The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]

The enamel may be hypoplastic and dental agenesis can be present. Supernumerary incisors have been described. The facial and dental features may be present in female carriers but are less pronounced. Females do not have intellectual impairment. [disorders.eyes.arizona.edu]

Abstract We report on a 12-year-old girl who presented with generalized enamel hypoplasia, cataracts, and enlargement of the cerebral ventricles secondary to aqueductal stenosis. [ncbi.nlm.nih.gov]

The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]

A 6-year-old child presents with her second episode of meningococcal meningitis. [theworldofpediatrics.wordpress.com]

• Lymphedema

  […] lower limbs Spastic dysarthria Facial myokymia Facial tics Abolished vibration sense Abnormal morphology of the cerebellar cortex Global developmental delay Hepatomegaly Hyperkeratosis Autism Developmental regression Episodic abdominal pain Vertigo Lymphedema [mendelian.co]

  Hereditary, III 1 Lymphedema, Primary, With Myelodysplasia 3 Lymphoproliferative Syndrome 2 1 Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1 2 Lymphoproliferative Syndrome, X-Linked, 1 5 Lymphoproliferative Syndrome, X-Linked, 2 3 Lynch [preventiongenetics.com]

  […] polydactyly IFT172 Asphyxiating thoracic dysplasia (ATD; Jeune), Retinitis pigmentosa, Short -rib thoracic dysplasia with or without polydactyly IHH Acrocapitofemoral dysplasia, Brachydactyly, Syndactyly type Lueken IKBKG Ectodermal, dysplasia, anhidrotic, lymphedema [genda.com.ar]

  Dysplasia and Immunodeficiency 1; EDAID1 OMIM:612132 Ectodermal Dysplasia and Immunodeficiency 2; EDAID2 OMIM:224800 Ectodermal Dysplasia and Neurosensory Deafness OMIM:300301 Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema [informatics.jax.org]

  Transient lymphedema feet and hands at birth (80–90%), short webbed neck, short fourth metacarpal, renal anomalies (horseshoe kidney), car- diac defects (coarctation of aorta), short stature, lack of secondary sex characteristics with primary amenorrhea [cram.com]

• Enuresis

  Nocturnal, 1; ENUR1 OMIM:600808 Enuresis, Nocturnal, 2; ENUR2 OMIM:131400 Eosinophilia, Familial OMIM:226350 Eosinophilic Fasciitis OMIM:131430 Eosinophilopenia OMIM:226400 Epidermodysplasia Verruciformis, Susceptibility to, 1; EV1 OMIM:618231 Epidermodysplasia [informatics.jax.org]

  Enuresis and encopresis are examples of : A. Psychosomatic disorder B. infection of urinary and GI tracts respectively C. elimination disorders D. sleep disorders 162. [theworldofpediatrics.wordpress.com]

• Episodic Pain

  1; FEPS1 OMIM:615551 Episodic Pain Syndrome, Familial, 2; FEPS2 OMIM:615552 Episodic Pain Syndrome, Familial, 3; FEPS3 OMIM:132500 Epistaxis, Hereditary OMIM:601315 Epithelial Basolateral Chloride Conductance Regulator, Rabbit, Homolog of OMIM:122400 [informatics.jax.org]

  Ataxia Type 1 2 Episodic Kinesigenic Dyskinesia 1 1 Episodic Pain Syndrome, Familial, 2 3 Episodic Pain Syndrome, Familial, 3 3 Epstein Syndrome 3 Erythrocytosis, Familial, 2 1 Erythroderma, Ichthyosiform, Congenital Reticular 1 Erythrokeratodermia Variabilis [preventiongenetics.com]

• Hyperkeratosis

  […] atrophy Lower limb hypertonia Weight loss Hypertrophic cardiomyopathy Areflexia of lower limbs Spastic dysarthria Facial myokymia Facial tics Abolished vibration sense Abnormal morphology of the cerebellar cortex Global developmental delay Hepatomegaly Hyperkeratosis [mendelian.co]

  Bullosa with Congenital Localized Absence of Skin and Deformity of Nails OMIM:131880 Epidermolysis Bullosa with Deficiency of Galactosylhydroxylysyl Glucosyltransferase OMIM:226735 Epidermolysis Bullosa with Diaphragmatic Hernia OMIM:113800 Epidermolytic Hyperkeratosis [informatics.jax.org]

  Hyperkeratosis "Disease" resulting in an "excess horny" layer of the skin. [medymology.com]

  3 2 Ichthyosis, congenital, autosomal recessive 4A 2 Ichthyosis, Congenital, Autosomal Recessive 8 1 Ichthyosis, Congenital, Autosomal Recessive 9 1 Ichthyosis, Congenital, Autosomal Recessive, Nipal4-Related 2 Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis [preventiongenetics.com]

• Ectopia Lentis

  Lentis 1, Isolated, Autosomal Dominant; ECTOL1 OMIM:225100 Ectopia Lentis 2, Isolated, Autosomal Recessive; ECTOL2 OMIM:225200 Ectopia Lentis Et Pupillae OMIM:129750 Ectopia Pupillae OMIM:129810 Ectrodactyly and Ectodermal Dysplasia without Cleft Lip [informatics.jax.org]

  lentis and with or without secondary glaucoma, Weill-Marchesani syndrome MATN3 Multiple epiphyseal dysplasia type 5 (EDM5), Spondyloepimetaphyseal dysplasia Matrilin type MMP9 Metaphyseal anadysplasia NEK1 SRPS type 2 (Majewski), Short -rib thoracic [genda.com.ar]

  lentis et pupillae 1 Ectopia Lentis, Isolated Autosomal Recessive 1 Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 3 EDICT Syndrome 1 Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss 3 Ehlers-Danlos [preventiongenetics.com]

• Epistaxis

  Dyskinesia 2; EKD2 OMIM:300211 Episodic Muscle Weakness, X-Linked; EMWX OMIM:615040 Episodic Pain Syndrome, Familial, 1; FEPS1 OMIM:615551 Episodic Pain Syndrome, Familial, 2; FEPS2 OMIM:615552 Episodic Pain Syndrome, Familial, 3; FEPS3 OMIM:132500 Epistaxis [informatics.jax.org]

  A 3-year-old girl presents with acute onset of purpura, and epistaxis. Her Hb 12 g/dl, TLC 5550/mm3, platelet count 2000/mm3. Diagnosis ? (A) ITP (B) ALL (C) Aplastic anemia (D) DIC 85. [theworldofpediatrics.wordpress.com]

• Speech Disorder

  OMIM:614417 Epilepsy, Familial Temporal Lobe, 5; ETL5 OMIM:615697 Epilepsy, Familial Temporal Lobe, 6; ETL6 OMIM:616436 Epilepsy, Familial Temporal Lobe, 7; ETL7 OMIM:616461 Epilepsy, Familial Temporal Lobe, 8; ETL8 OMIM:245570 Epilepsy, Focal, with Speech [informatics.jax.org]

  Platelet-Type, 11 3 Bleeding Disorder, Platelet-Type, 13, Susceptibility To 3 Bleeding Disorder, Platelet-Type, 14 2 Bleeding Disorder, Platelet-Type, 15 2 Bleeding Disorder, Platelet-Type, 17 3 Bleeding Disorder, Platelet-Type, 18 1 Bleeding Disorder [preventiongenetics.com]

• Kidney Failure

  Angiomyolipomas are the most common kidney lesion found in TSC. These benign lesions are usually bilateral and asymptomatic. However, they can bleed, and cause pain or kidney failure. Renal cysts are also common. [healio.com]

• Occipital Slowing

  Positive Spike Phenomenon OMIM:130300 Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups OMIM:130400 Electroencephalographic Peculiarity: Occipital Slow Beta Waves OMIM:256710 Elejalde Disease OMIM:611804 Elliptocytosis 1; EL1 OMIM [informatics.jax.org]

• Early Repolarization

  OMIM ID Human Disease OMIM:128290 Ear Antitragus, Tag at Base of OMIM:128300 Ear Exostoses OMIM:128500 Ear Folding OMIM:128980 Earlobes, Thickened, with Conductive Deafness From Incudostapedial Abnormalities OMIM:613601 Early Repolarization Associated [informatics.jax.org]

Treatment Steps 1. Aggressive treatment usually not indicated; 80% die by 1 month, 5% survive 6 months. 2. Grief and genetic counseling. 3. [cram.com]

The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]

Sayers NP, Kosnik EJ (1976) Third ventriculostomy as the rational treatment of obstructive hydrocephalus. Childs Brain 2:24–30 PubMed Google Scholar 40. Scarff JE (1935) Third ventriculostomy as a rational treatment of obstructive hydrocephalus. [link.springer.com]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]

Pedigree: X-linked recessive, carrier mother X-linked recessive, father affected Treatment Treatment Options: Visually significant cataracts should be removed early to allow for normal visual maturation. Glaucoma must be treated appropriately. [disorders.eyes.arizona.edu]

Prognosis - Enamel hypoplasia cataract hydrocephaly Not supplied. Treatment - Enamel hypoplasia cataract hydrocephaly Not supplied. Resources - Enamel hypoplasia cataract hydrocephaly Not supplied. [checkorphan.org]

Prognosis based on renal and pulmonary damage. [cram.com]

Levitsky DB, Mack LA, Nyberg DA (1995) Fetal aqueductal stenosis diagnosed sonographically: how grave is the prognosis? AJR 164 (3): 721–730 Google Scholar 29. Manwaring K (1922) Endoscopic ventricular fenestration. [link.springer.com]

The natural history of lymphangioleiomyomatosis: markers of severity, rate of progression and prognosis. [healio.com]

Whipple Disease (Intestinal Lipodystrophy) 1340 General: Multisystem disorder; prominent in males; onset between fourth and seventh decades; etiology unknown. [dentisty.org]

Etiology of this lesion remains unclear till today. Possible factors causing primary aqueductal stenosis such as genetic dis orders, infectious disease or vitamin shortage during pregnancy are described. [link.springer.com]

Most likely explanation for her urticaria is (A) Food allergy (B) Connective tissue disease (C) Drug allergy (D) Idiopathic etiology 78. [theworldofpediatrics.wordpress.com]

Genet D'Arcy, "As a neurologist, I would have to state that it would be my opinion that neural tube defects felt to be etiologically related to a teratogen should all be included and not just one, as that does not make embryologic logical sense. [2ndbattalion94thartillery.com]

Symptoms Multisystem involvement depending on gestational age, birth weight, and etiology. [cram.com]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]

"Blood Pressure" [SH] (epidemiology AND humans) [SH] SI Secondary Source ID The SI field identifies secondary source databanks and accession numbers, e.g., GenBank, GEO, PubChem, ClinicalTrials.gov, ISRCTN. [biomedsearch.com]

Trends in the prevalence of tuberous sclerosis complex manifestations: an epidemiological study of 166 Japanese patients. PLoS One. 2013;8(5):e63910. doi:10.1371/journal.pone.0063910 [CrossRef] Huang J, Dibble CC, Matsuzaki M, Manning BD. [healio.com]

Although each condition, or phakomatosis, is distinct and characterized by a unique pathophysiology, the concept of neurocutaneous disorders unifies those neurological disorders whose identification depends primarily on simple visual diagnosis. [clinicalgate.com]

Pathophysiology of Sturge-Weber syndrome. J Child Neurol. 2003;18(8):509–516. doi:10.1177/08830738030180080701 [CrossRef] Roach ES. Neurocutaneous syndromes. Pediatr Clin North Am. 1992;39(4):591–620. Fusco F, Paciolla M, Conte MI, et al. [healio.com]

[…] in which patients experience and feel symptoms that are not specifically caused by a medical condition Patients with somatoform disorder will present with vague symptoms that cannot be traced to a specific medical finding, positive test results, or pathophysiology [medymology.com]

What is the pathophysiology of Barter syndrome A. Hyperplasis of juxtaglomerular apparatus B. Interstitial nephritis C. Distal tubular dilatation D. Distal tubular necrosis 179. [theworldofpediatrics.wordpress.com]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]

[…] ventricles * Narrowed aqueduct of Sylvius * Hydrocephalus Causes - Enamel hypoplasia cataract hydrocephaly * Acutane embryopathy - hydrocephalus * Adams-Oliver syndrome * Alexander disease * Alexander Syndrome - hydrocephalus * Alpha-L-iduronidase deficiency Prevention [checkorphan.org]

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 of prematurity is goal (see Prematurity section). 2. [cram.com]

With improved medical techniques, such as bone marrow transplantation, many of the neurologic symptoms of Hurlers syndrome can be prevented, and affected patients may be able to live longer and fuller lives. [documents.tips]