Symptoma

Brain Calcification Type Rajab

Rajab Syndrome

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]

Coarctation and/or hypoplasia of the thoracic aorta along with aortic valve anomalies are sometimes present. Intracranial and intraspinal lipomas are present in over 60% of individuals. [disorders.eyes.arizona.edu]

Cakir Mehtap - - 2004 A 23-year-old female with Costello syndrome is presented. [biomedsearch.com]

Most patients present in infancy or early childhood with poor growth and interstitial lung disease, which may lead to death. Some may also have liver, skeletal, and renal abnormalities, and most have intracranial calcifications on brain imaging. [ncbi.nlm.nih.gov]

  • Developmental Delay

    Aliases & Classifications for Rajab Syndrome Summaries for Rajab Syndrome MalaCards based summary : Rajab Syndrome, also known as developmental delay, small stature, microcephaly, and brain calcifications, is related to microcephaly, and has symptoms [malacards.org]

    delay, small stature, retinopathy and microcephaly. [orpha.net]

    EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD Is also known as aphasia, acquired, with epilepsy Related symptoms: Autosomal dominant inheritance Intellectual disability Seizures Global developmental delay Generalized [mendelian.co]

  • Epilepsy

    Frederick Andermann OC MD FRCPC is a Professor in the Departments of Neurology and Neurosurgery and Pediatrics at McGill University, and Director of the Epilepsy Service at the Montreal Neurological Institute and Hospital, Montreal, Quebec, Canada. [books.google.com]

    EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 6; EIEE6 Is also known as dravet syndrome, severe myoclonic epilepsy of infancy;smei;ds; smei; severe myoclonic epilepsy of infancy; severe myoclonus epilepsy of infancy Related symptoms: Autosomal dominant inheritance [mendelian.co]

    Zuccoli A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy Authors: S. Al -Yahyaee, L. I. Al -Gazali, P. De Jonghe, H. Al -Barwany, M. Al -Kindi, E. De Vriendt, P. Chand, R. Koul, P. C. Jacob, A. Gururaj, L. [search.crossref.org]

    It is associated with mental retardation, developmental delay, neuromotor disability, and epilepsy. Therefore, it is a major cause of neurological disability in children. [grantome.com]

    Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy. Elife. 4. [neurotree.org]

  • Short Stature

    # Description HPO Frequency HPO Source Accession 1 delayed skeletal maturation 32 HP:0002750 2 microcephaly 32 HP:0000252 3 short stature 32 HP:0004322 4 headache 32 HP:0002315 UMLS symptoms related to Rajab Syndrome: headache Drugs & Therapeutics for [malacards.org]

    Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). [ncbi.nlm.nih.gov]

    Brachydactyly type E (MIM 113300) presents with shortening of the metacarpals and phalanges in the ulnar ray in association with moderately short stature. [biomedsearch.com]

    Patients also exhibit short stature and vertebral fusion, and mild to moderate mental retardation has been noted in some cases. [mendelian.co]

    First described by Robinow et al in 1969 [1] this syndrome refers to a combination of short stature, characteristic facial dysmorphism (foetal facies), genital hypoplasia, and mesomelic brachymelia. [jpgmonline.com]

  • Short Stature

    # Description HPO Frequency HPO Source Accession 1 delayed skeletal maturation 32 HP:0002750 2 microcephaly 32 HP:0000252 3 short stature 32 HP:0004322 4 headache 32 HP:0002315 UMLS symptoms related to Rajab Syndrome: headache Drugs & Therapeutics for [malacards.org]

    Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). [ncbi.nlm.nih.gov]

    Brachydactyly type E (MIM 113300) presents with shortening of the metacarpals and phalanges in the ulnar ray in association with moderately short stature. [biomedsearch.com]

    Patients also exhibit short stature and vertebral fusion, and mild to moderate mental retardation has been noted in some cases. [mendelian.co]

    First described by Robinow et al in 1969 [1] this syndrome refers to a combination of short stature, characteristic facial dysmorphism (foetal facies), genital hypoplasia, and mesomelic brachymelia. [jpgmonline.com]

  • Pain

    PMID: 25413828 Naja Z, Al-Tannir M, El-Rajab M, Ziade F, Daher Y, Khatib H, Tayara K Clin J Pain 2009 Mar-Apr;25(3):199-205. doi: 10.1097/AJP.0b013e3181878f6d. [ncbi.nlm.nih.gov]

    Causes pain in various parts of the head corresponding to the sinus cavities (e.g. forehead pain, painful cheeks, etc.) [familydiagnosis.com]

    Storm spine/disc central pain 3 years and 227 days ago [email protected] completed their goal Eat three meals ! [tdp.me]

    […] seizures Intellectual disability, moderate Focal seizures Optic atrophy Rare Symptoms - Less than 30% cases Mitochondrial inheritance Anxiety Abnormality of mitochondrial metabolism Anorexia Lethargy Flexion contracture Photophobia Microphthalmia Abdominal pain [mendelian.co]

    Lohr C E - - 2004 Chilaiditi's syndrome refers to the symptoms of abdominal pain, distention, vomiting, anorexia, and constipation caused by hepatodiaphragmatic interposition of the intestine. [biomedsearch.com]

  • Failure to Thrive

    […] had no evidence of infection and history of nonorganic cause of failure to thrive. [pediatricneurosciences.com]

    Physical examination revealed severe microcephaly: head circumference 41 cm ( 6.2 SD) and failure to thrive: weight 10 kg, length 99 cm. [frontiersin.org]

    Systemic Features: Infants feed poorly which is frequently associated with vomiting, failure to thrive, and growth delay. [disorders.eyes.arizona.edu]

    […] to thrive Seborrheic keratosis Cholangiocarcinoma Morphological abnormality of the central nervous system Severe visual impairment Narrow nasal bridge Verrucae Abnormal vitreous humor morphology Anterior chamber synechiae Abnormal cochlea morphology [mendelian.co]

    Longman Cheryl - - 2004 We report a 14-year-old male, born to consanguineous parents, with microcephaly, intracranial calcification, severe mental retardation, cataracts, optic atrophy, pigmentary retinopathy, contractures, scoliosis, and failure to thrive [biomedsearch.com]

  • Urticaria

    Hypoplasia, Cataracts, And Aqueductal Stenosis Episodic Ataxia, Type 1 Episodic Ataxia, Type 3 Erythrocytosis, Familial, 1 Erythrocytosis, Familial, 2 Familial Cold Autoinflammatory Syndrome 1 Familial Cold Autoinflammatory Syndrome 2 Familial Cold Urticaria [familydiagnosis.com]

  • Skeletal Dysplasia

    dysplasia syndrome 3 Cases 1323 Camptodactyly-joint contractures-facial skeletal defects syndrome 4 Cases 85164 Camptodactyly-tall stature- scoliosis-hearing loss syndrome 30 Cases 1325 Camptodactyly-taurinuria syndrome 17 Cases 1328 Camurati-Engelmann [azkurs.org]

  • Cerebral Calcification

    We report a case of carbonic anhydrase II deficiency with short stature, mixed renal tubular acidosis, recurrent bone fractures due to trivial trauma, recurrent renal stones and cerebral calcification. [link.springer.com]

    Abstract Osteopetrosis with renal tubular acidosis and cerebral calcification was identified as a recessively inherited syndrome in 1972. [nejm.org]

    Cupler Choroido-cerebral calcification syndrome with retardation Authors: B. Singh, A. Jamil, S. A. Al -Shahwan, H. Sharif, S. M. Al -Deeb, N. Biary Teaching NeuroImages: Vestibular schwannomas in neurofibromatosis type 2 Authors: R. Nandhagopal, A. [search.crossref.org]

    Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. [ncbi.nlm.nih.gov]

    "Severe cerebral calcification in a case of LEOPARD syndrome". Intern. Med. 47 (21): 1925–9. doi : 10.2169/internalmedicine.47.1365. PMID 18981639. Preusser M, Kitzwoegerer M, Budka H, Brugger S (October 2007). [en.wikipedia.org]

  • Headache

    Classifications for Rajab Syndrome Summaries for Rajab Syndrome MalaCards based summary : Rajab Syndrome, also known as developmental delay, small stature, microcephaly, and brain calcifications, is related to microcephaly, and has symptoms including headache [malacards.org]

    Headaches have literally hundreds of causes. In most cases, the cause of a headache is a simple condition: just the everyday common headache, a tension headache, or something similar. [familydiagnosis.com]

    Headache MedGen UID: 9149 • Concept ID: C0018681 • Sign or Symptom Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. [ncbi.nlm.nih.gov]

    Brain MRI and CT scans were performedfor reasons of repetitive headache and a tightly closed head feltafter drinking alcohol. [documents.tips]

  • Learning Difficulties

    difficulties widespread brain calcifications Muscle Soft Tissue: poor muscle mass Clinical features from OMIM: 613658 Human phenotypes related to Rajab Syndrome: 32 # Description HPO Frequency HPO Source Accession 1 delayed skeletal maturation 32 HP: [malacards.org]

    Learning difficulties were noted in school and he was not able to complete intermediate school. [ncbi.nlm.nih.gov]

    She was said to suffer severe learning difficulties,and was unable to read; her speech was difficult to understand. [docslide.com.br]

  • Delayed Speech and Language Development

    speech and language development Abnormal facial shape Severe global developmental delay Abnormality of extrapyramidal motor function Lower limb spasticity Dysmetria Limb ataxia Frequent falls Choreoathetosis Athetosis Specific learning disability Dyskinesia [mendelian.co]

  • Delayed Bone Age

    bone age thin cortex bone Growth Weight: thin build Growth Height: short stature postnatal growth delay Neurologic Central Nervous System: headaches learning difficulties widespread brain calcifications Muscle Soft Tissue: poor muscle mass Clinical features [malacards.org]

    bone age NA Anemia NA 132 AMERICAN JOURNAL OF MEDICAL GENETICS PART ACerebrospinal fluid examination did not indicate meningitis. [docslide.com.br]

    bone age NA Anemia NA Family 1 Patient 1, the eldest affected, was a female with family history of intracerebral calcifications in three other siblings. [ncbi.nlm.nih.gov]

    bone age NA Anemia NA 132 AMERICAN JOURNAL OF MEDICAL GENETICS PART A Cerebrospinal fluid examination did not indicate meningitis. [docslide.net]

  • Delayed Bone Age

    bone age thin cortex bone Growth Weight: thin build Growth Height: short stature postnatal growth delay Neurologic Central Nervous System: headaches learning difficulties widespread brain calcifications Muscle Soft Tissue: poor muscle mass Clinical features [malacards.org]

    bone age NA Anemia NA 132 AMERICAN JOURNAL OF MEDICAL GENETICS PART ACerebrospinal fluid examination did not indicate meningitis. [docslide.com.br]

    bone age NA Anemia NA Family 1 Patient 1, the eldest affected, was a female with family history of intracerebral calcifications in three other siblings. [ncbi.nlm.nih.gov]

    bone age NA Anemia NA 132 AMERICAN JOURNAL OF MEDICAL GENETICS PART A Cerebrospinal fluid examination did not indicate meningitis. [docslide.net]

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]

Treatment Treatment Options: No treatment is available. [disorders.eyes.arizona.edu]

There is no definite treatment policy for ESS in children. The primary ESS with endocrine dysfunction is managed with hormonal supplementation depending on the type of hormone deficiency. [pediatricneurosciences.com]

Thus, the results of our work will help improve the genetic diagnosis and genetic counseling of this group of devastating disorders, and by unraveling the basic mechanisms of brain development, it is hoped to pave the way toward eventual treatment of [grantome.com]

PMID: 17377410 Prognosis Elbarsha A, Elhemri M, Lawgaly SA, Rajab A, Almoghrabi B, Elmehdawia RR Ann Saudi Med 2018 Sep-Oct;38(5):344-351. doi: 10.5144/0256-4947.2018.344. [ncbi.nlm.nih.gov]

[…] chorionic gonadotropin and/ or testosterone therapy during infancy has been suggested to improve penile length and testicular volume in male children. [10] With normal intelligence in most cases, and adequate sexual functioning and reproduction, [2] the prognosis [jpgmonline.com]

Parfrey PS (2000) Cardiac disease in dialysis patients: diagnosis, burden of disease, prognosis, risk factors and management. Nephrol Dial Transplant 15 Suppl 5: 58-68. 48. [aimspress.com]

It is important to differentiate PCH 2 from dyskinetic CP, not only for the prognosis of the patients, but also for prenatal diagnosis in future pregnancies. [frontiersin.org]

Etiology Brain calcification, Rajab type is associated with a genetic locus on chromosome 2. Genetic counseling Transmission is autosomal recessive. The documents contained in this web site are presented for information purposes only. [orpha.net]

Etiology Arabi YM, Al-Omari A, Mandourah Y, Al-Hameed F, Sindi AA, Alraddadi B, Shalhoub S, Almotairi A, Al Khatib K, Abdulmomen A, Qushmaq I, Mady A, Solaiman O, Al-Aithan AM, Al-Raddadi R, Ragab A, Al Mekhlafi GA, Al Harthy A, Kharaba A, Ahmadi MA, [ncbi.nlm.nih.gov]

The condition is predominantly found to be autosomal-dominant. [1] The etiology of Fahr's disease is very complex and still remains unknown. However, calcium deposits are the major elements responsible for the radiological appearance of the disease. [neurologyindia.com]

We report a patient with Seckel ... 547 Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for ... [biomedsearch.com]

ORPHA:178506 Synonym(s): - Prevalence: Inheritance: Autosomal recessive Age of onset: - ICD-10: - OMIM: 613658 UMLS: - MeSH: - GARD: - MedDRA: - Summary Epidemiology The syndrome has been described in eight children from two interrelated families. [orpha.net]

In addition, through the genetic epidemiological analysis of genetic microcephaly syndromes in Tunisia, we will be able to benefit the affected individuals and their families by developing improved genetic diagnosis and counseling. [grantome.com]

Foley RN, Parfrey PS, Sarnak MJ (1998) Clinical epidemiology of cardiovascular disease in chronic renal disease. Am J Kidney Dis 32: S112-119. 5. [aimspress.com]

Infantile hydrocephalus: A review of epidemiology, classification and causes European Journal of Medical Genetics. 57: 359-368. [neurotree.org]

Originally described in 1951, its pathophysiology remained a mystery for over 45 years. [ncl.ac.uk]

Insulin dysregulation and changes in insulin action have been of concern in the pathophysiology and clinical symptomatology of PD. [7] Therefore, we propose that for patients with Fahr's disease, genetic factors play a key role in the development of BGCs [neurologyindia.com]

Agarwal R (2005) Hypertension in chronic kidney disease and dialysis: pathophysiology and management. Cardiol Clin 23: 237-248. 8. [aimspress.com]

“Remember there are preventive behavioral steps and medicines that can help manage headaches. [familydiagnosis.com]

In secondary ES, the adhesion in sella following surgery, radiation, and infection prevent intrasellar herniation of suprasellar structure. [11] In our case, the patient had no history of previous operation or prolonged infection and was diagnosed to [pediatricneurosciences.com]

Treatment Treatment Options: The use of calcium channel blockers may have some benefit in preventing severe hemiplegic migraine. [disorders.eyes.arizona.edu]

Prevention of Primary Manifestations Dietary restriction of total fat intake may prevent hypertriglyceridemia (see Treatment of Manifestations ). [ncbi.nlm.nih.gov]

Early recognition of this condition is important for genetic counseling and prevention of progressive skeletal ... 523 Narrowing the candidate region of Albright hereditary osteodystrophy-like syndrome by deletion mapping ... [biomedsearch.com]