. There was also ear obstruction with consequent hearing problems, low weight, and short stature.
A number sign (#) is used with this entry because primary ciliary dyskinesia-27 (CILD27) is caused by homozygous mutation in the CCDC65 gene (611088) on chromosome 12q13. Description Primary ciliary dyskinesia-27 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis. Respiratory cilia from patients show defects in the inner dynein arms and nexin links. Situs inversus has not been reported in these patients (summary by Austin-Tse et al., 2013).
For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia and Kartagener syndrome, see CILD1 (244400). Mapping By genomewide analysis of 52 Polish families in which at least 1 member had Kartagener syndrome, Geremek et al. (2006) found linkage to a 3.5-cM (2.82 Mb) region on chromosome 15q between markers D15S973 and D15S1037. ... Geremek et al. (2006) concluded that this locus may be responsible for up to 60% of Kartagener syndrome families. No common haplotypes were identified. ... In the same 31 families with Kartagener syndrome linked to 15q, Geremek et al. (2008) refined the candidate region to a 1.8-Mb segment containing 18 known genes.
Affected individuals had a sinopulmonary syndrome characterized by otitis, rhinosinusitis, bronchiectasis, chronic obstructive pulmonary disease, and, in some cases, neonatal respiratory distress.
A number sign (#) is used with this entry because of evidence that primary ciliary dyskinesia-34 (CILD34) is caused by homozygous mutation in the DNAJB13 gene (610263) on chromosome 11q13. Description Primary ciliary dyskinesia-34 (CILD34) is an autosomal recessive disorder characterized by childhood onset of recurrent sinopulmonary infections due to impaired ciliary function. Affected males are infertile due to impaired sperm function and viability. Laterality defects have not been observed in this type of CILD (summary by El Khouri et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).
A number sign (#) is used with this entry because primary ciliary dyskinesia-29 (CILD29) is caused by homozygous or compound heterozygous mutation in the CCNO gene (607752) on chromosome 5q11. Description Primary ciliary dyskinesia-29 is an autosomal recessive disorder characterized by early childhood onset of recurrent respiratory infections due to defective mucociliary clearance. Patients do not have situs inversus (summary by Wallmeier et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400. Clinical Features Wallmeier et al. (2014) reported 16 patients from 10 families who had recurrent upper and lower respiratory infections from early childhood.
A number sign (#) is used with this entry because of evidence that primary ciliary dyskinesia-17 (CILD17) is caused by homozygous mutation in the CCDC103 gene (614677) on chromosome 17q21. Description Primary ciliary dyskinesia-17 is an autosomal recessive disorder characterized by early infantile onset of respiratory distress associated with a defect in the function of ciliary outer dynein arms. Situs inversus is variable (summary by Panizzi et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). Clinical Features Panizzi et al. (2012) reported 10 patients from 6 families with primary ciliary dyskinesia. Five of the families were consanguineous and of Pakistani origin, and 1 was nonconsanguineous and of German origin.
A number sign (#) is used with this entry because primary ciliary dyskinesia-12 (CILD12) is caused by homozygous mutation in the RSPH9 gene (612648) on chromosome 6p21. For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). Clinical Features Castleman et al. (2009) reported 2 unrelated but consanguineous Bedouin families with primary ciliary dyskinesia. One family was from the United Arab Emirates (Emirati), and the other was from Israel. Clinical features included reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, and nasal symptoms such as rhinorrhea, rhinitis, nasal blockage, and sinusitis.
Schidlow et al. (1982) reported a family in which 1 sib had Kartagener syndrome and another had the polysplenia syndrome (208530). ... Two female third cousins had Kartagener syndrome. Schidlow and Katz (1983) noted that structurally normal respiratory cilia may be found in otherwise typical Kartagener syndrome. ... Other Features Holmes et al. (1968) found low serum levels of gamma A globulin in some patients with Kartagener syndrome. Patients with the Kartagener syndrome may have anosmia (Goldstein, 1979). ... The authors pointed to potential genomic regions on 12 chromosome arms harboring candidate loci. Nomenclature Kartagener syndrome is sometimes known as the Siewert syndrome (Siewert, 1904). ... Merlino et al. (1991) created a transgenic mouse line exhibiting an immotile sperm syndrome that duplicated the features of Kartagener syndrome.
For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia and the Kartagener syndrome, see CILD1 (244400). Description Primary ciliary dyskinesia is an autosomal recessive disorder resulting from loss of normal ciliary function. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus, and occurs in approximately half of patients with ciliary dyskinesia. ... Two of 4 affected individuals exhibited situs inversus, typical for Kartagener syndrome, due to randomization of the left/right body axis. Mapping In an Arabic family, Omran et al. (2000) performed a total genome scan with 340 highly polymorphic microsatellites and localized the locus for Kartagener syndrome to a region of homozygosity by descent on chromosome 5p15-p14, with a maximum parametric multipoint lod score of 3.51, flanked by markers D5S2095 and D5S502 within an interval of 20 cM sex-averaged genetic distance. ... Molecular Genetics Olbrich et al. (2002) found 7 individuals from 6 families with primary ciliary dyskinesia or Kartagener syndrome who had mutations in the DNAH5 gene (see, e.g., 603335.0001-603335.0003).
A number sign (#) is used with this entry because of evidence that primary ciliary dyskinesia-5 (CILD5) is caused by homozygous mutation in the HYDIN gene (610812) on chromosome 16q22. For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). Description CILD5 is an autosomal recessive disorder characterized by early onset of a progressive decline in lung function due to an inability to clear mucus and particles from the airways. Affected individuals have recurrent infections of the sinuses, ears, airways, and lungs. Sperm motility is also decreased. Individuals with CILD5 do not have situs inversus (summary by Olbrich et al., 2012).
A number sign (#) is used with this entry because of evidence that primary ciliary dyskinesia-26 (CILD26) is caused by homozygous or compound heterozygous mutation in the C21ORF59 gene (615494) on chromosome 21q22. Description Primary ciliary dyskinesia-26 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis. About half of patients show laterality defects, including situs inversus totalis. Respiratory cilia from patients show defects in the inner and outer dynein arms (summary by Austin-Tse et al., 2013).
A number sign (#) is used with this entry because of evidence that primary ciliary dyskinesia-10 (CILD10) is caused by homozygous mutation in the KTU gene (DNAAF2; 612517) on chromosome 14q21. For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). Clinical Features Omran et al. (2008) reported 3 individuals with primary ciliary dyskinesia from 2 families, both consanguineous, who carried mutations in the KTU gene. In all affected individuals there was no detectable KTU protein, and transmission electron microscopy of respiratory cilia and sperm tails identified abnormal axonemal dynein arms. All 3 affected individuals suffered from chronic otitis media, sinusitis, and recurrent pneumonia since birth.
Primary ciliary dyskinesia (PCD) is an inherited disorder which affects the movement of tiny hair-like structures on body cells, known as cilia. Cilia are present on many types of cells, and particularly on those in the respiratory tract. In PCD, the cilia are abnormal, and don’t move correctly. People with this disorder cannot clear the mucous and fluid in their lungs and airways. This leads to frequent respiratory infections, and continuous nasal congestion and coughing. In addition, because cilia are involved in how the organs form and develop, many people with PCD may have abnormal placement of the organs in the body, known as situs abnormalities.
In a 12-year-old girl with obstructive lung disease, the offspring of first-cousin parents, Afzelius et al. (1985) found that the clinical characteristics of the immotile cilia syndrome (see 244400), including chronic rhinitis, sinusitis, bronchitis, severely decreased mucociliary clearance of the lungs, and nasal polyps, were associated with nasal cilia about twice normal in length but normal in cross-sectional dimension.
When someone with primary ciliary dyskinesia has situs inversus totalis, they are often said to have Kartagener syndrome. Approximately 12 percent of people with primary ciliary dyskinesia have a condition known as heterotaxy syndrome or situs ambiguus, which is characterized by abnormalities of the heart, liver, intestines, or spleen. ... In addition, affected individuals may lack a spleen (asplenia) or have multiple spleens (polysplenia). Heterotaxy syndrome results from problems establishing the left and right sides of the body during embryonic development.
For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia and Kartagener syndrome, see CILD1 (244400). Mapping Jeganathan et al. (2004) studied 4 Israeli Druze families segregating primary ciliary dyskinesia.
Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies. ... Differential diagnosis The differential diagnosis should include chondrodysplasia punctata (the rhizomelic, Conradi-Hunermann, and X-linked dominant types) and Kabuki syndrome (see these terms). Genetic counseling The occurrence of two affected children within the Manitoba Mennonite community (a genetic isolate) suggests autosomal recessive inheritance, but other modes of transmission could not be excluded.
A number sign (#) is used with this entry because of evidence that CODAS syndrome is caused by homozygous or compound heterozygous mutation in the LONP1 gene (605490) on chromosome 19p13. ... Clinical Features In a 3-year-old girl of Mennonite German background, Shebib et al. (1991) described a newly recognized multiple congenital anomalies syndrome characterized by cerebral, ocular, dental, auricular, and skeletal abnormalities and designated by the acronym CODAS syndrome. ... In addition, this patient presented 4 features previously unreported in CODAS syndrome: ventricular septal defect with pulmonary hypertension, extrahepatic bile duct atresia, dilation of the left ureter, and bilateral laryngeal palsy. ... Royer-Bertrand et al. (2015) noted similarities between the features of the Moroccan boy described by Marlin et al. (2010) and those of EVEN-plus syndrome (EVPLS; 616854). Strauss et al. (2015) studied 8 children with CODAS syndrome from 6 sibships in the Old Order Amish community of Pennsylvania who were homozygous for a missense mutation in the LONP1 gene (see MOLECULAR GENETICS). ... All exhibited the characteristic features of CODAS syndrome, with broad skull and flattened midface, helix hypoplasia, ptosis, grooved nasal tip, anteverted nares, and with advancing age, short stature, scoliosis, genu valgum, and pes valgus.
Genotype-Phenotype Correlations All reported individuals to date with DFNMYP syndrome have homozygous nonsense SLITRK6 variants. ... Prevalence Due to the rarity of the syndrome, no prevalence estimates have been established. ... Severity of hearing loss is variable and may be progressive. Stickler syndrome, caused by mutation of COL2A1 , COL11A1 , or COL11A2 , is inherited in an autosomal dominant manner; Stickler syndrome caused by mutation of COL9A1 , COL9A2 , or COL9A3 is inherited in an autosomal recessive manner. Although myopia and sensorineural hearing loss are part of DFNMYP syndrome, individuals with DFNMYP syndrome do not manifest the skeletal and craniofacial findings traditionally seen in individuals with Stickler syndrome. Donnai-Barrow syndrome (DBS), a multiple congenital anomaly syndrome characterized by typical craniofacial features, ocular findings, sensorineural hearing loss, brain anomalies, intellectual disability, and congenital diaphragmatic hernia and/or omphalocele.
Coagulopathy can be caused by thinning of the skin ( Cushing's syndrome ), such that the skin is weakened and is bruised easily and frequently without any trauma or injury to the body. [2] Also, coagulopathy can be contributed by impaired wound healing or impaired clot formation. [3] Contents 1 Signs and symptoms 1.1 Complications 2 Causes 2.1 Acquired 2.2 Autoimmune causes of acquired coagulation disorders 2.3 Causes other than coagulation 3 Genetic 4 Diagnosis 4.1 Comparing coagulation tests 5 Treatments 6 References 7 External links Signs and symptoms [ edit ] Symptom Disorders Petechiae (red spots) Wiskott–Aldrich syndrome , where they may resemble a few bruises [4] Acute leukemia [5] Chronic leukemia [5] Vitamin K deficiency [6] Purpura and ecchymoses Acute leukemia [5] Chronic leukemia [5] Vitamin K deficiency [6] Blood in stool Wiskott–Aldrich syndrome , especially in infancy [4] Acute leukemia [5] Bleeding gingiva (gums) Wiskott–Aldrich syndrome [4] Acute leukemia [5] Chronic leukemia [5] Prolonged nose bleeds Wiskott–Aldrich syndrome [4] Complications [ edit ] Following are some complications of coagulopathies, some of them caused by their treatments: Complication Disorders Soft tissue bleeding , e.g. deep-muscle bleeding, leading to swelling, numbness or pain of a limb. ... Viral hemorrhagic fevers include dengue hemorrhagic fever and dengue shock syndrome. Leukemia may also cause coagulopathy. ... Another example is antiphospholipid syndrome , an autoimmune, hypercoagulable state. [ citation needed ] Causes other than coagulation [ edit ] Bleeding diathesis may also be caused by impaired wound healing (as in scurvy ), or by thinning of the skin, such as in Cushing's syndrome . ... Rare examples are Bernard–Soulier syndrome , Wiskott–Aldrich syndrome and Glanzmann's thrombasthenia . ... External links [ edit ] Classification D ICD - 10 : D69.9 ICD - 9-CM : 287.9 MeSH : D006474 DiseasesDB : 1442 v t e Disorders of bleeding and clotting Coagulation · coagulopathy · Bleeding diathesis Clotting By cause Clotting factors Antithrombin III deficiency Protein C deficiency Activated protein C resistance Protein S deficiency Factor V Leiden Prothrombin G20210A Platelets Sticky platelet syndrome Thrombocytosis Essential thrombocythemia DIC Purpura fulminans Antiphospholipid syndrome Clots Thrombophilia Thrombus Thrombosis Virchow's triad Trousseau sign of malignancy By site Deep vein thrombosis Bancroft's sign Homans sign Lisker's sign Louvel's sign Lowenberg's sign Peabody's sign Pratt's sign Rose's sign Pulmonary embolism Renal vein thrombosis Bleeding By cause Thrombocytopenia Thrombocytopenic purpura : ITP Evans syndrome TM TTP Upshaw–Schulman syndrome Heparin-induced thrombocytopenia May–Hegglin anomaly Platelet function adhesion Bernard–Soulier syndrome aggregation Glanzmann's thrombasthenia platelet storage pool deficiency Hermansky–Pudlak syndrome Gray platelet syndrome Clotting factor Hemophilia A/VIII B/IX C/XI von Willebrand disease Hypoprothrombinemia/II Factor VII deficiency Factor X deficiency Factor XII deficiency Factor XIII deficiency Dysfibrinogenemia Congenital afibrinogenemia Signs and symptoms Bleeding Bruise Hematoma Petechia Purpura Nonthrombocytopenic purpura By site head Epistaxis Hemoptysis Intracranial hemorrhage Hyphema Subconjunctival hemorrhage torso Hemothorax Hemopericardium Pulmonary hematoma abdomen Gastrointestinal bleeding Hemobilia Hemoperitoneum Hematocele Hematosalpinx joint Hemarthrosis
Allelic disorders include Waardenburg syndrome type 2E (WS2E; 611584) and Waardenburg syndrome type 4C (WS4C; 613266). Description PCWH syndrome is a complex neurocristopathy that includes features of 4 distinct syndromes: peripheral demyelinating neuropathy (see 118200), central dysmyelination, Waardenburg syndrome, and Hirschsprung disease (see 142623) (Inoue et al., 2004). ... The extended spectrum of the Waardenburg-Shah syndrome phenotype was considered relevant to the brain expression of SOX10 during human embryonic and fetal development. ... Both patients had hypopigmentation and neurosensory deafness, indicating dysmyelinating Waardenburg syndrome, and both had long segment Hirschsprung disease. ... Genotype/Phenotype Correlations In addition to causing the neurologic variant of Waardenburg-Shah syndrome, mutations in the SOX10 gene also cause Waardenburg-Shah syndrome (277580), which has a more restricted phenotype.
Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity. ... MRI often shows defects of the semi-circular canals and agenesis of the olfactory bulbs. Kallmann syndrome can be associated. Etiology Most of the cases are caused by mutations involving the SOX10 gene (22q13.1, coding for the SOX10 transcription factor). ... Differential diagnosis The disease overlaps with central or peripheral neuropathies/dysmyelination, and the diagnosis may be difficult in absence of the typical Waardenburg syndrome depigmentation. Antenatal diagnosis Prenatal diagnosis is possible by fetal DNA mutation analysis if a causal mutation is identified in a member of the family (either in case of an affected parent (a rare situation) or due to the risk of germline mosaicism).
Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies.
Clinical Features Richieri-Costa et al. (1989) reported an apparently distinct MCA syndrome in a 6-month-old boy, born of first-cousin parents, who presented with an extraordinary picture of microbrachycephaly, wide forehead, marked hypertelorism, broad nose with midline groove with a bilateral small blind dimple in each side, hypospadias, syndactyly between fingers 3 and 4, broad thumbs, and broad halluces. ... Teebi (1992) referred to the condition as the Naguib-Richieri-Costa syndrome. Chaabouni et al. (2008) reported a 22-day-old Tunisian boy, born of first-cousin parents, with acrofrontofacionasal dysostosis associated with genitourinary anomalies.
Normal height and the absence of facial dysmorphism and optic atrophy distinguished this syndrome from Cockayne syndrome (216400), infantile Refsum syndrome (see 601539), Mirhosseini Holmes-Walton syndrome (268050), and micro syndrome (600118).
This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. ... Clinical description In addition to frontoparietal alopecia, the remaining scalp hair was also sparse, and axillary and pubic hair was absent. Etiology In contrast to the syndrome of primary hypergonadotropic hypogonadism and partial alopecia (see this term), streak or absent ovaries, hypoplastic uterus, and microcephaly were not reported in the affected female members of this Lebanese family.
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI.
Isodicentric chromosome 15 syndrome is a chromosome abnormality that affects many different parts of the body. ... Most cases of isodicentric chromosome 15 syndrome occur sporadically in people with no family history of the condition.
Severe intellectual disability-progressive spastic diplegia syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, and behavioral anomalies (autistic features, aggression or auto-aggressive behavior, sleep disturbances).
Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability .
She had intrauterine growth retardation, and birth was complicated by the umbilical cord wrapped around the neck and neonatal respiratory distress syndrome. In the first years of life, she developed progressive microcephaly, truncal hypotonia, delayed psychomotor development, and poor speech.
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability.
A number sign (#) is used with this entry because of evidence that syndromic microphthalmia-13 (MCOPS13) is caused by mutation in the HMGB3 gene (300193) on chromosome Xq28. ... Inheritance The transmission pattern of a microphthalmia syndrome in the family reported by Goldberg and McKusick (1971) suggested X-linked inheritance. Molecular Genetics In an affected man from the family with syndromic microphthalmia originally reported by Goldberg and McKusick (1971), Scott et al. (2014) performed exome sequencing and identified a 2-bp insertion in the HMGB3 gene (300193.0001) that was confirmed by Sanger sequencing in the patient and his unaffected mother. Analysis of HMGB3 in 13 unrelated male patients with microphthalmia syndromes revealed no further mutations.
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability with limited or absent speech and language, short stature, acquired microcephaly, kyphoscoliosis or scoliosis, and behavioral disturbances that include hyperactivity, stereotypy and aggressiveness.
Molecular Genetics Najmabadi et al. (2011) performed homozygosity mapping followed by exon enrichment and next-generation sequencing in 136 consanguineous families (over 90% Iranian and less than 10% Turkish or Arabic) segregating syndromic or nonsyndromic forms of autosomal recessive intellectual disability.
6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations.
Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by congenital, persistent microcephaly, low birth weight, short stature, childhood-onset seizures, global development delay, mild intellectual disability, and adolescent or young adult-onset diabetes mellitus.
A number sign (#) is used with this entry because of evidence that microcephaly, short stature, and impaired glucose metabolism-1 (MSSGM1) is caused by homozygous mutation in the TRMT10A gene (616013) on chromosome 4q23. Another syndrome involving microcephaly, short stature, and impaired glucose metabolism (MSSGM2; 616817) is caused by mutation in the PPP1R15B gene (613257) on chromosome 1q32. In addition, Wolcott-Rallison syndrome (226980), characterized by multiple epiphyseal dysplasia as well as microcephaly, short stature, and early-onset diabetes mellitus, is caused by mutation in the EIF2AK3 gene (604032) on chromosome 2p11.
Adams–Nance syndrome Specialty Cardiology Adams–Nance syndrome is a medical condition consisting of persistent tachycardia , paroxysmal hypertension and seizures .
2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.
Hypomyelination neuropathy-arthrogryposis syndrome is a rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (incl. talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life.
A number sign (#) is used with this entry because of evidence that lethal congenital contracture syndrome-7 (LCCS7) is caused by homozygous mutation in the CNTNAP1 gene (602346) on chromosome 17q21. ... Description Lethal congenital contracture syndrome-7, an axoglial form of arthrogryposis multiplex congenita (AMC), is characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period (Laquerriere et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of lethal congenital contracture syndrome, see LCCS1 (253310). Clinical Features Laquerriere et al. (2014) reported 7 newborns from 4 unrelated consanguineous families (A641, K182, K199, B207) who were diagnosed with distal arthrogryposis multiplex congenita by fetal ultrasound between 28 and 32 weeks of gestation.
A number sign (#) is used with this entry because it represents a contiguous gene deletion syndrome on chromosome 15q14. The deleted region includes the MEIS2 gene (601740). ... INHERITANCE - Autosomal dominant HEAD & NECK Face - High forehead - Short philtrum Ears - Low-set ears - Posteriorly rotated ears Eyes - Arched eyebrows Mouth - Cleft palate - Cleft lip - Everted lower lip - Tented upper lip CARDIOVASCULAR Heart - Atrial septal defect - Ventricular septal defect NEUROLOGIC Central Nervous System - Delayed psychomotor development - Intellectual disability, variable Behavioral Psychiatric Manifestations - Autistic features (in some patients) MISCELLANEOUS - Onset at birth - Contiguous gene deletion syndrome MOLECULAR BASIS - Contiguous gene deletion of between 0.6 - 4.8 Mb on chromosome 15q14 ▲ Close
The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation. ... The clinical picture is opposite to that of patients with Sotos syndrome (macrocephaly, overgrowth and advanced bone age; see this term).