Symptoma

Cranioectodermal Dysplasia 2

CED2

Acronym CED2 Synonyms Sensenbrenner syndrome 2 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

The goal of this review is to present some of the more prominent and distinctive syndromes to increase their recognition by dermatologists and to stimulate further investigation. [jamanetwork.com]

Leading experts from Latin America, Africa, Near and Middle East, Indian Subcontinent, Far East, Oceania and Australia present their expert insights into specific conditions, as well as progress and challenges in the development of the specialty. [books.google.ro]

Presentation History A family history of consanguinity, early death, or renal disease is present in 67% of patients with nephronophthisis (NPH). [emedicine.medscape.com]

  • Splenomegaly

    Plagiocephaly ; Polyhydramnios ; Polysplenia ; Portal fibrosis ; Postaxial hand polydactyly ; Renal cyst ; Renal insufficiency ; Retrognathia ; Rhizomelia ; Short neck ; Short ribs ; Smooth philtrum ; Sparse eyebrow ; Sparse eyelashes ; Sparse hair ; Splenomegaly [mousephenotype.org]

  • Short Stature

    Clinical features include short stature, dolichocephaly, craniosynostosis, narrow thorax with pectus excavatum, short limbs, brachydactyly, joint laxity, narrow palpebral fissures, telecanthus with hypertelorism, low-set simple ears, everted lower lip [uniprot.org]

    […] acrofacial dysostosis – dental anomalies, nail dystrophy, postaxial polydactyly, mild short stature May have normal life span FGFR1 Osteoglophonic dysplasia AD Craniosynostosis, rhizomelia Most have normal life span FGFR2 Bent bone dysplasia; Saethre-Chotzen [arupconsult.com]

    Other non-lethal skeletal dysplasias result in disproportionate short stature. Achondroplasia is the most common cause of disproportionate short stature worldwide. [blueprintgenetics.com]

    Abnormalities in the long bones of the arms and legs (metaphyseal dysplasia) lead to short limbs and short stature. In addition, affected individuals often have short fingers ( brachydactyly ). [ghr.nlm.nih.gov]

  • Pediatric Disorder

    Leigh, Ciliopathies: The Central Role of Cilia in a Spectrum of Pediatric Disorders, The Journal of Pediatrics, 160, 3, (366), (2012). Carsten Bergmann, Educational paper, European Journal of Pediatrics, 171, 9, (1285), (2012). Carlos A. [doi.org]

  • Delayed Gastric Emptying

    gastric emptying, and act as a satietHP:0001156Brachydactyly syndromeMP:0020157abnormal behavioral response to alcoholany anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behaviorHP:0008388Abnormality [pediascape.org]

  • Sparse Hair

    hair, skin laxity, abnormal nails), joint laxity, growth retardation, and characteristic facial features (frontal bossing, low-set simple ears, high forehead, telecanthus/epicanthus, full cheeks, everted lower lip). [ncbi.nlm.nih.gov]

    hair ; Splenomegaly ; Syndactyly ; Telecanthus ; Upslanted palpebral fissure ; Wide nasal bridge ; Widely spaced teeth Associated Genes WDR35 (Withdrawn symbols: IFT121, IFTA1, KIAA1336, MGC33196 ) Mouse Orthologs Wdr35 (Withdrawn symbols: 4930459M12Rik [mousephenotype.org]

    hair, and abnormal finger and toe nails. [orpha.net]

    Clinical features include craniosynostosis, narrow rib cage, short limbs, brachydactyly, hypoplastic and widely spaced teeth, sparse hair, skin laxity and abnormal nails. [malacards.org]

    In some types, teeth may be missing and nails may be defective, while in another type there may be missing teeth, inability to sweat, and sparse hair. Still another may have hearing loss and defects of the enamel of the teeth. [nfed.org]

  • Sparse Eyebrows

    eyebrow ; Sparse eyelashes ; Sparse hair ; Splenomegaly ; Syndactyly ; Telecanthus ; Upslanted palpebral fissure ; Wide nasal bridge ; Widely spaced teeth Associated Genes WDR35 (Withdrawn symbols: IFT121, IFTA1, KIAA1336, MGC33196 ) Mouse Orthologs [mousephenotype.org]

  • Sparse Eyelashes

    eyelashes ; Sparse hair ; Splenomegaly ; Syndactyly ; Telecanthus ; Upslanted palpebral fissure ; Wide nasal bridge ; Widely spaced teeth Associated Genes WDR35 (Withdrawn symbols: IFT121, IFTA1, KIAA1336, MGC33196 ) Mouse Orthologs Wdr35 (Withdrawn [mousephenotype.org]

  • Withdrawn

    […] symbols: IFT121, IFTA1, KIAA1336, MGC33196 ) Mouse Orthologs Wdr35 (Withdrawn symbols: 4930459M12Rik ) Source OMIM:613610 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI (gene symbols, gene orthology) HPO [mousephenotype.org]

  • Short Neck

    neck ; Short ribs ; Smooth philtrum ; Sparse eyebrow ; Sparse eyelashes ; Sparse hair ; Splenomegaly ; Syndactyly ; Telecanthus ; Upslanted palpebral fissure ; Wide nasal bridge ; Widely spaced teeth Associated Genes WDR35 (Withdrawn symbols: IFT121, [mousephenotype.org]

  • Short Neck

    neck ; Short ribs ; Smooth philtrum ; Sparse eyebrow ; Sparse eyelashes ; Sparse hair ; Splenomegaly ; Syndactyly ; Telecanthus ; Upslanted palpebral fissure ; Wide nasal bridge ; Widely spaced teeth Associated Genes WDR35 (Withdrawn symbols: IFT121, [mousephenotype.org]

  • High Forehead

    forehead, telecanthus/epicanthus, full cheeks, everted lower lip). [ncbi.nlm.nih.gov]

    Cloverleaf skull ; Craniosynostosis ; Cutis laxa ; Cystic hygroma ; Depressed nasal bridge ; Dolichocephaly ; Ectodermal dysplasia ; Elevated hepatic transaminase ; Epicanthus ; Everted lower lip vermilion ; Frontal bossing ; Full cheeks ; Hepatomegaly ; High [mousephenotype.org]

  • Narrow Forehead

    forehead ; Narrow palpebral fissure ; Patent ductus arteriosus ; Patent foramen ovale ; Pectus excavatum ; Plagiocephaly ; Polyhydramnios ; Polysplenia ; Portal fibrosis ; Postaxial hand polydactyly ; Renal cyst ; Renal insufficiency ; Retrognathia ; [mousephenotype.org]

  • Neglect

    In the past 10 years a flurry of research has indicated a crucial role of this long-neglected organelle in the development and function of the central nervous system. [books.google.com]

  • Hyperactivity

    […] in the timing or the number of vascular endothelial cells undergoing programmed cell deathHP:0000232Everted lower lip vermilionMP:0020157abnormal behavioral response to alcoholany anomaly in the behavioral response induced by alcohol, such as induced hyperactivity [pediascape.org]

  • Posterior Fossa Cysts

    Posterior fossa anomalies were additional findings in this patient and included an enlarged cisterna magna and a posterior fossa cyst. [doi.org]

  • Small Kidney

    Postmortem findings in the two fetuses included acromesomelic shortening, craniofacial characteristics with absence of craniosynostosis, small kidneys with tubular and glomerular microscopic cysts, persistent ductal plate with portal fibrosis in the liver [doi.org]

    Two fetuses of 19 and 23 weeks gestation have also been reported. [5] They showed acromesomelic shortening, craniofacial characteristics with absence of craniosynostosis, small kidneys with tubular and glomerular microscopic cysts, persistent ductal plate [en.wikipedia.org]

  • Ventricular Hypertrophy

    hypertrophy ; Low-set ears ; Mesomelia ; Metopic synostosis ; Microdontia ; Micrognathia ; Midface retrusion ; Narrow chest ; Narrow forehead ; Narrow palpebral fissure ; Patent ductus arteriosus ; Patent foramen ovale ; Pectus excavatum ; Plagiocephaly [mousephenotype.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]

Management and treatment In many cases, renal function rapidly deteriorates, requiring treatment of metabolic acidosis, oral sodium chloride supplementation, then dialysis or renal transplantation in case of end-stage renal failure. [orpha.net]

Further, the various diseases of bone that are peculiar to children are highlighted and discussed in the light of our current knowledge with regard to causation, clinical signs and treatment. [books.google.de]

Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.org]

Prognosis Prognosis depends on renal, heart and lung defects which can be life threatening. The documents contained in this web site are presented for information purposes only. [orpha.net]

This is important information for clinicians looking after such children, and their families, when considering the long-term prognosis and management. [link.springer.com]

[…] history of CED The treatment options for Cranioectodermal Dysplasia include correction of the skeletal abnormalities through surgery, medication for organ dysfunction, physical therapy, growth hormone treatment, and special education amongst others The prognosis [dovemed.com]

Etiology CED is a heterogenous condition belonging to the ciliopathy group of diseases and is due to mutations in the IFT122, IFT43, WDR19 and WDR35 genes involved in intraflagellar transport (IFT). [orpha.net]

(Etiology) In 40% of the individuals with Cranioectodermal Dysplasia, the disorder is caused by mutation(s) in any of the following 4 genes: WDR35, WDR19, IFT122, and IFT43 Each of the causative genes codes for a protein that forms a subunit of a complex [dovemed.com]

Summary Epidemiology To date, 20 cases have been reported in the literature. [orpha.net]

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.ro]

Pathophysiology [ edit ] The IFT machinery is organized in two structural complexes — A and B. [en.wikipedia.org]

[…] alcohol, such as induced hyperactivity or stereotypic behaviorHP:0008070Sparse hairMP:0014179abnormal blood-retinal barrier functionanomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent [pediascape.org]

To have strong bones when you are young, and to prevent bone loss when you are older, you need to get enough calcium, vitamin D, and exercise. You should also avoid smoking and drinking too much alcohol. Bone diseases can make bones easy to break. [medlineplus.gov]

Currently, there are no specific methods or guidelines to prevent Cranioectodermal Dysplasia, since it is a genetic condition Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus [dovemed.com]

Your skin Holds body fluids in, preventing dehydration Keeps harmful microbes out, preventing infections Helps you feel things like heat, cold, and pain Keeps your body temperature even Makes vitamin D when the sun shines on it Anything that irritates [icdlist.com]