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X-Linked Intellectual Disability - Seizures - Psoriasis Syndrome

Tranebjaerg-Svejgaard Syndrome


Presentation

  • The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • Treatment is based on the signs and symptoms present in each person and may include medications to control seizures. 0001249 Psoriasiform dermatitis 0003765 Seizures Seizure 0001250 X-linked inheritance 0001417 Showing of 4 Last updated: 12/1/2018 If[rarediseases.info.nih.gov]
  • Collagen Vascular Diseases Question 44 out of 54 Babloo a 4 year male presents with history of seizures. On examination there is hypopigmedted patches on face & mental retardation.[gradestack.com]
  • Curtis Rogers Each chapter contains a differential matrix for each XLID syndrome and extensive illustrations of clinical features Presents clinical and laboratory data on 150 syndromes Defines each syndrome and provides information on somatic features[global.oup.com]
  • The face is typically long and narrow, and a high arched palate, large ears, otitis media, strabismus, and dental problems are present.[healthcentral.com]
Disability
  • - seizures - psoriasis; X-linked intellectual disability-seizures-psoriasis syndrome See More Categories: Tranebjaerg Svejgaard syndrome is a rare condition that is characterized by intellectual disability , seizures and psoriasis .[rarediseases.info.nih.gov]
  • disability Najm type syndromic X-linked intellectual disability Nascimento type syndromic X-linked intellectual disability Shashi type syndromic X-linked intellectual disability Shrimpton type syndromic X-linked intellectual disability Siderius type[familydiagnosis.com]
  • […] intellectual disability- plagiocephaly syndrome 2 Cases 85318 X-linked intellectual disability- precocious puberty-obesity syndrome 3 Cases 3077 X-linked intellectual disability- psychosis-macroorchidism syndrome 6 Cases 3052 X-linked intellectual disability[azkurs.org]
  • disability, Hedera type X-linked intellectual disability, Miles-Carpenter type X-linked intellectual disability, Najm type X-linked intellectual disability, Nascimento type X-linked intellectual disability, Pai type X-linked intellectual disability,[se-atlas.de]
  • Epilepsia. 2012 Jan;53(1):134-46 SeSAME syndrome 0 *Hearing Loss, Sensorineural *Intellectual Disability *Seizures.[reference.md]
Epilepsy
  • Benign childhood occipital epilepsy, Gastaut type Benign childhood occipital epilepsy, Panayiotopoulos type Benign familial infantile epilepsy Benign familial mesial temporal lobe epilepsy Benign familial neonatal epilepsy Benign familial neonatal-infantile[se-atlas.de]
  • Disability Syndrome Due to WWOX Deficiency; Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to TUD Deficiency; Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to KIAA0226 Deficiency[paidresearchstudies.org]
  • Epilepsy and intellectual disability linked protein Shrm4 interaction with GABABRs shapes inhibitory neurotransmission, Nature Communications (2017).[medicalxpress.com]
  • […] joint contractures-dysmorphism syndrome X-linked intellectual disability-epilepsy syndrome X-linked intellectual disability , Gu type X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome X-linked intellectual[familydiagnosis.com]
  • Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder." note other specific seizure terms in MeSH; audiogenic or acoustic seizures See Also Anticonvulsants ; Convulsants ; Eclampsia ; Epilepsy ; Kindling, Neurologic Other names Seizures[reference.md]
Multiple Congenital Anomalies
  • Multiple chemical sensitivity Multiple congenital anomalies mental retardation, growth failure and cleft lip palate[?] Multiple congenital contractures[?] Multiple contracture syndrome Finnish type[?] Multiple endocrine neoplasia type 1[?][encyclopedia.kids.net.au]
  • congenital anomalies-hypotonia-seizures syndrome Multiple congenital anomalies-hypotonia-seizures syndrome type 2 Multiple mitochondrial dysfunctions syndrome type 3 Multiple sulfatase deficiency Multiple system atrophy Multiple system atrophy, cerebellar[se-atlas.de]
  • Congenital Anomalies-Hypotonia-Seizures Syndrome 2 1 Multiple Endocrine Neoplasia, Type 1 2 Multiple Endocrine Neoplasia, Type 2A 3 Multiple Endocrine Neoplasia, Type 2B 2 Multiple Endocrine Neoplasia, Type IV 1 Multiple Epiphyseal Dysplasia 1 3 Multiple[preventiongenetics.com]
Weakness
  • Symptoms - Tranebjaerg Svejgaard syndrome The list of signs and symptoms mentioned in various sources for Tranebjaerg-Svejgaard syndrome includes the 16 symptoms listed below: Mental retardation Seizures Psoriasis Dry skin Speech defect Weak eye muscles[checkorphan.org]
  • Feeding and growth difficulties of CP hypotonia (weak suck), poor coordination of the swallowing mechanism, tonic bite reflex, hyperactive gag reflex, and exaggerated tongue thrust. These problems may lead to poor nutrition.[quizlet.com]
  • Congenital, X-Linked 2 Cataract, Zonular Pulverulent 1 1 Catecholaminergic Polymorphic Ventricular Tachycardia, 1 7 Catecholaminergic Polymorphic Ventricular Tachycardia, 4 5 Catecholaminergic Polymorphic Ventricular Tachycardia, 5, with or without Muscle Weakness[preventiongenetics.com]
Physician
  • There are many physicians who do not have a desk computer or do not History feel at ease in using one.[books.google.com]
  • In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers.[rarediseases.info.nih.gov]
  • The disorder was first described in the 1960s by the Austrian physician Andreas Rett.[britannica.com]
Respiratory Distress
  • distress Protruding jaw Note that Tranebjaerg-Svejgaard syndrome symptoms usually refers to various symptoms known to a patient, but the phrase Tranebjaerg-Svejgaard syndrome signs may refer to those signs only noticable by a doctor.[checkorphan.org]
  • distress, jaundice, enlarged liver and spleen chronic synovial inflammation of unknown cause. at least 6 weeks of objective synovitis.[quizlet.com]
  • distress type 1 Spinal muscular atrophy with respiratory distress type 2 Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Spinocerebellar ataxia type 1 Spinocerebellar[se-atlas.de]
  • Distress 4 Choroid Plexus Papilloma 3 Choroidal Dystrophy, Central Areolar 2 2 Choroideremia 7 Chromosome 9Q Deletion Syndrome 2 Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome 2 Chronic Infantile Neurological[preventiongenetics.com]
Mitral Valve Prolapse
  • Other common characteristics include hyperextensible joints, hypotonia, and heart problems including mitral valve prolapse. In males, abnormally large testes are a distinctive feature.[healthcentral.com]
  • Mitral valve prolapse, familial, autosomal dominant[?] Mitral valve prolapse, familial, X linked[?] Mitral valve prolapse[?] Miura syndrome[?] Mixed connective tissue disease[?] Mixed Mullerian tumor[?] Mixed sclerosing bone dystrophy[?][encyclopedia.kids.net.au]
  • valve prolapse (a leaky heart valve) fragile x Common behavior Hand flapping, lack of eye contact or gaze avoidance, hyperactivity, inattention, aggression, anxiety, behavior problems, repetitive speech, talkativeness, echololic speech, lack of coordination[quizlet.com]
Macroglossia
  • Macroglossia dominant[?] Macroglossia exomphalos gigantism[?] Macrogyria pseudobulbar palsy[?] Macrophagic myofasciitis[?] Macrosomia developmental delay dysmorphism[?] Macrosomia microphthalmia cleft palate[?][encyclopedia.kids.net.au]
Muscle Weakness
  • Weakness 4 Catel-Manzke Syndrome 1 CATSPER-Related Male Infertility 3 Central Core Disease 8 Cerebellar Atrophy, Vsual Impairment, and Psychomotor Retardation 3 Cerebral Amyloid Angiopathy, App-Related 3 Cerebral Arteriopathy, Autosomal Dominant, with[preventiongenetics.com]
Muscle Hypotonia
  • Qazi Markouizos syndrome 0 *Abnormalities, Multiple *Growth Disorders *Intellectual Disability *Muscle Hypotonia *Seizures.[reference.md]
Lacrimation
  • Thoracic 4 4 Aortic Aneurysm, Familial Thoracic 6 4 Aortic Aneurysm, Familial Thoracic 7 4 Aortic Aneurysm, Familial Thoracic 8 3 Aortic Aneurysm, Familial Thoracic 9 2 Aortic Valve Disorder 1 Apert Syndrome 6 Aphakia, Congenital Primary 3 Aplasia Of Lacrimal[preventiongenetics.com]
Dermatitis
  • Treatment is based on the signs and symptoms present in each person and may include medications to control seizures. 0001249 Psoriasiform dermatitis 0003765 Seizures Seizure 0001250 X-linked inheritance 0001417 Showing of 4 Last updated: 12/1/2018 If[rarediseases.info.nih.gov]
  • Diagnosis of Atopic Dermatitis: Mimics, Overlaps, and Complications. J. Clin. Med. 2015 , 4 , 884-917. Show more citation formats [Return to top][mdpi.com]
  • […] sulfatase Skin: psoriasis Clinical features from OMIM: 309480 Human phenotypes related to Mental Retardation and Psoriasis: 32 # Description HPO Frequency HPO Source Accession 1 intellectual disability 32 HP:0001249 2 seizures 32 HP:0001250 3 psoriasiform dermatitis[malacards.org]
  • Copper deficiency, familial benign 0 *Hair Diseases *Metabolism, Inborn Errors *Dermatitis, Seborrheic *Seizures Copper/deficiency.[reference.md]
  • Polycystic kidney disease, type 2 Polycystic kidney disease, type 3 Polycystic kidney disease Polycystic ovarian disease, familial Polycystic ovarian syndrome Polycystic ovaries urethral sphincter dysfunction Polycythemia vera Polydactyly alopecia seborrheic dermatitis[bioreference.net]
Koebner Phenomenon
  • Trauma can trigger the isomorphic effect or Koebner’s phenomenon, in which lesions develop at sites of injury. Infections, especially those resulting from beta-hemolytic streptococci, may cause a flare-up of guttate (drop-shaped) lesions.[checkorphan.org]
Dry Skin
  • Symptoms - Tranebjaerg Svejgaard syndrome The list of signs and symptoms mentioned in various sources for Tranebjaerg-Svejgaard syndrome includes the 16 symptoms listed below: Mental retardation Seizures Psoriasis Dry skin Speech defect Weak eye muscles[checkorphan.org]
Suggestibility
  • Researchers have discovered a significantly higher-than-normal incidence of certain human leukocyte antigens (HLA) in families with psoriasis, suggesting a possible immune disorder. Onset of the disease is also influenced by environmental factors.[checkorphan.org]
  • SELECTED GENES FOR YOUR SLICE SUGGESTED CUSTOM SLICES Customize below OR enter Suggested Slice ID on printed requisition form (e.g. 706 XomeDx Slice - Slice ID: CS-Albinism).[genedx.com]
  • B Tuberous sclerosis Seizures, mental retardation and hypopigmented patches on face (Ash - leaf spot) suggest the diagnosis of tuberous sclerosis. Flip[gradestack.com]
  • Autism is suggested by poor eye contact, hand flapping, hand biting, and self-stimulating behaviors. Poor sensory skills and mathematical ability are sometimes found in conjunction with good reading skills.[healthcentral.com]
  • The new study suggests that fragile X likely also causes overactive transmitters that send out too much information.[health-innovations.org]
Thick Lips
  • […] for Tranebjaerg-Svejgaard syndrome includes the 16 symptoms listed below: Mental retardation Seizures Psoriasis Dry skin Speech defect Weak eye muscles Poor muscle tone Mouth held open Anteverted nostrils Ataxia Large mouth Large tongue Curved spine Thick[checkorphan.org]
Seizure
  • , Tranebjaerg type seizures and psoriasis; Tranebjaerg-Svejgaard syndrome; X-linked intellectual disability - seizures - psoriasis; X-linked intellectual disability-seizures-psoriasis syndrome See More Categories: Tranebjaerg Svejgaard syndrome is a rare[rarediseases.info.nih.gov]
  • Overview Tranebjaerg-Svejgaard syndrome: A rare syndrome characterized mainly by mental retardation, seizures and a skin disorder.[checkorphan.org]
  • , Sensory; Seizures, Motor; Seizures, Generalized; Seizures, Focal; Seizures, Convulsive; Jacksonian Seizure; Convulsive Seizures; Convulsions; Tonic Seizure; Somatosensory Seizures; Somatosensory Seizure; Sensory Seizures; Sensory Seizure; Seizures,[reference.md]
  • Diseases related to Mental Retardation and Psoriasis via text searches within MalaCards or GeneCards Suite gene sharing: Symptoms via clinical synopsis from OMIM: 57 Neuro: mental retardation seizures Lab: normal steroid sulfatase Skin: psoriasis Clinical[malacards.org]
  • Mental retardation with optic atrophy, deafness & seizures: A disorder first reported in 1999 by Gustavson and colleagues as a newly recognized X-linked mental retardation syndrome.[medicinenet.com]
Ataxia
  • […] signs and symptoms mentioned in various sources for Tranebjaerg-Svejgaard syndrome includes the 16 symptoms listed below: Mental retardation Seizures Psoriasis Dry skin Speech defect Weak eye muscles Poor muscle tone Mouth held open Anteverted nostrils Ataxia[checkorphan.org]
  • Gluten Ataxia; Friedreich Ataxia; Fragile X-associated Tremor/Ataxia Syndrome; Familial Paroxysmal Ataxia; Exposure to Medications Ataxia; Episodic Ataxia With Slurred Speech; Episodic Ataxia Unknown Type; Episodic Ataxia Type 7; Episodic Ataxia Type[paidresearchstudies.org]
  • […] type 1 Spinocerebellar ataxia type 10 Spinocerebellar ataxia type 11 Spinocerebellar ataxia type 12 Spinocerebellar ataxia type 13 Spinocerebellar ataxia type 14 Spinocerebellar ataxia type 15/16 Spinocerebellar ataxia type 17 Spinocerebellar ataxia[se-atlas.de]
  • […] spinocerebellar ataxia type 4 1 Family 910 Xeroderma pigmentosum 0.23 BP * 90342 Xeroderma pigmentosum variant 50 Cases 220295 Xeroderma pigmentosum- Cockayne syndrome complex 30 Cases 3469 XK aprosencephaly 10 Cases 314389 Xq12-q13.3 duplication syndrome[azkurs.org]
  • X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome X-linked spinocerebellar ataxia type 3 X-linked spinocerebellar ataxia type 4 • • • Back to: « Syndromic intellectual disability, X-linked Back to: « Intellectual disability[familydiagnosis.com]
Cerebellar Ataxia
  • Recessive Cerebellar Ataxia Due to a DNA Repair Defect; Autosomal Recessive Cerebellar Ataxia - Saccadic Intrusion; Autosomal Recessive Cerebellar Ataxia - Psychomotor Retardation; Autosomal Recessive Cerebellar Ataxia - Blindness - Deafness; Autosomal[paidresearchstudies.org]
  • ataxia Autosomal dominant cerebellar ataxia type I Autosomal dominant cerebellar ataxia type II Autosomal dominant cerebellar ataxia type III Autosomal dominant cerebellar ataxia type IV Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome[se-atlas.de]
  • ataxia 3 Families 391330 X-linked osteoporosis with fractures 5 Families 363654 X-linked parkinsonism- spasticity syndrome 5 Cases 83648 X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome 1 Family ORPHA Number Disease[azkurs.org]
  • ataxia X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome X-linked spinocerebellar ataxia type 3 X-linked spinocerebellar ataxia type 4 • • • Back to: « Syndromic intellectual disability, X-linked Back to: « Intellectual[familydiagnosis.com]
  • ataxia Prune belly syndrome Prurigo nodularis Psellismophobia Pseudoachondroplasia Pseudoachondroplastic dysplasia 1 Pseudoachondroplastic dysplasia Pseudoadrenoleukodystrophy Pseudoaminopterin syndrome Pseudoarylsulfatase A deficiency Pseudocholinesterase[bioreference.net]
Paresis
  • Charcot-Marie-Tooth Disease Type 2F 5 Charcot-Marie-Tooth Disease Type 2I 5 Charcot-Marie-Tooth Disease Type 2J 5 Charcot-Marie-Tooth Disease Type 2K 4 Charcot-Marie-Tooth Disease, Axonal, Type 2O 5 Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis[preventiongenetics.com]

Workup

Mycobacterium Avium Complex
  • Mycobacterium avium complex infection[?] Mycophobia[?] Mycoplasmal pneumonia[?] Mycosis fungoides lymphoma[?] Mycosis fungoides, familial[?] Mycosis fungoides[?] Mycositis fungoides[?] Myelinopathies[?] Myelitis Myelocerebellar disorder[?][encyclopedia.kids.net.au]

Treatment

  • The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
  • Treatment - Tranebjaerg Svejgaard syndrome Not supplied. Resources - Tranebjaerg Svejgaard syndrome Not supplied.[checkorphan.org]
  • Gengoux oversees the supervision of a team of therapists providing parent training and in-home treatment for a randomized controlled trial of Pivotal Response Treatment (PI: Hardan) which is nearing completion. Dr.[med.stanford.edu]
  • Treatment Turner syndrome is a genetic condition with no cure, but treatment may help resolve issues with short stature, sexual development, and learning difficulties.[medicalnewstoday.com]

Prognosis

  • Prognosis - Tranebjaerg Svejgaard syndrome Not supplied. Treatment - Tranebjaerg Svejgaard syndrome Not supplied. Resources - Tranebjaerg Svejgaard syndrome Not supplied.[checkorphan.org]

Etiology

  • Ataxia; X-linked Non Progressive Cerebellar Ataxia; X-linked Cerebellar Ataxia; Vitamin B12 Deficiency Ataxia; Toxic Exposure Ataxia; Unclassified Autosomal Dominant Spinocerebellar Ataxia; Thyroid Antibody Ataxia; Sporadic Adult-onset Ataxia of Unknown Etiology[paidresearchstudies.org]
  • […] malformation syndrome Spondylocostal dysostosis-hypospadias-intellectual disability syndrome Spondyloepiphyseal dysplasia tarda, Kohn type Spondyloepiphyseal dysplasia, Nishimura type Sporadic Creutzfeldt-Jakob disease Sporadic adult-onset ataxia of unknown etiology[se-atlas.de]

Prevention

  • And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • Prevention - Tranebjaerg Svejgaard syndrome Not supplied. Diagnosis - Tranebjaerg Svejgaard syndrome Not supplied. Prognosis - Tranebjaerg Svejgaard syndrome Not supplied. Treatment - Tranebjaerg Svejgaard syndrome Not supplied.[checkorphan.org]
  • Characteristically starts in a sun-exposed area (of the head, neck, arms or legs) in whites 60-80 years of age as a firm, painless, shiny lump that can be red, pink, or blue in color and vary in size from less than a quarter of an inch […] What steps do you take to prevent[definithing.com]
  • Growth hormone therapy should start if the girl does not grow normally, to prevent short stature and social stigmatization later in life.[medicalnewstoday.com]
  • The defect, or mutation, on the FMR1 gene prevents the gene from properly making a protein called the fragile X mental retardation 1 protein. This protein plays a role in the functioning of the nervous system.[healthline.com]

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