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]

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]

# 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]

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]

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 children were thought to be unusually small or underweight as neonates. [ncbi.nlm.nih.gov]

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]

[…] 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]

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]

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]

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]

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]

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]

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]

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]