We present a case of 11/2- year-old male child with De Barsy syndrome associated with incomplete cleft palate. [go.gale.com]

No significant family history was present and he has two female siblings with no congenital anomalies. [jclpca.org]

The condition is expressed in variable presentations involving complicated patterns of ocular, facial, skeletal, dermatologic and neurological abnormalities. [checkorphan.org]

We present a case that demonstrates the typical clinical and histological features of de Barsy syndrome. [ncbi.nlm.nih.gov]

SHORT CASE REPORTS De Barsy syndrome type B presenting with cardiac and genitourinary abnormalities Dutta, Atanu K.a; Ekbote, Alka V.a; Thomas, Niranjanb; Omprakash, Sabithaa; Danda, Sumitaa Departments of aClinical Genetics bNeonatology, Christian Medical [journals.lww.com]

• Short Stature

  Overview De Barsy syndrome is a rare, autosomal recessive genetic disorder, the main characteristics of which are a prematurely aged-looking face (progeria), cloudy corneas, short stature, and mental retardation. [checkorphan.org]

  stature syndrome|Ear, patella, short stature syndrome (disorder)|Early onset sarcoidosis|Facial dysmorphism, intellectual deficit, short stature and hearing loss|Facio-genito-popliteal syndrome|Faciooculoacousticorenal syndrome|Familial granulomatosis [averbis.com]

  It is usually progressive, manifesting side effects that can include clouded corneas, cataracts, short stature, dystonia, or progeria (premature aging). [wikinow.co]

  stature, frontal bossing in the young child, large prominent ears with… 26 Citations References SHOWING 1-10 OF 10 REFERENCES [DeBarsy-Moens-Dierckx-syndrome (author's transl)]. [semanticscholar.org]

  stature, and mental retardation. [hekim.org]

• Developmental Delay

  Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual development, Delayed milestones, Psychomotor development deficiency, Developmental [rarediseases.oscar.ncsu.edu]

  delay, and ophthalmologic abnormalities. [uniprot.org]

  delay and intellectual disability [1-4]. [semanticscholar.org]

  delay, and corneal clouding and cataract. [findexpertmd.com]

  As the child has developmental delay and mental retardation, normal speech cannot be expected. The same has been explained to the family. [jclpca.org]

• Disability

  disability syndrome; Progeroid syndrome of De Barsy; Progeroid syndrome, De Barsy typeCorneal clouding, cutis laxa and intellectual disability; Cutis laxa growth deficiency syndrome; Cutis laxa-corneal clouding-intellectual disability syndrome; Progeroid [rarediseases.info.nih.gov]

  About Library Blog FAQ Testimonials Rare Charities Press Contact Search the Library Other Names: Corneal clouding, cutis laxa and intellectual disability, Cutis laxa growth deficiency syndrome, Cutis laxa-corneal clouding-intellectual disability syndrome [rareguru.com]

  Babu De Barsy syndrome, a rare genetic disorder, is characterized by progeroid features, cutis laxa, ocular abnormalities, growth retardation, and intellectual disability. [go.gale.com]

  Keywords: Cleft palate, corneal clouding, cutis laxa, De Barsy syndrome, intellectual disability How to cite this article: Mohapatra DP, Konda SR, Babu P. Incomplete cleft palate in a child with De Barsy syndrome. [jclpca.org]

  […] recessive disease characterized by distinctive, dysmorphic facial features suggesting in the neonatal period progerialike appearance, cutis laxa, ocular defects and orthopedic abnormalities as well as athetoid movements, developmental delay and intellectual disability [semanticscholar.org]

• Dentist

  Establishments operating as clinics of dentists are included in this industry. [webhealthnetwork.com]

  The book will appeal to clinical geneticists, pediatricians, neurologists, head and neck surgeons, otolarynologists, and dentists. The 4th edition, which published in 2001, has sold 2,600 copies. [books.google.es]

• Trisomy 21

  21 Syndrome; Chromosome 21, Mosaic 21 Syndrome; Chromosome 21, Translocation 21 Syndrome; Trisomy G Syndrome) Dravet Syndrome (aka: severe myoclonic epilepsy of infancy; SMEI) Dubowitz Syndrome (aka: Intrauterine Dwarfism) Duchenne Muscular Dystrophy [docplayer.net]

• Failure to Thrive

  Patients affected by the disorder suffer from global developmental delay and a failure to thrive. De Barsy syndrome has been reported in fewer than 50 cases worldwide. It has been found to affect males and females equally. [cags.org.ae]

  Other features include joint hyperlaxity, bone fragility, muscle hypotonia, hip dislocation, sunken eyes, microcorneas, and failure to thrive. [accessanesthesiology.mhmedical.com]

  The developmental milestones were delayed, with the absence of neck holding, failure to thrive, and intellectual impairment. The child had undergone bilateral penetrating keratoplasty for corneal opacities at the age of 1 year 3 months. [jclpca.org]

  […] to thrive Frontal bossing; prominent forehead Hyperreflexia; overreaction of central nervous system to stimuli Hypertelorism; increased space between two organs Hypotelorism; decreased space between two organs Inguinal hernia Intellectual disability [dovemed.com]

• Diarrhea

  […] and Cancer: Home Treatment Diarrhea, Age 11 and Younger Diarrhea, Age 12 and Older Diarrhea, Traveler's diarrhea-associated (D+) hemolytic uremic syndrome Diastolic Heart Failure Diastrophic Dwarfism Diastrophic Dysplasia Diastrophic Nanism Syndrome [informationtherapy.in]

  […] and Cancer: Home Treatment Diarrhea, Age 11 and Younger Diarrhea, Age 12 and Older Diarrhea, Traveler's Diastrophic Dwarfism Diastrophic Dysplasia Diastrophic Nanism Syndrome DIC (Disseminated Intravascular Coagulation) Dicarboxylic Aminoaciduria Dicarboxylicaciduria [dentisty.org]

  Desanto-Shinawi Syndrome DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES Devriendt syndrome Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification Dianzani Autoimmune Lymphoproliferative Syndrome Diarrhea [rgd.mcw.edu]

• Macrotia

  Hypotelorism; decreased space between two organs Inguinal hernia Intellectual disability Intrauterine growth retardation Joint hypermobility; abnormal range of joint movement Large fontanelles; large soft spots/gaps between the cranial bones Low-set ears Macrotia [dovemed.com]

  […] without chorioretinopathy, lymphedema, or mental retardation Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate Microcephaly, Epilepsy, and Diabetes Syndrome Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation Microcephaly, Macrotia [rgd.mcw.edu]

• Corneal Opacity

  In addition, there are large fontanels that close late, corneal opacity and cataracts. diagnosis The diagnosis can be made through a skin biopsy - but not in all affected persons. [de.zxc.wiki]

  The child had undergone bilateral penetrating keratoplasty for corneal opacities at the age of 1 year 3 months. A diagnosis of incomplete cleft palate with De Barsy syndrome was made. [jclpca.org]

  : Proc. 2011; 29-30 (): 118-121 Gulf Medical University: Proceedings Journal Country: United Arab Emirates P-ISSN: 2306-6865 Type of Publication: Case Reports Category: Humans, Male, Type of Research: Clinical Keywords: Corneal Opacity / Diagnosis Broad [vlibrary.emro.who.int]

  Corneal opacity Reduction of corneal clarity, Corneal opacities, Corneal clouding [more] A reduction of corneal clarity. [rarediseases.oscar.ncsu.edu]

• Arthritis

  Home page: http://www.genome.gov/10000409 March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains NY 10605 Phone #: 914-428-7100 800 #: 888-663-4637 e-mail: [email protected] Home page: http://www.marchofdimes.com NIH/National Arthritis [hekim.org]

  dermatitis and uveitis|Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)|Familial juvenile systemic granulomatosis|Feingold syndrome|Fetal akinesia-hypokinesia sequence|Foetal akinesia-hypokinesia sequence|Golabi-Ito-Hall [averbis.com]

  Resources March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 Tel: (914)997-4488 Fax: (914)997-4763 Tel: (888)663-4637 Email: [email protected] Internet: http://www.marchofdimes.com NIH/NationaI Institute of Arthritis [healthmedicinet.com]

  […] rarediseases.info.nih.gov/GARD/ March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 Phone #: 914-997-4488 800 #: 888-663-4637 e-mail: [email protected] Home page: http://www.marchofdimes.com NIH/National Institute of Arthritis [archive.li]

• Hip Dislocation

  Symptoms - Progeroid syndrome De Barsy type * Loose skin * Cloudy cornea * Delayed psychomotor development * Prematurely aged facial appearance * Hip dislocation * Thumb dislocation * Big toe dislocation * Increased reflex response * Inelastic skin * [checkorphan.org]

  […] arthrodesis and soft tissue management; However reported complications due to hypereslasticity, which, because of this, required a prolonged time of post-operative immobilization in the management of hip dislocation. [medcraveonline.com]

  Other features include joint hyperlaxity, bone fragility, muscle hypotonia, hip dislocation, sunken eyes, microcorneas, and failure to thrive. [accessanesthesiology.mhmedical.com]

• Joint Dislocation

  Acronym ARCL3A Synonyms Cutis laxa autosomal recessive type IIIA Cutis laxa corneal clouding and mental retardation De Barsy syndrome De Barsy syndrome A Developmental delay-choreoathetosis-joint dislocation-lax skin Mental retardation joint hypermobility [uniprot.org]

  The newborn, weighing 2721 g and measuring 44 cm long, was noted to have a variety of dysmorphic features: short stature with a small chest and pectus excavatum; skeletal dysplasia with short legs; multiple joint dislocations, especially involving the [jamanetwork.com]

  Contractures, and Facial Dysmorphism Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations Mental Retardation, Skeletal Dysplasia, and Abducens Palsy Mental Retardation, X-Linked + Merlob Grunebaum Reisner Syndrome MERRF Syndrome [rgd.mcw.edu]

• Muscle Hypotonia

  Other features include joint hyperlaxity, bone fragility, muscle hypotonia, hip dislocation, sunken eyes, microcorneas, and failure to thrive. [accessanesthesiology.mhmedical.com]

  However, features such as muscle hypotonia, cataracts, mental retardation, and neurologic deficits are not readily explained by abnormalities of the elastic system. [jamanetwork.com]

• Severe Short Stature

  […] sight Narrow mouth Narrow nasal ridge Pectus excavatum; condition of sunken breastbone Prominent superficial blood vessels Scoliosis; abnormally-curved spine Seizures Severe short stature Sparse hair Strabismus or crossed eyes Talipes equinovarus or [dovemed.com]

• Cutis Laxa

  Barsy syndrome include corneal clouding-cutis laxa-mental retardation, cutis laxa-growth deficiency syndrome, De Barsy–Moens–Diercks syndrome, and progeroid syndrome of De Barsy.[2] References[edit] ^ INSERM US14. [en.wikipedia.org]

  cutis laxa mental retardation, Progeroid syndrome of De Barsy, De Barsy Moens Diercks syndrome [checkorphan.org]

  cutis laxa (autosomal recessive cutis laxa kind 3A). [valleyfamilymedicineurgentcarecenter.com]

  […] related cutis laxa (autosomal recessive cutis laxa type 3A). [metrohealth.net]

  […] syndrome include corneal clouding-cutis laxa-mental retardation, cutis laxa-growth deficiency syndrome, De Barsy–Moens–Diercks syndrome, and progeroid syndrome of De Barsy.[2] References ↑ RESERVED, INSERM US14-- ALL RIGHTS. [handwiki.org]

• Skin Disease

  Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains NY 10605 Phone #: 914-428-7100 800 #: 888-663-4637 e-mail: [email protected] Home page: http://www.marchofdimes.com NIH/National Arthritis and Musculoskeletal and Skin Diseases Information [hekim.org]

  Category: Connective tissue disease, Eye disease, Genetic disease (inborn), Mental disorder, Nervous system disease, Signs and symptoms, Skin disease DietRx Associations for De Barsy syndrome [cosylab.iiitd.edu.in]

  Skin disease Nervous system diseases Diseases of the osteoarticular system Complex syndrome Keyword (es) Anestesia Hombre Hipertermia De Barsy síndrome Enfermedad hereditaria Piel patología Sistema nervioso patología Sistema osteoarticular patología [pascal-francis.inist.fr]

  Diseases Information Clearinghouse One AMS Circle Bethesda, MD 20892-3675 USA Tel: (301)495-4484 Fax: (301)718-6366 Tel: (877)226-4267 TDD: (301)565-2966 Email: [email protected] Internet: http://www.niams.nih.gov/ Genetic and Rare Diseases (GARD [healthmedicinet.com]

• Sparse Hair

  hair, joint laxity, osteopenia, and inguinal hernias. [ai-online.info]

  Dysmorphic facial features also included large, low-set ears, a depressed nasal bridge with a pinched nose, a prominent forehead, thin, translucent and wrinkled skin, micrognathia, and sparse hair. [cags.org.ae]

  hair Strabismus or crossed eyes Talipes equinovarus or club foot Thin skin Umbilical hernia Wide cranial sutures Wormian bones; presence of additional bones within the cranium Based on the frequency of symptoms observed, occasional symptoms in 5%-29% [dovemed.com]

  (a) Progeroid look, asymmetrical head, and thin sparse scalp hair, small nose with long philtrum, large and low set ear, small mouth, and hypertrichosis over the forehead. [ncbi.nlm.nih.gov]

• Large Fontanel

  fontanelles, facial dysmorphism, cataracts, corneal clouding, thin/wrinkled skin, easy bruising, sparse hair, joint laxity, osteopenia, and inguinal hernias. [ai-online.info]

  In addition, there are large fontanels that close late, corneal opacity and cataracts. diagnosis The diagnosis can be made through a skin biopsy - but not in all affected persons. [de.zxc.wiki]

  She was found to have a progeroid appearance, a large anterior fontanel, widely separated sutures and dilated skull veins. [cags.org.ae]

  fontanelles; large soft spots/gaps between the cranial bones Low-set ears Macrotia; abnormally-large ears Muscular hypotonia; low muscle tone Myopia or short sight Narrow mouth Narrow nasal ridge Pectus excavatum; condition of sunken breastbone Prominent [dovemed.com]

• Narrow Face

  Symptoms INHERITANCE: Autosomal recessive HEAD AND NECK: [Face]; Narrow face; [Ears]; Hearing loss; [Eyes]; Small eyes; Cataracts GENITOURINARY: [External genitalia, male]; Inguinal hernia SKELETAL: Joint laxity (elbow, wrist, fingers); [Pelvis]; Hip [findzebra.com]

• Aged Face

  Professor Garg and his team now believe Lizzie may have a form of Neonatal Progeroid Syndrome (NPS) which causes accelerated ageing, fat loss from the face and body, and tissue degeneration. [telegraph.co.uk]

• Dystonia

  It is usually progressive, manifesting side effects that can include clouded corneas, cataracts, short stature, dystonia, or progeria (premature aging). [wikinow.co]

  Symptoms include cutis laxa (loose hanging skin) as well as other eye, musculoskeletal, and neurological abnormalities.[2] It is usually progressive, manifesting side effects that can include clouded corneas, cataracts, short stature, dystonia, or progeria [en.wikipedia.org]

  Symptoms include cutis laxa (loose hanging skin) as well as other eye, musculoskeletal, and neurological abnormalities. [1] It is usually progressive, manifesting side effects that can include clouded corneas, cataracts, short stature, dystonia, or progeria [wikivividly.com]

• Hyperreflexia

  […] syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia [findexpertmd.com]

  Hyperreflexia Increased deep tendon reflexes, Increased reflexes Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. [rarediseases.oscar.ncsu.edu]

  Definition A syndrome characterized by facial dysmorphism with a progeroid appearance, large and late-closing fontanel, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit, developmental [uniprot.org]

  Findings from examination disclosed a variety of dysmorphic features, including cutis laxa, progeroid aspect, short stature, multiple hyperextensible subluxated joints, muscular hypotonia, and hyperreflexia. [jamanetwork.com]

  […] arcus; eye abnormality Cryptorchidism; absence of testis/testes within the scrotal sac Cutis laxa; condition characterized by loose and inelastic skin Delayed skeletal maturation, or delayed bone age Failure to thrive Frontal bossing; prominent forehead Hyperreflexia [dovemed.com]

• Involuntary Movements

  The main characteristics are degeneration of the elastic tissue in the skin (cutis laxa), involuntary movement of the arms and legs (athetosis), cloudy cornea of the eye, large prominent ears, generalized hypotonia, hyperlaxity of small joints, frontal [accessanesthesiology.mhmedical.com]

• Delayed Bone Age

  […] skeletal maturation, or delayed bone age Failure to thrive Frontal bossing; prominent forehead Hyperreflexia; overreaction of central nervous system to stimuli Hypertelorism; increased space between two organs Hypotelorism; decreased space between two [dovemed.com]

The aim of this paper is to describe a possible rehabilitative protocol, after an orthopedic surgical treatment, in a child with De Barsy Syndrome. [clinicaterapeutica.it]

There are no standardized treatment protocols; treatment generally focuses on the signs and symptoms present in each individual. [rareguru.com]

Treatment - Progeroid syndrome De Barsy type Not supplied. [checkorphan.org]

This discovery will certainly ameliorate the diagnostics, treatment, and genetic counselling processes for patients. [asianscientist.com]

Standard Therapies Treatment The treatment of de Barsy syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

Prognosis - Progeroid syndrome De Barsy type Not supplied. Treatment - Progeroid syndrome De Barsy type Not supplied. [checkorphan.org]

Parents should talk to their children’s physician and medical team about their specific case, associated symptoms and overall prognosis. An extremely wide and varied group of symptoms have been reported in individuals with de Barsy syndrome. [rarediseases.org]

While an iatrogenic etiology is a possible explanation, the repeated occurrence of hyperthermia in the same patient suggests an unknown etiology or possible underlying metabolic disorder similar to that of osteogenesis imperfecta and Costello syndrome [kundoc.com]

The etiology of this syndrome is unknown but it is probably heterogeneous. Recently a autosomal recessive glycosylation disorder (ATP6V0A2-CDG) has been associated with De Barsy syndrome. [dergipark.gov.tr]

(Etiology) Some cases of De Barsy Syndrome have been linked to mutations in either the PYCR1 or ALDH18A1 genes De Barsy Syndrome is inherited in an autosomal recessive manner (Source: De Barsy Syndrome; Genetic and Rare Diseases Information Center (GARD [dovemed.com]

In cutis laxa patients mutations have been demonstrated in elastin or fibulin genes, but in the majority of patients the underlying genetic etiology remains unknown. [typeset.io]

Epidemiology The frequency is given as less than 1: 1,000,000, inheritance is autosomal - recessive. [de.zxc.wiki]

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.es]

( addiandcassi.com ) sometimes acute coronary syndrome a classification encompassing clinical presentations ranging from unstable angina through non, sometimes also including Q wave infarction. ( thefreedictionary.com ) study Fraser syndrome : Epidemiological [lookformedical.com]

Epidemiology in Latin America is unknown because of its underdiagnosis and when confused with other connective tissue pathologies (Hutchinson-Gilford syndrome, gerodermic osteodiplasia, even Ehlers-Danlos), the life expectancy of these patients varies [medcraveonline.com]

DURING PREGNANCY FOR FETAL ALLOIMMUNE (ZW(A)) THROMBOCYTOPENIC PURPURA Thrombosis and haemostasis GEMBRUCH U; REDEL DA; BALD R; HANSMANN M LONGITUDINAL-STUDY IN 18 CASES OF FETAL SUPRAVENTRICULAR TACHYCARDIA - DOPPLER ECHOCARDIOGRAPHIC FINDINGS AND PATHOPHYSIOLOGIC [serials.unibo.it]

Prevention - Progeroid syndrome De Barsy type Not supplied. Diagnosis - Progeroid syndrome De Barsy type signs and symptoms of De Barsy Syndrome may vary on an individual basis for each patient. [checkorphan.org]

How can De Barsy Syndrome be Prevented? Currently, De Barsy Syndrome is not preventable, since it may be a genetic disorder. [dovemed.com]

[…] high blood sugar Diabetes in children: Preventing low blood sugar Diabetes in Pregnancy (Gestational Diabetes) Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness Diabetes Mellitus, Addison's Disease, Myxedema Diabetes, Type 1 Diabetes, [dentisty.org]

Athetosis Involuntary writhing movements, Athetoid movements A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. [rarediseases.oscar.ncsu.edu]