Other traits with variable presentation in the syndrome are hypoplasic nails and neonatal liver disease. The presence of microorchidism has also been reported. [eurorad.org]

Anemia is present in 30% ... [accessanesthesiology.mhmedical.com]

Here, we present a 20-year-old male child from India presenting with childhood-onset, recurrent generalized seizures, which were poorly controlled with multiple antiepileptics. [ijcpjournal.org]

Di-George syndrome may present with hypoparathyrodism, growth retardation and abnormal facial features. [ncbi.nlm.nih.gov]

• Short Stature

  UniProtKB/Swiss-Prot : 75 Kenny-Caffey syndrome 2: A disorder characterized by impaired skeletal development with small and dense bones, short stature, and primary hypoparathyroidism with hypocalcemia. [malacards.org]

  The signs are present at birth and include short stature, normal intelligence, recurrent episode of hypocalcemia, and hypoparathyroidism. KCS2 is an autosomal dominant genetic disorder. [accessanesthesiology.mhmedical.com]

  Stature/Small for Gestational Age Disproportionate Short Stature Tags curated_removed TBCE in DDG2P Version 3.2 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders review BIALLELIC, autosomal or [panelapp.genomicsengland.co.uk]

  The primary outcome of Kenny-Caffey syndrome is short stature. Mental abilities are rarely affected. Mortality of 33% has been reported, because of psychomotor delay and intercurrent infections. [eurorad.org]

  He had distinctive facial features with microphthalmia and short stature ( th centile) ( Figure 1A,B ). He developed seizures at 2 months of age secondary to hypocalcaemia. [qims.amegroups.com]

• Disability

  Osteopetrosis congenita is present at birth and causes severe disability. Bone encroachment on marrow results in pancytopenia, hemolysis, anemia, and hepatosplenomegaly. Repeated hemorrhage or infection usually leads to death in early childhood. [eurorad.org]

  Kenny-Caffey Syndrome Type 1 (Hypoparathyroidism-Retardation-Dysmorphism [HRD] Syndrome, Sanjad-Sakati Syndrome): It is the recessive form of KCS and is an extremely rare disorder characterized by congenital hypoparathyroidism, growth retardation, intellectual disability [accessanesthesiology.mhmedical.com]

  241410 KENNY-CAFFEY SYNDROME TYPE 1 244460 Tags watchlist TBCE in Growth failure in early childhood Version 3.2 Latest signed off version: v3.0 (22 Mar 2023) review BIALLELIC, autosomal or pseudoautosomal Sources Expert Review Red TBCE in Intellectual disability [panelapp.genomicsengland.co.uk]

  Fragile X Syndrome August 28, 2018 by Peter Ciszewski Fragile X Syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. [checkrare.com]

• 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/Small for Gestational Age Disproportionate Short Stature Tags curated_removed TBCE in DDG2P Version 3.2 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders review BIALLELIC, autosomal [panelapp.genomicsengland.co.uk]

  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]

  He was diagnosed with KCS2 based on clinical finding of hypoparathyroidism, proportionate short stature, and medullary stenosis revealed by radiography. [bone-abstracts.org]

• Recurrent Bacterial Infection

  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]

  A similar syndrome with the additional features of osteosclerosis and recurrent bacterial infections is the autosomal recessive Kenny-Caffey syndrome. [flybase.org]

  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]

  It is similar to hypoparathyroidism-retardation-dysmorphism syndrome, with the additional findings of osteosclerosis and recurrent bacterial infections. [medical-dictionary.thefreedictionary.com]

  Inheritance may be autosomal dominant or autosomal recessive, with more severe growth retardation, small hands and feet, intellectual disability, microcephaly and recurrent bacterial infections being observed in the latter. [orpha.net]

• Sepsis

  The presence of patchy osteosclerosis in the long bones of some Saudi subjects with HRD and deaths secondary to sepsis in some Palestinian Bedouin individuals with HRD suggested variable expression of these phenotypic features in a pedigree-specific fashion [cags.org.ae]

  Investigation to exclude sepsis was done and showed, hypocalcemia 5.2mg%, phosphorus 8.2mg%, magnesium 1.4mg%, albumin 3.5g%, the rest of the electrolytes were normal. [lupinepublishers.com]

  In addition, most of them showed a predisposition to overwhelming sepsis. It seems that the KCS gene is a pleiotropic mutation with a wide spectrum of manifestations, involving various systems. [updoc.site]

  Similar to other reports we are also losing some patients to pneumonia or sepsis like an attack, but no immunological defect was found in previous reports. [jped.elsevier.es]

• Small Hand

  This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet. [ebi.ac.uk]

  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. [scienceopen.com]

  Delayed skeletal maturation ; Hypertelorism ; Hypocalcemia ; Hypomagnesemia ; Intrauterine growth retardation ; Long clavicles ; Proportionate short stature ; Recurrent bacterial infections ; Seizures ; Short foot ; Short palm ; Slender long bone ; Small [mousephenotype.org]

• Macrocephaly

  The children have characteristic facies with deep-set eyes, depressed nasal bridge with a beaked nose, long philtrum, thin upper lip, micrognathia, large floppy earlobes, macrocephaly, frontal bossing, delayed closure of anterior fontanel, wide metopic [eurorad.org]

  Macrocephaly with short stature is characteristic. Alopecia, delayed closure of the anterior fontanel, and apparent thickening of the cortex in long bones may be seen. Males have small testicles but there is no evidence regarding fertility. [disorders.eyes.arizona.edu]

  Harmonious dwarfism (size < P2 for age) with normal intelligence with: - hypoparathyroidism with hypocalcemia and sometimes tetany, or neonatal seizures - macrocephaly with delayed closure of the anterior fontanelle - dysmorphic face, sometimes micrognathia [sites.uclouvain.be]

  […] calcium seizures 0002199 Hypocalcemic tetany 0003472 Intrauterine growth retardation Prenatal growth deficiency Prenatal growth retardation [ more ] 0001511 Papilledema 0001085 Postnatal growth retardation Growth delay as children 0008897 Postnatal macrocephaly [rarediseases.info.nih.gov]

• Severe Short Stature

  The association of severe short stature, dysmorphic face, teeth abnormalities and bone dysplasia must guide us to suggest the diagnosis especially in the Middle Eastern and Arabic countries and confirm them genetically. [abstracts.eurospe.org]

  short stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 Small for gestational age Birth weight less than 10th percentile Low birth weight [ more ] 0001518 Thickened cortex of long bones 0000935 Transient hypophosphatemia [rarediseases.info.nih.gov]

  It is characterized by severe growth retardation—short stature, dysmorphic features, episodic hypocalcaemia, hypoparathyroidism, seizures, and medullary stenosis of long bones with thickened cortices (3,5). [qims.amegroups.com]

• Psychomotor Retardation

  Her psychomotor development was also noticeably retarded. At 6 years she had just started walking, was able to build a tower of 8 cubes, refer to self with a pronoun “I,” and able to help in dressing. [updoc.site]

  Hypoparathyroidism-retardation-dysmorphism syndrome (HRDS) [MIM:241410]: An autosomal recessive multisystem disorder characterized by hypoparathyroidism, intrauterine and postnatal growth retardation, psychomotor retardation, epilepsy, microcephaly, and [genecards.org]

  Sabry et al. (1999) suggested that these two cases denoted an Arab variant of KCS with characteristic microcephaly and psychomotor retardation. Palestine [See: Saudi Arabia > Parvari et al., 2002]. [cags.org.ae]

• Thin Lips

  There were no chromosomal abnormalities but all patients shared several dysmorphic features including deep set eyes, microcephaly, thin lips, beaked nose tip, external ear anomalies, micrognathia, and depressed nasal bridge. [scienceopen.com]

  lips Present Present Present Depressed nasal bridge Present Present Present Beaked nasal tip Yes Yes Yes Low set ears(fig 1) Present Present Normal ears Big rotated ears Yes No No Microtia No No Minimal Lips Thin lips with long philtrum Thin lips Thin [alliedacademies.org]

  The patient had dysmorphic features that are consistent with HRD syndrome (microcephaly, small deep-set eyes, beaked nose, thin lips with a long philtrum, micrognathia, and small hands and feet) [1]. [medcraveonline.com]

  KCS TYPE 1 • Up-Slanting Eyes • Extremely Thin Lips • Flat Nasal Bridge • Abnormally Small Head • Under – Developed Jaw Abnormal Teeth Development – MICRODONTIA, OLIGODONTIA, ETC. Abnormal and Under – developed Nails 11. [slideshare.net]

• Frontal Bossing

  The children have characteristic facies with deep-set eyes, depressed nasal bridge with a beaked nose, long philtrum, thin upper lip, micrognathia, large floppy earlobes, macrocephaly, frontal bossing, delayed closure of anterior fontanel, wide metopic [eurorad.org]

  Clinical features include cortical thickening and medullary stenosis of the tubular bones, delayed closure of fontanels, defective dentition, small eyes with hypermetropia, and frontal bossing with a triangular face. [malacards.org]

  They share clinical features such as short stature, thin long bones, primary hypoparathyroidism, hypocalcemia, microphthalmia, triangular face and frontal bossing. [ctgt.net]

• Delayed Closure of Fontanelles

  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]

  Clinical features include cortical thickening and medullary stenosis of the tubular bones, delayed closure of fontanels, defective dentition, small eyes with hypermetropia, and frontal bossing with a triangular face. [uniprot.org]

  Both conditions are characterized by gracile bones, characteristic facial features, hypomineralized skull with delayed closure of fontanelles and hypoparathyroidism. [pubfacts.com]

  Clinical features include cortical thickening and medullary stenosis of the tubular bones, delayed closure of fontanels, defective dentition, small eyes with hypermetropia, and frontal bossing with a triangular face. {ECO:0000269 PubMed:12389028}. [genecards.org]

• Seizure

  A follow-up visit at 1 month revealed a normal calcium level of 8.2 mg/dl, with no dystonia or tetany, and no further seizures. [ijcpjournal.org]

  Her birth weight was 1.5 kg and length was 35 cm.At the age of 12 days, she developed multifocal seizures and hypocalcemia was detected at that time. [journals.lww.com]

  He developed seizures at 2 months of age secondary to hypocalcaemia. He presented with multiple seizure types including status epilepticus, which were managed with antiepileptic medication and by correcting the hypocalcaemia. [qims.amegroups.com]

  The hypocalcemia is frequently associated with seizures or episodes of tetany. Thickening of long bone cortices and the calvaria of the skull are common findings. The cortical thickening is associated with medullary stenosis. [accessanesthesiology.mhmedical.com]

• Convulsions

  Imaging Findings A 17-year-old female patient presented with a history of congenital hypoparathyroidism and carpo-podalic convulsions. Since childhood she was affected by severe dwarfism with lack of puberal growth spurt. [eurorad.org]

  Sixty percent of patients have convulsions and tetany. Fatal outcome of these convulsions has been reported. [accessanesthesiology.mhmedical.com]

  Twelve infants (six boys, six girls) with severe hypocalcaemic tetany or convulsions were seen over a three year period. Nine patients were symptomatic in the newborn period. [scienceopen.com]

  […] retardation, craniofacial anomalies, small 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]

• Generalized Tonic-Clonic Seizure

  He had mental retardation and infantile onset generalized tonic clonic seizures (GTCS) and had been labeled as a patient having cerebral palsy. [ijcpjournal.org]

• Generalized Seizure

  He had mental retardation and infantile onset generalized tonic clonic seizures (GTCS) and had been labeled as a patient having cerebral palsy. [ijcpjournal.org]

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. REFERENCES 1. Korkmaz C, Yasan S. [scielo.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. 1 Korkmaz C, Yasan S. Hypoparathyroidism simulating ankylosing spondylitis. [clinics.org.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]

  Radiographic evaluation revealed short metacarpal bones and delayed bone age. Sequencing analysis showed a missense variant in FAM111A (R569H), unidentified in her parents. [typeset.io]

  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]

• Candida

  32251955 2020 26 AKR2A participates in the regulation of cotton fibre development by modulating biosynthesis of very-long-chain fatty acids. 62 Hu W...Shen G 31350932 2020 27 Study on the Function of the Inositol Polyphosphate Kinases Kcs1 and Vip1 of Candida [malacards.org]

Kenny treatment Kenny treatment Kenny treatment Kenny treatment Kenny Vs Spenny Kenny Wayne Shepherd Kenny's method Kenny's treatment Kenny, Elizabeth Kenny, Enda Kenny, Frederic M Kenny, Frederic M. [medical-dictionary.thefreedictionary.com]

Long-term treatment with calcium and vitamin D supplements is recommended. Prognosis may be variable. The primary outcome of Kenny-Caffey syndrome is short stature. Mental abilities are rarely affected. [eurorad.org]

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]

Treatment often includes calcium and vitamin D supplements and addressing any medical issues as they occur. [malacards.org]

Prognosis may be variable. The primary outcome of Kenny-Caffey syndrome is short stature. Mental abilities are rarely affected. Mortality of 33% has been reported, because of psychomotor delay and intercurrent infections. [eurorad.org]

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]

PROGNOSIS • LIFELONG MONITORING ANG MANAGEMENT. • APPROXIMATELY 33% OF THE CHILDREN BORN WITH KCS, DIE BEFORE OR DURING EARLY INFANCY FROM THE COMPLICATIONS THAT DEVELOP • COMPLICATIONS, SUCH AS MULTIPLE EPISODES OF SEIZURES AND SKELETAL DEFORMITIES, [slideshare.net]

Background: Congenital hypoparathyroidism in children is a condition with diverse genetic etiologies. [bone-abstracts.org]

From the journal Journal of Pediatric Endocrinology and Metabolism Volume 2 Issue 4 Submit manuscript Journal and Issue This issue All issues Articles in the same Issue TABLE OF CONTENTS Etiology of Delayed Puberty in 146 Children Evaluated Over a 10 [degruyter.com]

However, because FAM111A function is poorly characterized, its roles in restricting viral replication and the etiology of KCS2 and OCS remain undefined. Read More [pubfacts.com]

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]

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]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.it]

[edit] Because there have only been 60 reported cases of Kenny-Caffey Syndrome in medical literature, there are not enough cases to make the generalizations required to develop an epidemiological understanding of this disease. [en.wikipedia.org]

Pathophysiology The most striking biochemical finding is hypocalcemia, which is related to hypoparathyroidism in 46% of cases. The hypocalcemia is frequently associated with seizures or episodes of tetany. [accessanesthesiology.mhmedical.com]

Each chapter consists of a brief discussion of the relevant pathophysiology and moves into diagnosis and treatment, making liberal use of tables and algorithms. [books.google.de]

"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. [wikidoc.org]

In conclusion, early recognition of children KCS1 will lead to proper treatment of patients and prevent associated co morbidities. REFERENCES 1. [journals.lww.com]

PREVENTION • NO METHODS OR GUIDELINES AVAILABLE TO PREVENT ITS OCCURRENCE. • GENETIC TESTING OF THE EXPECTING PARENTS AND PRENATAL DIAGNOSIS. 18. [slideshare.net]

Kenny-Caffey Syndrome is a genetic condition, and therefore, there are no methods or guidelines available to prevent its occurrence. [dovemed.com]