Microcephaly is present in all patients (between -2 and -5.6 SD). Persistent hyperplastic primary vitreous (uni- or bilateral) was present in all cases reported so far and may be associated with microphthalmia, cataract or optic atrophy. [orpha.net]

The spinal fluid of the latter case showed normal protein, chloride, and glu- cose levels and no cells were present. [myslide.es]

• Pain

  Paine RS (1960): Evaluation of familial biochemically determined mental retardation in children, with special reference to amino- aciduria. New Eng J Med 262: 658-665. [dokumen.tips]

  Acetaminophen for - Medication Osteoarthritis, Corticosteroid Injections for - Medication Osteoarthritis, History and Physical Examination for - Medical Test Osteoarthritis, Medical History and Physical Examination for - Medical Test Osteoarthritis, Opioid Pain [healthmedicinet.com]

  […] syndrome Familial episodic pain syndrome with predominantly lower limb involvement Familial episodic pain syndrome with predominantly upper body involvement Familial exudative vitreoretinopathy Familial focal epilepsy with variable foci Familial infantile [se-atlas.de]

  Iris vessel engorgement and recurrent intraocular hemorrhage can occur, which result in pain and possibly eventual phthisis bulbi. Microphthalmia is a prominent finding. [medtextfree.wordpress.com]

  People with glaucoma often have no early symptoms or pain. You can protect yourself by having dilated eye exams yearly. Glaucoma can be treated with prescription eye drops, lasers, or surgery. [familydiagnosis.com]

• Lymphedema

  Syndrome Lymphedema, Hereditary Lymphocytic Infiltrate of Jessner Lymphomatoid Granulomatosis Lynch Syndrome Lysosomal Storage Disorders Machado-Joseph Disease Macroglossia Macular Degeneration Madelung's Disease Maffucci Syndrome Malaria Mal de Debarquement [arrayit.com]

  – Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR): caused by KIF11 mutation. This syndrome is phenotypically variable. Not all patients have a clear ocular phenotype. [bredagenetics.com]

  Leigh syndrome, French Canadian type Lenz microphthalmia syndrome LEOPARD syndrome Leukodystrophy Ligneous conjunctivitis Limb-mammary syndrome Linear nevus sebaceous syndrome Lowe oculocerebrorenal syndrome Lowry Maclean syndrome Lubinsky syndrome Lymphedema-distichiasis [familydiagnosis.com]

  […] q13 Angelman syndrome due to maternal 15q11q13 deletion Angelman syndrome due to paternal uniparental disomy of chromosome 15 Angioosteohypertrophic syndrome Angioosteohypotrophic syndrome Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema [se-atlas.de]

• Congestive Heart Failure

  heart failure syndrome X-linked intellectual disability-cerebellar hypoplasia syndrome X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome X-linked intellectual disability-craniofacioskeletal syndrome X-linked intellectual [se-atlas.de]

• Heart Failure

  Food and Drug Administration granted Priority Review to Pfizer for its application to market tafamidis, its treatment for transthyretin amyloid cardiomyopathy (ATTR-CM), a rare, fatal, and underdiagnosed condition associated with progressive heart failure [globalgenes.org]

  […] syndrome Heart-hand syndrome type 2 Heart-hand syndrome type 3 Heart-hand syndrome, Slovenian type Hemimelia Hennekam syndrome Hepatic fibrosis-renal cysts-intellectual disability syndrome Hereditary breast cancer Hereditary cryohydrocytosis with reduced [se-atlas.de]

• Hearing Impairment

  […] anomalies syndrome Hypotonia-speech impairment-severe cognitive delay syndrome Hypotrichosis-intellectual disability, Lopes type Hypoxanthine guanine phosphoribosyltransferase partial deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency [se-atlas.de]

• Suggestibility

  The first patients described were offsprings of a consanguineous couple of Moroccan Jewish descent, suggesting autosomal recessive inheritance. An additional case was reported by Pellegrino et al. [2001: Am J Med Genet 99:200-203] in 2001. [unboundmedicine.com]

  Genetic counseling Familial reoccurrence and evidence of consanguinity in two of the three reported families are suggestive of autosomal recessive inheritance. [orpha.net]

• Compulsive Disorder

  O-Ob * O Doherty syndrome * O Donnell Pappas syndrome * Obesity * Obesophobia * Obsessive-compulsive disorder * Obstructive asymmetric septal hypertrophy * Obstructive sleep apnea Oc Occ-Och * Occipital horn syndrome * Occlusive Infantile ateriopathy [en.academic.ru]

  Obsessive-compulsive disorder Obstructive asymmetric septal hypertrophy[?] Occipital horn syndrome[?] Occlusive Infantile ateriopathy[?] Occult spinal dysraphism[?] Occupational Asthma - Chemicals[?] Occupational Asthma - Metals[?] [encyclopedia.kids.net.au]

  Hereditary Sensory, Type II Neuropathy, Hereditary Sensory, Type IV Neuropathy, Peripheral Neutropenia, General Nevoid Basal Cell Carcinoma Syndrome Niemann Pick Disease Nocardiosis Nonketotic Hyperglycinemia Noonan Syndrome Norrie Disease Obsessive Compulsive [arrayit.com]

• Grieving

  Obstacles to Grieving Obstetric Panel Obstetric Ultrasound - Medical Test Obstructive Hypertrophic Cardiomyopathy Obstructive Sleep Apnea Obstructive Sleep Apnea, Adenoidectomy for Obstructive Sleep Apnea, Continuous Positive Airway Pressure (CPAP) Therapy [healthmedicinet.com]

• Gerstmann Syndrome

  Anhalt - Spinal NADR Familial gynecomastia and septal heart defects Cataracts Gertsmann syndrome Dysplasia Noradrenaline Indomethacin antenatal infection Oculo oto radial syndrome Gerstmann-Badal syndrome Anhalt - Spinal Dysplasia Dorfman Chanarin syndrome [yumpu.com]

  Tongue Gerstmann Syndrome Gianotti Crosti Syndrome Giant Axonal Neuropathy Giant Cell Myocarditis Giardiasis Gilbert syndrome Glanzmann Thrombasthenia Glioblastoma Multiforme Glucose-6-Phosphate Dehydrogenase Deficiency Glucose-Galactose Malabsorption [arrayit.com]

Management and treatment Treatment should include surgical correction of the palate anomalies and management of the visual problems. Physical and speech therapy should also be recommended. [orpha.net]

Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.org]

Prognosis Although no data are available on the long-term prognosis, the nature of the anomalies suggests that life expectancy for these patients is normal. The documents contained in this web site are presented for information purposes only. [orpha.net]

[…] between two patterns of eye movement abnormality can help the physicians to narrow down the differential diagnosis and point out the possible etiology more precisely. [tremorjournal.org]

Etiology So far, neither a causative gene nor locus has been identified. [orpha.net]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.com]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.de]

Summary Epidemiology It has been described in five patients (three boys and two girls). Clinical description Maternal hypertension, oligoamnios and intrauterine growth retardation (IUGR) are often noted during pregnancy. [orpha.net]

Loss of GABAergic control at the level of the gap junction between neurons in the ION and loss of inhibitory signal from the cerebellar deep nuclei to contralateral ION are the possible pathophysiologic mechanism of FOPM.3,4 While the most common etiology [tremorjournal.org]

Acquired pendular nystagmus: its characteristics, localising value and pathophysiology. J Neurol Neurosurg Psychiatry 1974; 37 :570–7. 4. Gautier JC, Blackwood W. [nature.com]

It usually occurs with myoclonus which not only restricts to the cranial region but also involves limbs and trunk that may prevent the patients from sitting and standing. [tremorjournal.org]

With treatment, doctors often can prevent loss of vision. [familydiagnosis.com]

Centers for Disease Control and Prevention Intersex [ Read More ] [icdlist.com]

The specific insults that prevent regression of the primary vitreous remain unknown. [medtextfree.wordpress.com]

Arrayit Corporation ( ARYC ) leads and empowers the genetic, research, pharmaceutical, and diagnostic communities through the discovery, development and manufacture of proprietary life science technologies and consumables for disease prevention, treatment [arrayit.com]