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]

• Short Stature

  […] with short stature. [karger.com]

  In addition, for the treatment of short stature or growth failure in children with cuases of SHOX (short stature homeobox -containing gene ) deficiency whose epiphyses are not closed. [rarediseases.info.nih.gov]

  stature due to mesomelic shortening of the limbs and Madelung deformity (see this term), with hereditary nephritis.EpidemiologyIt was originally described in male and female members from four generations of one large kindred. [malacards.org]

  Mesomelic short stature MedGen UID: 340834 • Concept ID: C1855274 • Finding A type of disproportionate short stature characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg). [ncbi.nlm.nih.gov]

  Mutations or deletions of one of these genes lead to growth hormone deficiency, resulting in short stature. [intechopen.com]

• Weakness

  PROLONGED BED RIDDEN 1 Multiple fractures. 2 Spinal injury with neurological involvement. 3 Poor general condition. 4 Secondary complication like muscle weakness, deformity and muscle contractures etc. Back care AIMS- 1. Avoid pressure sores. 2. [chambalravine.blogspot.com]

  Disorganization syndrome Dissecting cellulitis of the scalp Dissociative amnesia Dissociative hysteria Dissociative fugue Dissociative identity disorder Distal arthrogryposis Moore Weaver type Distal myopathy Markesbery-Griggs type Distal myopathy with vocal cord weakness [wikidoc.org]

  Later, there is a violation of the partial functions of the kidneys, worsening of the general condition of the patient: intoxication, muscle weakness, arterial hypotension, often hearing impairment (especially in boys), sometimes impaired vision. [iliveok.com]

  […] life-sustaining treatment lateral spreading tumor laterally spreading tumor left sacrum transverse Laser scanning tomography LSU life support unit LSV lesser saphenous vein lateral sacral vein lleft subclavian vein LSW Licensed Social Worker left-side weakness [globalrph.com]

  Congenital, X-Linked 2 Cataract, Zonular Pulverulent 1 1 Catecholaminergic Polymorphic Ventricular Tachycardia, 1 7 Catecholaminergic Polymorphic Ventricular Tachycardia, 4 5 Catecholaminergic Polymorphic Ventricular Tachycardia, 5, with or without Muscle Weakness [preventiongenetics.com]

• Malnutrition

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

• Anorexia

  Megaloblastic Anemia of Chronic Disease Anemia, Pernicious Anemias, Sideroblastic Anencephaly Angelman Syndrome Angioedema, Hereditary Angioimmunoblastic T-Cell Lymphoma Aniridia Aniridia Cerebellar Ataxia Mental Deficiency Ankylosing Spondylitis Anodontia Anorexia [arrayit.com]

• Vomiting

  57,4 Do Not Use viagra if: Cockayne syndrome type 1,Cart,Cr,Hydrocephalus growth retardation skeletal anomalies,Hemoglobin SC disease Possible side effects of viagra Leg Swelling,Muscle spasms (157),Testicle lump (2),Thigh paresthesias (2),Hematemesis (Vomiting [hotelmeridiana.com]

  […] can undergo genetic testing to see if their child will get this syndrome, but most do not find out until they see the symptoms mentioned below. [6] Symptoms The symptoms of blue diaper syndrome could include irritability, constipation, poor appetite, vomiting [checkrare.com]

  […] form may include: Blood or protein in the urine (hematuria, proteinuria) High blood pressure Swelling of your ankles or face (edema) Frequent nighttime urination Very bubbly or foamy urine Symptoms of kidney failure include: Lack of appetite Nausea and vomiting [kidney.org]

  Syndromes Being male, ages 20 - 35 Vomiting Salad dressings (some) Bone pain Infection spreads throughout body, causing a blood infection (sepsis), which can be deadly The size, shape, or organization of mature cells becomes abnormal. [nhha.org]

  Symptoms usually appear in late childhood and include dysphagia, postprandial vomiting, substernal or epigastric pain, recurrent bronchitis, dyspnea, cough, and stridor. [en.wikipedia.org]

• Nausea

  […] chronic form may include: Blood or protein in the urine (hematuria, proteinuria) High blood pressure Swelling of your ankles or face (edema) Frequent nighttime urination Very bubbly or foamy urine Symptoms of kidney failure include: Lack of appetite Nausea [kidney.org]

• Eruptions

  Primary Dental Noneruption Posterior Openbite Malocclusion, Familial Primary Failure Of Eruption, Nonsyndromic Primary Retention Of Teeth Unerupted Second Primary Molar PFE 125350 Genetic Test Registry Familial Cold Autoinflammatory Syndrome 1 FCAS1 [ukgtn.nhs.uk]

  Epigenetic dyslipidemia Epstein syndrome Erythrocyte lactate transporter defect A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 0-9 Fabry disease Factor XII deficiency Factor XIII A subunit deficiency Factor XIII B subunit deficiency Failure of tooth eruption [moldiag.com]

  […] with macrocephaly and ventriculomegaly association PTH1R (= PTHR) Chondrodysplasia, Blomstrand type (BOCD) Eiken syndrome (Bone modeling defect of hands and feet) Enchondromatosis, multiple, Ollier type (ENCHOM) (Osteochondromatosis) Failure of tooth eruption [uniklinik-freiburg.de]

  Both EVC and Weyers acrodental dysostosis share mutations on the EVC2 gene (4p16); ectodermal dysplasia with enamel hypoplasia, hypodontia, and early eruption and exfoliation of teeth are seen on both disorders ( 247, 248 ). [basicmedicalkey.com]

• Osteoporosis

  1 (NF1) Neurofibromatosis-Noonan Syndrome (NF/NS) Noonan Syndrome (NS) Noonan-like Syndrome With Loose Anagen Hair Noonan-Like Syndrome With Or Without Juvenile Myelomonocytic Leukemia (CBL Mutation-Associated Syndrome) Osteogenesis imperfecta (OI) Osteoporosis [medical-genetics.de]

  Bone Mineral Density Quantitative Trait Locus Osteoporosis, Involutional Osteoporosis, Postmenopausal BMND 166710 Genetic Test Registry Osteoporosis-Pseudoglioma Syndrome Osteogenesis Imperfecta, Ocular Form OPPG OPS 259770 Genetic Test Registry Otopalatodigital [ukgtn.nhs.uk]

  Z 0-9 Nail-patella syndrome Nemaline myopathy 5 Neonatal diabetes mellitus Neonatal diabetes mellitus with congenital hypothyroidism Nephritic syndrome Nephrocalcinosis Nephrogenic diabetes insipidus Nephrolithiasis diarrhea syndrome Nephrolithiasis/osteoporosis [moldiag.com]

  postmenopausal COL1A2+del Osteoporosis, susceptibility to (OSTEOP) COL1A1+del Otospondylomegaepiphyseal dysplasia (OSMED) COL2A1+del, COL11A2 Ovarian cancer (OC) TP63 (= p63), CTNNB1 Ovarian cancer, endometrioid type MSH6+del Ovarian cancer, somatic [uniklinik-freiburg.de]

  2 Osteoporosis With Pseudoglioma 1 Oto-Palato-Digital Syndrome Type 1 4 Oto-Palato-Digital Syndrome, Type II 3 Otospondylomegaepiphyseal Dysplasia 4 Ovalocytosis 1 Ovarian Dysgenesis 1 4 Ovarian Dysgenesis 2 4 Ovarian Dysgenesis 3 1 Ovarian Dysgenesis [preventiongenetics.com]

• Short Extremities

  Bent Bone Dysplasia Bent bone dysplasias ( BBDs ) (group 18) are characterized by short limb dysplasia and bowing of the long bones of the lower extremity ( 299, 300 ). [basicmedicalkey.com]

• Severe Short Stature

  GH-IGF-1 axis and GH treatment in skeletal dysplasias Most patients with skeletal dysplasia show severe short stature. [intechopen.com]

• Vertigo

  Barakat Syndrome Bardet Biedl Syndrome Barrett Esophagus Barth Syndrome Bartonellosis Bartter's Syndrome Batten Disease Beals Syndrome Beckwith Wiedemann Syndrome Behcet's syndrome Bejel Bell's Palsy Benign Essential Tremor Benign Paroxysmal Positional Vertigo [arrayit.com]

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

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]

[…] to GH treatment. [karger.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]

[…] vol.20, pp.406-409, 2007 Yaris N., Çakir M., Kalyoncu M., Okten A., "Bleomycin induced hyperpigmentation with yolk sac tumor", INDIAN JOURNAL OF PEDIATRICS, vol.74, pp.505-506, 2007 Duzova A., Bakkaloglu A., Poyrazoglu H., Kalyoncu M., Delibas A., "Etiology [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]

Tubulointerstitial nephritis and uveitis (TINU) syndrome: a systematic review of its epidemiology, demographics and risk factors. Orphanet J Rare Dis. 2017;12(1):128. doi: 10.1186/s13023-017-0677-2. [revistarenal.org.ar]

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]

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]