Fifty-three loci have presently been reported. The 17 deafness forms for which the genes have been identified are presented. [ommbid.mhmedical.com]

Angulated femora are also present in CD and OI type II ( 178 ). [basicmedicalkey.com]

CLINICAL AND EXPERIMENTAL RHEUMATOLOGY, vol.24, pp.S120-S122, 2006 Topaloglu R., Kazik M., Saatci, Kalyoncu M., Cil B., Akalan N., "An unusual presentation of classic polyarteritis nodosa in a child", PEDIATRIC NEPHROLOGY, vol.20, pp.1011-1015, 2005 [aves.ktu.edu.tr]

Karthik Reddy, N Rajendra Prasad, P Amaresh Reddy DOI :10.4103/2230-8210.119527 PMID :24251130 [ABSTRACT] [HTML Full text] [PDF] [Mobile Full text] [EPub] [Citations (3) ] [PubMed] [Sword Plugin for Repository] Beta Diabetes insipidus as a presenting [ijem.in]

Short trunk child could present short neck or small chest or protuberant abdomen. [intechopen.com]

• HELLP Syndrome

  syndrome; Hematuria (familial benign); Heme oxygenase-1 deficiency; Hemiplegic migraine; Hemochromotosis; Hemoglobin H disease; Hemolytic anemia due to ADA excess; Hemolytic anemia due to adenylate kinase deficiency; Hemolytic anemia due to band 3 defect [ic.gc.ca]

• Broad Nasal Bridge

  nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ [rarediseases.info.nih.gov]

• Seizure

  Hemiplegic Migraine (FHM) Familial Mediterranean Fever (FMF) Familial Thoracic Aortic Aneurysm and Dissection (TAAD) Fish Eye Disease (FED) [E78.6] Fragile X Syndrome, FXPOI, FXTAS Friedreich's Ataxia Gaucher Disease Generalized Epilepsy with Febrile Seizures [medical-genetics.de]

  Plus, Type 1 5 Generalized Epilepsy With Febrile Seizures Plus, Type 2 3 Generalized Epilepsy With Febrile Seizures Plus, Type 3 5 Generalized Epilepsy With Febrile Seizures Plus, Type 7 5 Generalized Epilepsy with Febrile Seizures Plus, Type 9 3 Genitopatellar [preventiongenetics.com]

  […] neuropathy Primary ciliary dyskinesia Progressive external ophthalmoplegia Progressive familial intrahepatic cholestasis Propionic acidemia Proximal myopathy with extrapyramidal signs Pseudoachondroplasia Pseudohermaphroditism Pyridoxal phosphate-responsive seizures [igenomix.us]

  Dahlberg Borer Newcomer syndrome Daish Hardman Lamont syndrome Dandy Walker facial hemangioma Dandy Walker malformation postaxial polydactyly Dandy Walker syndrome recessive form Dandy-walker malformation with mental retardation, basal ganglia disease, and seizures [wikidoc.org]

  Functioning Autism lfalymphocyte function associated antigen lfdlarge for dates lfdlow fat diet lfdlow forceps delivery lflli fraumeni like lfpleft frontoposterior lfrhlh fsh releasing hormone lfsli fraumeni syndrome lfslow fat spread lfsslight fixation seizure [medabb.com]

• Chorea

  […] gyration and polymicrogyria (BLCPMG) OCLN Baraitser-Winter syndrome ACTB, ACTG1 Bardet-Biedl Syndrom BBS1, BBS2, BBS10 Barth syndrome TAZ Bartter Syndrom CLCNKA, CLCNKB, BSND, KCNJ1, SLC12A1, CASR Beckwith-Wiedemann- Syndrom ME030-C3 benigne hereditäre Chorea [meduniwien.ac.at]

  Syndrome Subacute Sclerosing Panencephalitis Succinic Semialdehyde Dehydrogenase Deficiency Sudden Infant Death Syndrome Sudden Unexplained Death in Childhood Summitt Syndrome Susac's Syndrome Sutton Disease II Sweet Syndrome Swyer syndrome Sydenham Chorea [arrayit.com]

  CPT-deficiency type 1A Hepatitis B susceptibility Hepatocellular carcinoma Hepatorenal tyrosinemia Hereditary amyloidosis Hereditary Angioedema Hereditary Angioedema 1 Hereditary Angioedema 2 Hereditary Angioedema 3 Hereditary arrhythmia Hereditary benign chorea [moldiag.com]

  Biotin-Responsive 4 Basel-Vanagait-Smirin-Yosef Syndrome 1 Becker Muscular Dystrophy 3 Beckwith-Wiedemann Syndrome 1 Behr Syndrome 1 Benign Familial Hematuria 1 Benign Familial Neonatal Seizures 1 1 Benign Familial Neonatal-Infantile Seizures 2 Benign Hereditary Chorea [preventiongenetics.com]

• Shortened Long Bone

  There is a range of skeletal abnormalities including short ribs, hypoplastic iliac bones with a snaillike configuration, hypoplastic flattened vertebral bodies, and shortened long bones. [basicmedicalkey.com]

Please consult a physician for specific treatment recommendations. [kidney.org]

[…] to GH treatment. [karger.com]

Waiting for new, more effective and specific treatments in patients with ACH, r-hGH treatment may be beneficial in the treatment of short stature in achondroplasia. [intechopen.com]

FDA-Approved Treatments The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products. [rarediseases.info.nih.gov]

For this reason, it’s vital to seek immediate treatment for any suspected kidney issues. [healthline.com]

Forecast The prognosis of hereditary nephritis is always serious. [iliveok.com]

For those with classic Alport syndrome, hearing aids are often required in teenage or young adult years. [ citation needed ] Prognosis [ edit ] Studies of the life expectancy of patients with Alport syndrome are rare, but one 2012 study of 456 male patients [en.wikipedia.org]

[…] absent radius in TAR syndrome, multiple epiphyseal centres in the patella I some form of diastrophic dysplasia) Soft tissue : wasting or excessive soft tissues, contractures and calcifications should be looked for, as they are involved in patient’s prognosis [intechopen.com]

"Etiology And Outcome Of Acute Kidney Injury In Children", PEDIATRIC NEPHROLOGY, vol.25, pp.1453-1461, 2010 Mutlu M., Cansu A., Karakas T., Kalyoncu M., Erduran E., "Pattern of pediatric poisoning in the east Karadeniz region between 2002 and 2006: [aves.ktu.edu.tr]

多発性嚢胞腎 Polycystic Kidney disease, unknown genetic etiology 多発性嚢胞腎、遺伝子型不明 1 不要 有 HPS1264 HPS1265 HPS1266 HPS1267 HPS1268 HPS1269 Polycystic Kidney disease (ADPKD) 常染色体優性多発性嚢胞腎 1 不要 有 HPS2192 HPS2193 HPS2194 HPS2195 HPS2196 HPS2197 2 不要 有 HPS2636 HPS2637 [cell.brc.riken.jp]

Meriem Haddad, Said Azzoug DOI :10.4103/2230-8210.119524 PMID :24251128 [ABSTRACT] [HTML Full text] [PDF] [Mobile Full text] [EPub] [Citations (2) ] [PubMed] [Sword Plugin for Repository] Beta Microprolactinoma with visual field defect: An unsuspected etiology [ijem.in]

From the molecular data presently available, three main epidemiologic results emerge: (a) Mutations in the gene encoding a gap junction protein, connexin 26, account for about half of the cases of prelingual isolated deafness in Caucasian populations; [ommbid.mhmedical.com]

Epidemiology Blue diaper syndrome affects males and females equally. The number of people affected in the general population is unknown. [9] Blue diaper syndrome is thought to be inherited as an autosomal recessive disorder. [checkrare.com]

According to epidemiological studies, hereditary nephritis occurs at a frequency of 17 per 100,000 children. Causes of Alport syndrome The genetic basis of the disease is a mutation in gene a-5 of the collagen chain of type IV. [iliveok.com]

Currently, there is no case registration system for most rare diseases, so there is very little documented information on the epidemiology of those diseases in China[ 7 ]. China still lacks an official definition and spectrum of rare diseases. [ojrd.biomedcentral.com]

Based on the epidemiological and clinical aspects, skeletal dysplasias can be further subdivided in order to simplify the diagnostic approach [ 26, 27 ]: Depending on the neonatal lethality: Usually fatal Achondrogenesis Thanatophoric dysplasia Short [intechopen.com]

Each form is introduced by a brief history of how the gene was discovered, followed by the description of its clinical features and the established or putative role of the encoded protein, as well as the current hypotheses concerning the associated pathophysiological [ommbid.mhmedical.com]

[…] has been described very rarely in patients with early-onset disease. [6] Leiomyomas, tumours of smooth muscle affecting the oesophagus and female genital tract, may occur in a rare overlap syndrome involving the adjacent COL4A5 and COL4A6 genes. [10] Pathophysiology [en.wikipedia.org]

To prevent:- Constipation Hemorhoids Malnutrition Fluid imbalance Bowel Care Program 1. Avoiding constipation. 2. Maintaining a good consistency in stool. [chambalravine.blogspot.com]

Can glomerulonephritis be prevented? Not until more is known about its causes. However, good hygiene, practicing “safe sex” and avoiding IV drugs are helpful in preventing viral infections such as HIV and hepatitis, which could lead to this illness. [kidney.org]

The increase in the degree of hematuria is noted during or after respiratory tract infections, physical exertion or after preventive vaccinations. [iliveok.com]

Calcium is restricted to help prevent kidney damage. [14] Examples of food with high levels of tryptophan include turkey and warm milk. [15] Antibiotics may be used to control or eliminate particular intestinal bacteria. [checkrare.com]

Mutations in any of these genes prevent the proper production or assembly of the specialised type IV collagen '345' network found in the glomerulus, which is an important structural component of basement membranes in the kidney, inner ear, and eye. [en.wikipedia.org]