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Kenny-Caffey Syndrome Type 1

Kenny-Caffey syndrome


Presentation

  • He presented with apnic attacks due to In the present study, 16 cases of KCS were diagnosed and registered at the Al-Jahra Regional Laision Community Genetic Programme serving a 250,000 inbred population mostly of Bedouin ancestry (more than 80% consanguineous[updoc.site]
  • Di-George syndrome may present with hypoparathyrodism, growth retardation and abnormal facial features.[ncbi.nlm.nih.gov]
Proportionate Short Stature
  • OMIM : 57 Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities, and transient hypocalcemia.[malacards.org]
  • short stature ; Recurrent bacterial infections ; Seizures ; Short foot ; Short palm ; Slender long bone ; Small hand ; Tetany ; Thin clavicles ; Thin ribs Associated Genes TBCE (Withdrawn symbols: HRD, KCS, KCS1, pac2 ) Mouse Orthologs Tbce (Withdrawn[mousephenotype.org]
  • Kenny–Caffey syndrome (KCS) is a rare dysmorphologic syndrome characterized by proportionate short stature, cortical thickening and medullary stenosis of tubular bones, delayed closure of anterior fontanelle, eye abnormalities, and hypoparathyroidism.[ingentaconnect.com]
  • He was diagnosed with KCS2 based on clinical findings of proportionate short stature, medullary stenosis revealed by radiography, a widely open anterior fontanelle (Figure 2 C, skull radiograph at nine years), and hypermetropia.[docslide.com.br]
Recurrent Bacterial Infection
  • It is similar to hypoparathyroidism-retardation-dysmorphism syndrome, with the additional findings of osteosclerosis and recurrent bacterial infections.[medical-dictionary.thefreedictionary.com]
  • bacterial infections ; Seizures ; Short foot ; Short palm ; Slender long bone ; Small hand ; Tetany ; Thin clavicles ; Thin ribs Associated Genes TBCE (Withdrawn symbols: HRD, KCS, KCS1, pac2 ) Mouse Orthologs Tbce (Withdrawn symbols: 2610206D02Rik,[mousephenotype.org]
  • A similar syndrome with the additional features of osteosclerosis and recurrent bacterial infections has been classified as autosomal recessive Kenny-Caffey syndrome (AR-KCS; OMIM 244460).[scienceopen.com]
  • bacterial infections Bacterial infections, recurrent Frequent bacterial infections Increased susceptibility to bacterial infections Recurrent major bacterial infections [ more ] 0002718 Seizures Seizure 0001250 Short palm 0004279 Slender long bone Long[rarediseases.info.nih.gov]
Intravenous Administration
  • The convulsion was controlled by intravenous administration of Ca gluconate and magnesium sulfate until he was 15 days old. At four years of age, he again had an episode of generalized convulsion because of hypocalcaemia.[docslide.com.br]
High Pitched Voice
  • pitched voice 0001620 Persistence of primary teeth Delayed loss of baby teeth Failure to lose baby teeth Retained baby teeth [ more ] 0006335 Percent of people who have these symptoms is not available through HPO Abnormality of the medullary cavity of[rarediseases.info.nih.gov]
Aspiration
  • A CT scan of the chest suggested changes compatible with chronic aspiration and no pulmonary fibrosis.[qims.amegroups.com]
Food Intolerance
  • He was repatriated but he gradually developed diarrhea and food intolerance with episodes of vomiting. This was associated with worsening respiratory function needing multiple hospital admissions for chest infections.[qims.amegroups.com]
Liver Dysfunction
  • She was found to have liver dysfunction with a serum aspartate aminotransferase (AST) level of 227 U/l (reference range: 2175) and serum alanine aminotransferase (ALT) level of 227 U/l (reference range: 1169).[docslide.com.br]
Small Hand
  • hands and feet, hypocalcaemia, hypoparathyroidism, radiologic evidence of cortical thickening of long bones with medullary stenosis, and absent diploic space in the skull; many die in infancy with hypocalcemic convulsions.[medical-dictionary.thefreedictionary.com]
  • All patients had severe intrauterine growth retardation, short stature, small hands and feet, blue sclera, deep-set eyes, microcephaly, persistent hypocalcaemia and hypoparathyroidism. Medullary stenosis was detected in 2 patients.[unboundmedicine.com]
  • […] rare, primary bone dysplasia characterized by prenatal and postnatal growth retardation, short stature, cortical thickening and medullary stenosis of the long bones, absent diploic space in the skull bones, hypocalcemia due to the hypoparathyroidism, small[malacards.org]
  • hands * Small feet * Hypoparathyroidism Causes - Kenny-Caffey syndrome- Type 1 Not supplied.[checkorphan.org]
  • hand Disproportionately small hands 0200055 Stenosis of the medullary cavity of the long bones 0100254 Thin clavicles Thin collarbone 0006645 Thin long bone diaphyses Thin shaft of long bone 0006470 Thin ribs Slender ribs 0000883 Percent of people who[rarediseases.info.nih.gov]
Pointed Chin
  • Figure 1 Note the microphthalmia and the distinctive facial features including sunken nasal bridge and pointed chin. Figure 2 MRI brain performed on a 1.5T Philips Ingenia scanner.[qims.amegroups.com]
Numbness of the Hand
  • Symptoms of hypoparathyroidism include weakness, muscle cramps; excessive nervousness; loss of memory; headaches, and abnormal sensations such as tingling, burning, and numbness of the hands.[rarediseases.org]
Meningism
  • He suffered repeated acute otitis media during infancy and was affected with empyema and bacterial meningitis at four years of age. Hypogammaglobulinemia was found, and he was administered gamma globulin intermittently.[docslide.com.br]

Workup

  • In the 3rd day of life, the patient underwent septic workup and was started on Ampicillin and Gentamycin as she developed Tachypnea with respiratory rate of 73 breath/min, respiratory distress, and desaturation to 90% on room air.[medcraveonline.com]
  • HP should be considered in the differential diagnosis of spondyloarthropathies and myopathies, and calcium may be included in the diagnostic workup of these patients. 1 Korkmaz C, Yasan S. Hypoparathyroidism simulating ankylosing spondylitis.[clinics.org.br]
  • HP should be considered in the differential diagnosis of spondyloarthropathies and myopathies, and calcium may be included in the diagnostic workup of these patients. REFERENCES 1. Korkmaz C, Yasan S.[scielo.br]
Delayed Bone Age
  • Proportionate growth retardation (prenatal and postnatal) associated with delayed bone age is the most common feature.[accessanesthesiology.mhmedical.com]
  • The following are signs and symptoms of KCS: Common clinical features of KCS2 Premature ossification of the fontanels (soft spots) Macrocephaly (large head) Medullary stenosis of the long bones (see photos below) Delayed bone age Short or very short stature[forgottendiseases.org]
  • Radiological Cortical thickening and medullary stenosis of long bones Absent diploic space in calvaria Delayed bone age Biochemical Hypocalcemia Hypocalcemia with tetany Parathyroid hormone Low High Normal 1 1 1 2 1 1 2 2 1 2 2 1 1 1 1 2 1 1 1 2 1 1 1[updoc.site]
  • bone age 13/20 65% 10/20 50% 23/40 57%Growth hormone deficiency 2/13 15%HypocalcemiaHypocalcemia 22/24 92% 25/29 86% 47/53 90%Symptomatic hypocalcemia 21/24 87% 24/29 83% 45/53 85%Congenital hypoparathyroidism 18/20 90% 16/22 73% 34/42 81%Facial featuresProminent[docslide.fr]
Hypercapnia
  • High baseline PaCO 2 , with metabolic compensation was deemed acceptable for him (permissive hypercapnia).[qims.amegroups.com]
Hyponatremia
  • Gastrointestinal involvement He was also noted to have hypoparathyroidism, hypothyroidism, hyponatremia with low cortisol response needing supplements of calcium, sodium and levothyroxine and hydrocortisone during periods of stress.[qims.amegroups.com]
Microcytic Anemia
  • anemia * Reduced number of neutrophils in blood * Neonatal liver disease * Small hands * Small feet * Hypoparathyroidism Causes - Kenny-Caffey syndrome- Type 1 Not supplied.[checkorphan.org]

Treatment

  • Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography.[books.google.de]
  • Treatment Treatment Options: Normalization of serum calcium and phosphorous levels would likely be beneficial but complete correction of all the findings is unlikely. Removal of congenital cataracts should be considered.[disorders.eyes.arizona.edu]
  • Kenny-Caffey Syndrome awareness wristbands can increase knowledge of the disorder so people can get treatment and checked to find out if they carry the gene responsible for this disorder.[amazingwristbands.com]
  • Hypocalcemia is also common. [2] KCS is autosomal dominant and caused by a mutation in FAM111A . [2] It affects males and females in equal proportion. [1] Treatment is based on symptoms. [1] References [ edit ] External links [ edit ][en.wikipedia.org]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]

Prognosis

  • Prognosis - Kenny-Caffey syndrome- Type 1 Not supplied. Treatment - Kenny-Caffey syndrome- Type 1 Not supplied. Resources - Kenny-Caffey syndrome- Type 1 Not supplied.[checkorphan.org]

Etiology

  • Case report: A 3-year old Algerian girl was referred to pediatric endocrinology unit for etiological research of hypocalcemia. Her birth weight was 1370 g.[abstracts.eurospe.org]
  • An increased understanding of the genetic etiology and improved genetic testing has provided an opportunity to expand the molecular diagnosis of hypoparathyroidism [ 2 ].[ijpeonline.biomedcentral.com]
  • Choong Abstract Background Hypoparathyroidism in children is a heterogeneous group with diverse genetic etiologies.[springermedizin.de]
  • (Etiology) Kenny-Caffey Syndrome Type 1 is caused by a mutation in the TBCE gene. This gene codes for tubulin-specific chaperone E protein. Also known as tubulin folding cofactor E, this protein is involved in the correct folding of beta-tubulins.[dovemed.com]

Epidemiology

  • Relevant External Links for TBCE Genetic Association Database (GAD) TBCE Human Genome Epidemiology (HuGE) Navigator TBCE Atlas of Genetics and Cytogenetics in Oncology and Haematology: TBCE No data available for Genatlas for TBCE Gene Mutation of TBCE[genecards.org]
  • "Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future research" . J. Bone Miner. Res . 26 (10): 2317–37. doi : 10.1002/jbmr.483 . PMC 3405491 . PMID 21812031 .[wikidoc.org]
Sex distribution
Age distribution

Pathophysiology

  • […] biochemistry of nutrition 180 Nutritional disorders and their management 200 Clinical biochemistry of the gastrointestinal tract 214 Assessment of hepatic function and investigation of jaundice 231 Acute and chronic liver disease 250 Glucose metabolism and the pathophysiology[books.google.de]
  • Brenner/Rector remains the go-to resource for practicing and training nephrologists and internists who wish to master basic science, pathophysiology, and clinical best practices.[books.google.de]
  • Pathophysiology Parathyroid, Vitamin D, and Mineral Homeostasis The effect of parathyroid hormone on mineral metabolism is as follows: [1] [2] Effect of parathyroid hormone on inorganic phosphate metabolism : Increases excretion of inorganic phosphate[wikidoc.org]
  • There have been only a few reports describing the pathophysiology of hypoparathyroidism in KCS. Absence of the parathyroid glands has been reported in some patients with KCS2 and KCS1 (25,26).[docslide.com.br]
  • Weinstein at the Molecular Pathophysiology Branch, NIDDK, NIH, Bldg. 10, Rm. 8D–17, Bethesda, MD 20892. References (45) 1. McCune DJ. .[nejm.org]

Prevention

  • Kenny-Caffey Syndrome Type 1 is a genetic condition, and therefore, there are no methods or guidelines available to prevent its occurrence.[dovemed.com]
  • Kenny-Caffey Syndrome is a genetic condition, and therefore, there are no methods or guidelines available to prevent its occurrence.[dovemed.com]
  • Prevention - Kenny-Caffey syndrome- Type 1 Not supplied. Diagnosis - Kenny-Caffey syndrome- Type 1 signs and symptoms of Kenny-Caffey syndrome, Type 1 may vary on an individual basis for each patient.[checkorphan.org]

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