Although some of the features seen in sss resemble digeorge syndrome, kenny caffey syndrome and familial hypoparathyroidism, lack of. Treatment often includes calcium and vitamin d supplements and addressing any medical issues as they occur. Calof om, singh ab, lee ml, kenny am, urban rj, tenover jl, bhasin s. If you have problems viewing pdf files, download the latest version of adobe.
The disease may be present at birth or occur shortly thereafter. Kenny caffey syndrome kcs is a rare syndrome reported almost exclusively in middle eastern populations. In a study by unger, et al, 5 patients with kenny caffey syndrome and 5 patients with gracile bone dysplasia were identified as heterozygous for 6 mutations in the. Although some of the features seen in sss resemble digeorge syndrome, kenny caffey syndrome and familial hypoparathyroidism, lack of association with normal intelligence, cardiac lesion, lymphopenia or skeletal abnormalities makes it a distinct entity. Caffey syndrome was first evaluated because of growth retardation and hypocalcemia. The first patient had elevated levels of serum follicle. If you have problems viewing pdf files, download the latest version of adobe reader for language access assistance, contact the ncats public information officer genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. Kenny caffey syndrome type 1 kcs1 omim 244460 is a rare syndrome characterized by growth retardation, uniformly small slender long bones with medullary stenosis, thickened cortex of the long bones, hypocalcemia possibly with tetany at an early age and normal intelligence. Pdf kennycaffey syndrome type 1 in an egyptian girl.
It is also known as caffey disease or caffey s disease. An external file that holds a picture, illustration, etc. Pdf characterization of optical coherence topography. The batten disease support and research association bdsra 515. The present report widens the spectrum of catch 22 microdeletion to accommodate kennycaffey syndrome. All cases show absence of macrocephaly and early psychomotor retardation.
Basal serum somatomedin c levels were normal for age, but did not increase during short. Gene should be increaseddecreased most of the time and the chemical does it. Kenny caffey syndrome is a rare hereditary skeletal syndrome characterized by dysmorphic features, severe growth retardation, classical radiological changes and hypocalcemia with. Selected genes are highlighted in orange, bookmarked genes are green chemical increases gene, chemical decreases gene, chemical increases and decreases gene simultaneosly, no arrows gene doesnt interact with the chemical. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for schaafyang syndrome. Forgotten diseases research foundation kennycaffey. Kennycaffey syndrome is a rare genetic condition causing skeletal abnormalities. Kenny caffey syndrome type 1 kcs1 omim 244460 is a rare syndrome characterized by growth retardation, uniformly small slender long bones with medullary stenosis, thickened cortex of the long. Clinical signs in hypothyroidismmyoedema and woltman sign. Caffey syndrome and microorchidism, american journal.
Kenny caffey syndrome is similar in phenotype to hrds, but also includes the presence of osteosclerosis and recurrent infections 18. Treatment of chronic hypoparathyroidism in adults jens bollerslev1,2, lars rejnmark3, claudio marcocci4, dolores m shoback5, antonio sitgesserra6, wim van biesen7 and olaf m dekkers8,9,10 1section of specialized endocrinology, clinic of medicine, oslo university hospital, oslo, norway, 2faculty of. See letter hypoparathyroidism, retarded growth and development, and dysmorphism or sanjadsakati syndrome. There was no evidence of a microdeletion of the y chromosome. In most cases, kcs is inherited as an autosomal dominant trait, but autosomal recessive due to mutation of the tubulinspecific chaperone e tbce gene has been also reported 46. Next generation sequencing panel for hypoparathyroidism. For language access assistance, contact the ncats public information officer. Kenny caffey syndrome is less severe, and is characterized by delayed closure of the fontanels, abnormal dentition, eye abnormalities and transient hypocalcemia. We report an 8monthold girl child with kenny caffey syndrome who had all the characteristic clinical. European society of endocrinology clinical guideline. Genetic causes of hypomagnesemia, a clinical overview. Linkage mapping of the kennycaffey syndrome and evidence.
The autosomal recessive kennycaffey syndrome locus maps to chromosome 1q42q43. Widefield retinal photography and fluorescein angiography showed characteristic findings seen in kenny. Yang syndrome sys is a genetic disorder caused by truncating pathogenic variants in the paternal allele of the maternally imprinted. Full text get a printable copy pdf file of the complete article 273k, or. There was a history of 6 affected sibs dying in infancy with hypocalcemic convulsions. Reported patients were almost exclusively from the arabian peninsula. Compensation disclosure government of newfoundland. Full text get a printable copy pdf file of the complete article 1.
An observational case report with clinical findings demonstrated by widefield retinal photographic and angiographic evaluation of a patient with kenny caffey syndrome. A clinical and genetic heterogeneity remains likely. If you have problems viewing pdf files, download the latest version of adobe reader. Kennycaffey syndrome type 2 kcs2 is an extremely rare hereditary skeletal disorder characterized by thickening of the long bones, thin marrow cavities in the bones medullary stenosis, and abnormalities affecting the head and eyes. We describe 2 unrelated bedouin girls who met the criteria for the diagnosis of kenny caffey syndrome.
Fishing regulations javascript is required to view this site. Kenny caffey syndrome is a rare syndrome characterized by dysmorphic features, growth retardation, uniformly small slender long bones with thickened cor tex and medullar y stenosis. This syndrome is caused by changes pathogenic variants in the fam111a gene and is inherited in an autosomal dominant pattern. Kennycaffey syndrome type 1 is the recessive form of kcs, and is also called hypoparathyroidismretardationdysmophic hrd syndrome or sanjadsakati syndrome. Hrd is an extremely rare disorder characterized by hypoparathyroidism that is present at birth congenital. Praderwilli syndrome pws is a complex neurobehavioral. Hypocalcemia with hypoparathyroidism presents at an early age. We are reporting two cases with kenny caffey syndrome hrd or sanjad sakati. The present cases confirm the presence of clinical variability and co firm autosomal recessive inheritance of kenny. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. To report a case of kenny caffey syndrome with peripapillary choroidal neovascularization. Individuals with the condition have a shortened stature and thickened long bones.
Characterization of optical coherence topography findings in kenny caffey syndrome. Truncating mutations in the maternally imprinted, paternally expressed gene magel2, which is located in the praderwilli critical region 15q11. Schaafyang syndrome genetic and rare diseases information. The syndrome has equal distribution for both sexes and has severe and often fatal consequences. Kenny caffey syndrome kcs is a rare syndrome initially described nearly 50 years ago reported almost exclusively in middle eastern populations and specifically in the gulf countries. Kennycaffey syndrome type 2 genetic and rare diseases. Kenny caffey syndrome kcs is a rare inherited disorder, with only 65 cases reported between 1966 and 2012, almost exclusively in middle eastern populations. Kennycaffey syndrome is a rare syndrome characterised by growth retardation, uniformly small slender long bones with medullary stenosis, thickened cortex of the long bones, hypocalcemia possibly with tetany at an early age, hyperphosphatemia, ocular abnormalities, and normal intelligence. Ben jelloundellagi s, chaffey p, hentati f, benhamida c, tome fms, collin. The girls had some unusual features microcephaly and psychomotor retardation that distinguish the kenny caffey syndrome profile in arab children from the classical kenny caffey syndrome phenotype characterized by macrocephaly and normal intelligence. Infantile cortical hyperostosis is a selflimited inflammatory disorder of infants that causes bone changes, soft tissue swelling and irritability. Short stature and hypoparathyroidism in a child with kenny. 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. It causes frequent episodes of low blood calcium hypocalcemia.
Poling, mikaela i dufresne, craig r mccormick, rodger j identification and recent approaches for evaluation and management of rehabilitation concerns for patients with freemanburian syndrome. Autosomal recessive kennycaffey syndrome consortume 2002 mutation of tbce causes. Kcs2 kennycaffey syndrome is an extremely rare skeletal disorder characterized by abnormalities in the long bones and the head. Kennycaffey syndrome type 2 is a genetic disorder that affects the skeleton, head, and eyes. Greenberg hm, goebel r, weichselbaum rr, greenberger js, chaffey jt, cassady jr. The phenotypic spectrum of schaafyang syndrome 18 new. Recently, heterozygous mutations of the fam111a gene, encoding a protein of unknown function and responsible of some autosomal dominant forms of kenny caffey syndrome see this term with hypothyroidism and slender and dense bone, have been identified in patients with osteocraniostenosis. Flow of healthy and sickle red blood cells in microcirculatory. Sanjadsakati and autosomal recessive kenny caffey syndromes are allelic.
Journal of pediatric ophthalmology and strabismus a 21yearold man with kenny caffey syndrome had been observed since 1993 for hyperopia. Hypocalcemia is also common kcs is autosomal dominant and caused by a mutation in fam111a. Kennycaffey syndrome nord national organization for. Chaffey college is a twoyear public institution that offers transfer, occupational, and special interest programs. Kennycaffey syndrome kcs is a rare osteosclerotic bone dysplasia characterized by hypocalcemia, short stature, ophthalmological features, and teeth anomalies. It is characterized by severe growth retardationshort stature, dysmorphic features, episodic hypocalcaemia, hypoparathyroidism, seizures, and medullary stenosis of long bones with thickened cortices.
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