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]

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]

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

A 4-year-old male child born by nonconsanguineous marriage presented to pediatric OPD with complaint of abdominal distension, poor weight gain, and short stature. No history of polyuria or polydipsia was present. [pediatricneurosciences.com]

• 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]

• 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]

  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]

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

• Pain

  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]

  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]

  […] 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]

• Underweight

  Birthparameters are noted below when available, but none of the affected130 AMERICAN JOURNAL OF MEDICAL GENETICS PART Achildren were thought to be unusually small or underweight asneonates.Family 1Patient 1, the eldest affected, was a female with family [docslide.com.br]

  Birth parameters are noted below when available, but none of the affected 130 AMERICAN JOURNAL OF MEDICAL GENETICS PART A children were thought to be unusually small or underweight as neonates. [docslide.net]

  Birth parameters are noted below when available, but none of the affected children were thought to be unusually small or underweight as neonates. [ncbi.nlm.nih.gov]

• Poor Growth

  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]

  Poor growth secondary to feeding difficulties have been reported. Death can occur in early childhood. Dysmorphic features include a short neck, bitemporal narrowing, depressed nasal bridge, and proximal limb shortening. [disorders.eyes.arizona.edu]

• Vomiting

  Vomiting. A headache is also common due to vomiting, often after the vomiting episode. It is important to determine the cause of the vomiting ; read more about: Vomiting. [familydiagnosis.com]

  The disorder is accompanied by features of central nervous system involvement, including seizures, hemiparesis, hemianopsia, cortical blindness, and episodic vomiting ( Pavlakis et al., 1984 ; Montagna et al., 1988 ).Other mitochondrial encephalomyopathies [mendelian.co]

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

  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]

  Pontocerebellar hypoplasia 2 presents in the first months of life, or soon after birth, as feeding difficulties due to swallowing incoordination; regurgitations, vomiting, failure to thrive, respiratory difficulties or apneas, sleep disorders like difficulty [frontiersin.org]

• 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]

  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]

  […] 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]

• Nausea

  Other parts of the brain may also be part of the process, causing nausea, vomiting, diarrhea, trouble concentrating, and other neurological symptoms. [familydiagnosis.com]

  Renal insufficiency Hypoplasia of the iris Amblyopia Proteinuria Deeply set eye Abnormality of immune system physiology Cryptorchidism Blindness Hypertelorism Astigmatism Acrania Retinal detachment Corneal opacity Congenital cataract Malar flattening Nausea [mendelian.co]

  He reported periodic headachesoccurring mostly in the mornings that responded only partiallyto analgesics and were not associated with visual disturbance,nausea, or vomiting. He had a history of hand tremors andunprovoked sweating episodes. [docslide.com.br]

  He reported periodic headaches occurring mostly in the mornings that responded only partially to analgesics and were not associated with visual disturbance, nausea, or vomiting. He had a history of hand tremors and unprovoked sweating episodes. [docslide.net]

  He reported periodic headaches occurring mostly in the mornings that responded only partially to analgesics and were not associated with visual disturbance, nausea or vomiting. He had a history of hand tremors and unprovoked sweating episodes. [ncbi.nlm.nih.gov]

• Ectopia Lentis

  lentis Stereotypy Opacification of the corneal stroma Intellectual disability, progressive Intellectual disability, profound Sleep disturbance Sclerocornea Thin vermilion border Abnormality of the eye Macrotia X-linked recessive inheritance Hypertonia [mendelian.co]

• 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]

• Broad Nasal Bridge

  Ahn Joe K - - 2003 A son and daughter of consanguineous Ashkenazi Jewish parents presented with phenotypic features that are typically seen in Zellweger syndrome: high forehead, broad nasal bridge, epicanthal fold, upslanting palpebral fissures, and micrognathia [biomedsearch.com]

• 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]

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

  She had no history of headaches, no visual deficit, no history of fractures, no anaemia. Examined at age 15 years, she was small in stature, of slight build and poor muscle mass with no skin lesions, normal hair and nails. [ncbi.nlm.nih.gov]

• 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]

  Brain CT scan is the preferred method of localizing and assessing the extent of cerebral calcifications. [en.wikipedia.org]

• Confusion

  Warburg (1966) noted confusion of the terms 'pseudoglioma' and microphthalmia with Norrie disease in the literature. [mendelian.co]

  Get medical help right away if you have a headache after a blow to your head, or if you have a headache along with fever, confusion, loss of consciousness, or pain in the eye or ear. [familydiagnosis.com]

• Delayed Speech and Language Development

  […] apraxia Dysphasia Abnormal cerebellum morphology Language impairment Dysdiadochokinesis Apraxia Urinary incontinence Polymicrogyria Autistic behavior Intellectual disability, severe Delayed speech and language development Abnormal facial shape Severe [mendelian.co]

• Neglect

  The nonorganic failure is seen in the child below 5 years of age due to emotional deprivation, neglect, child abuse and due to accident. [pediatricneurosciences.com]

• Delayed Bone Age

  […] or GeneCards Suite gene sharing: # Related Disease Score Top Affiliating Genes 1 microcephaly 10.3 Symptoms & Phenotypes for Rajab Syndrome Symptoms via clinical synopsis from OMIM: 57 Head And Neck Head: microcephaly Skeletal: delayed bone age thin [malacards.org]

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

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

  + + + + + + + + Poor muscle mass + + + + + + + + Learning difficulties + + + + + NA + − Reduced exercise tolerance + + + + + + + + Headaches + + + + + NA + − Bone Fractures − − − + − − − − Thin cortex bone + + + + + NA + + Delayed bone age + + + + + [ncbi.nlm.nih.gov]

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

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]

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]

Case reports have suggested that haloperidol or lithium carbonate may help with psychotic symptoms. [22] One case report described an improvement with the use of a bisphosphonate. [23] Prognosis [ edit ] The prognosis for any individual with PFBC is variable [en.wikipedia.org]

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]

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]

Familial IBGC commonly shows anautosomal dominant pattern of inheritance, but its etiology isunknown [Oliveira et al., 2007]. [documents.tips]

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]

At RJBS Ltd we also make sure that all members of staff have a variety of training courses, for example Equality, Diversity & Inclusion, Person Centred Care, Privacy & Confidentiality, Safeguarding, Infection Prevention & Control, Dementia Moving & Handling [rjbs-ltd.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]