Edit concept Question Editor Create issue ticket

Enamel Hypoplasia Cataracts and Aqueductal Stenosis

Enamel Hypoplasia Cataracts Aqueductal Stenosis


Presentation

  • 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]
  • 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 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]
  • 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]
Epilepsy
  • Mental Retardation; FESD OMIM:616577 Epilepsy, Hearing Loss, and Mental Retardation Syndrome; EHLMRS OMIM:613339 Epilepsy, Hot Water, 1; HWE1 OMIM:613340 Epilepsy, Hot Water, 2; HWE2 OMIM:600669 Epilepsy, Idiopathic Generalized; EIG OMIM:613060 Epilepsy[informatics.jax.org]
  • , Childhood Absence 5 2 Epilepsy, Childhood Absence 6 1 Epilepsy, Early-Onset, Vitamin B6-Dependent 1 Epilepsy, familial focal, with variable foci 4 Epilepsy, Familial Focal, with Variable Foci 2 4 Epilepsy, Familial Focal, with Variable Foci 3 1 Epilepsy[preventiongenetics.com]
  • Most patients with mental retardation have epilepsy, but many have seizures and normal intelligence.[clinicalgate.com]
  • Psychomotor retardation, autism, epilepsy, language disorders, hypotonia, and macro- and microcephaly are common neurologic manifestations in children with HI.[healio.com]
  • , mental retardation, and speech dyspraxia SRY 46,XX disorder of sex development, 46,XY disorder of sex development STAT5B Growth hormone insensitivity with immunodeficiency STIL Microcephaly SYN1 Epilepsy, with variable learning disabilities and behavior[genda.com.ar]
Developmental Delay
  • Some patients (30%) also have some intellectual impairment while others have developmental delays and behavior problems. The pinnae may be anteverted and often appear large while the nose and nasal bridge are prominent.[disorders.eyes.arizona.edu]
  • delay Ataxia Cataract SOURCES: ORPHANET SCTID UMLS OMIM More info about ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY; AMACRD Low match VON HIPPEL-LINDAU DISEASE Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with[mendelian.co]
  • Delay and Seizures with or Without Movement Abnormalities DVL019 DEDSM Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair DVL018 DEDSSH Developmental Delay, Intellectual Disability, Obesity, and Dysmorphic Features DVL020 DIDOD[malacards.org]
  • Seizures are most often the first presenting symptom of TSC, especially infantile spasms. 2 Most children will also experience some degree of developmental delay.[healio.com]
  • delay Hepatomegaly Hyperkeratosis Autism Developmental regression Episodic abdominal pain Vertigo Lymphedema Aplasia/Hypoplasia of the cerebellum Hemiplegia/hemiparesis Generalized amyotrophy Telangiectasia of the skin Abnormality of brainstem morphology[mendelian.co]
Multiple Congenital Anomalies
  • congenital anomalies-hypotonia-seizures syndrome PIK3CA CLOVES, Cowden syndrome PITX2 Axenfeld-Rieger syndrome, Iridogoniodysgenesis, Peters anomaly, Ring dermoid of cornea PLOD1 Ehlers-Danlos syndrome PLOD2 Bruck syndrome, Osteogenesis imperfecta type[genda.com.ar]
  • 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]
Broad Thumb
  • thumb and toes (Teunissen-Cremers syndrome), Symphalangism, proximal, Tarsal-carpal coalition syndrome NOTCH1 Aortic valve disease NOTCH2 Alagille syndrome, Hajdu-Cheney syndrome NPR2 Acromesomelic dysplasia type Maroteaux, Epiphyseal chondrodysplasia[genda.com.ar]
  • Thumb And Toes 1 STAR Syndrome 1 Stargardt Disease 1 7 Stargardt Disease 3 4 Stargardt Disease 4 4 Steel Syndrome 1 Stickler Syndrome Type 1 4 Stickler Syndrome, Type 2 4 Stickler Syndrome, Type 3 3 Stickler Syndrome, Type 4 4 Stickler Syndrome, Type[preventiongenetics.com]
Rigor
  • By condensing much of the information presented in the first volume of the previous edition, and exercising rigorous editorial control, Drs.[books.google.com]
Failure to Thrive
  • Early failure to thrive, hyperactivity. Fetal Alcohol Effects/Syndrome  Description Results from fetal exposure through maternal alcohol use.[cram.com]
  • Symptoms of the disorder may include unusual facial appearance, difficulty swallowing, failure to thrive, muscle spasms, seizures, and severe psychomotor retardation. Hands, fingers, or toes may be deformed.[2ndbattalion94thartillery.com]
Muscle Rigidity
  • rigidity ; meningeal inflammation; encephalitis; poliomyelitis; acute flaccid paralysis Hershberger VS, Augsburger JJ, Hutchins RK, et al.[dentisty.org]
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]
Alopecia
  • Other dermatologic manifestations include wooly hair and alopecia. Nail involvement may range from nail pitting to onychogryphosis. 22 Figure 6.[healio.com]
  • 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 2 Ichthyosis, Leukocyte Vacuoles, Alopecia[preventiongenetics.com]
Erythema
  • Nodosum, Familial OMIM:227000 Erythema of Acral Regions OMIM:133000 Erythema Palmare Hereditarium OMIM:133020 Erythermalgia, Primary OMIM:612874 Erythrocyte Amp Deaminase Deficiency OMIM:245340 Erythrocyte Lactate Transporter Defect OMIM:133100 Erythrocytosis[informatics.jax.org]
  • All of the following findings may occur in juvenile rheumatoid arthritis (JRA) EXCEPT (A) Uveitis (B) High, spiking fever (C) Erythema marginatum (D) Enlargement of the spleen 142.[theworldofpediatrics.wordpress.com]
Fracture
  • Other skeletal abnormalities include long-bone dysplasia (resulting in pathological fractures and subsequent pseudoarthrosis), scoliosis, and bony erosion secondary to adjacent tumor. Dysplasia of the sphenoid wing is common.[clinicalgate.com]
  • Triad of positive family history, frequent fractures, or blue sclera not 100% sensitive. Need skin biopsy for definitive diagnosis.  Treatment Steps 1. Genetic classification. 2. Orthopedic and dental care. 3.[cram.com]
  • (A) Forehead swelling with an underlying linear skull fracture (B) Multiple bruises of the extensor surfaces of the lower legs (C) Unilateral periorbital bruising (“black-eye”) (D) Linear bruises over the back 69.[theworldofpediatrics.wordpress.com]
Speech Disorders
  • 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]
  • disorder and with or without mental retardation 4 Epilepsy, Hearing Loss, and Mental Retardation Syndrome 1 Epilepsy, Idiopathic Generalized 9 1 Epilepsy, Idiopathic Generalized, Susceptibility To, 11 1 Epilepsy, Idiopathic Generalized, Suscpetibility[preventiongenetics.com]

Treatment

  • 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]
  • .  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]
  • 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

  • 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]

Etiology

  • 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]

Epidemiology

  • 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]
  • 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]
Sex distribution
Age distribution

Pathophysiology

  • 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]

Prevention

  • 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]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!