Features nearly 2,500 illustrations - 2,350 in full color - which depict each abnormality or condition as they present in practice. Presents practical information on autopsy techniques and protocols. [books.google.com]

Patients typically present clinical symptoms between the ages of… Continue Reading BridgeBio Pharma Raises $299 Million January 23, 2019 By Daniel S. [globalgenes.org]

Hunter-Jurenka-Thompson syndrome ORC syndrome Oculorenocerebellar syndrome Prevalence: <1 / 1 000 000 Inheritance: - Age of onset: Infancy ICD-10: - OMIM: 257970 UMLS: C1850331 MeSH: - GARD: 4050 MedDRA: - The documents contained in this web site are presented [orpha.net]

It often connects a series of words or propositions, presenting a choice of either; as, he may study law, or medicine, or divinity, or he may enter into trade. "If man's convenience, health, Or safety interfere, his rights and claims Are paramount." [kmle.co.kr]

• Disability

  Learn more Other less relevant matches: Low match WEAVER SYNDROME Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. [mendelian.co]

  […] hyperflexibility 60 33 hallmark (90%) Very frequent (99-80%) HP:0005692 8 glomerulopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0100820 9 abnormality of the retinal vasculature 60 33 hallmark (90%) Very frequent (99-80%) HP:0008046 10 intellectual disability [malacards.org]

  Kaufman oculocerebrofacial syndrome 0 *Eye Abnormalities *Intellectual Disability *Microcephaly *Limb Deformities, Congenital *Facies. [reference.md]

  corpus callosum agenesis - spastic quadriparesis X-linked intellectual disability - short stature – obesity X-linked intellectual disability, Abidi type X-linked intellectual disability, Najm type X-linked intellectual disability, Schimke type X-linked [rarediseases.info.nih.gov]

  + syndromic X-linked intellectual disability Abidi type syndromic X-linked intellectual disability Lubs type syndromic X-linked intellectual disability Siderius type Systemic Inflammatory Response Syndrome + Tabatznik Syndrome Takao VCF Syndrome Takenouchi-Kosaki [rgd.mcw.edu]

• Developmental Delay

  delay Short stature SOURCES: GARD ORPHANET DOID OMIM MONDO More info about CHROMOSOME 17q11.2 DELETION SYNDROME, 1.4-MB Top 5 symptoms//phenotypes associated to Spasticity and Joint hypermobility Symptoms // Phenotype % cases Global developmental delay [mendelian.co]

  Developmental delays and lack of responsiveness become evident within the first months of life as vision and hearing become impaired. [wohproject.org]

  […] coordination disorder DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES Developmental Delay, Epilepsy, and Neonatal Diabetes DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES Developmental [rgd.mcw.edu]

  delay, liver dysfunction, and abnormal subcortical white matter A #175100 Familial adenomatous polyposis 1 (FAP1) M #614937 Familial Cortical Myoclonus M #615999 Familial dysalbuminemic hyperthyroxinemia A #227645 Fanconi anemia, complementation group [biochemgenetics.ca]

  OMIM ID Human Disease OMIM:601665 Obesity OMIM:609734 Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair; OBAIRH OMIM:613886 Obesity, Hyperphagia, and Developmental Delay; OBHD OMIM:257500 Obesity-Hypoventilation Syndrome OMIM:164230 Obsessive-Compulsive [informatics.jax.org]

• Multiple Congenital Anomalies

  Homepage Rare diseases Search Search for a rare disease Severe oculo-renal-cerebellar syndrome Disease definition A rare multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, choreoathetosis, progressive [orpha.net]

  […] chemical sensitivity multiple congenital anomalies-hypotonia-seizures syndrome + Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability Multiple Hamartoma Syndrome + multiple mitochondrial dysfunctions syndrome + multiple pterygium [rgd.mcw.edu]

  […] café-au-lait spots Multiple congenital anomalies-hypotonia-seizures syndrome Multiple congenital anomalies-hypotonia-seizures syndrome type 2 Multiple endocrine neoplasia type 1 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B [rarediseases.info.nih.gov]

• Constipation

  […] cortical atrophy Hypospadias Abnormality of the dentition Renal insufficiency Milia Underfolded superior helices Poor hand-eye coordination Red eye Duodenal ulcer Cachexia Urethral stenosis Impaired social interactions Ileus Self-mutilation Chronic constipation [mendelian.co]

• Macrostomia

  Ablepharon macrostomia syndrome 0 *Abnormalities, Multiple *Eye Abnormalities *Macrostomia. Iridogoniodysgenesis, dominant type 0 *Eye Abnormalities *Glaucoma *Iris Diseases *Tooth Abnormalities Anterior Chamber/abnormalities. [reference.md]

  […] encephalopathy, and Leigh-like syndrome 3MC syndrome + 3p- syndrome 47, XYY Syndrome 49,XXXXX Syndrome 5-Nucleotidase Syndrome 7p2 Monosomy Syndrome Aagenaes syndrome Aarskog syndrome + Aase Smith Syndrome Abderhalden-Kaufmann-Lignac Syndrome ablepharon macrostomia [rgd.mcw.edu]

  […] microdeletion syndrome 6-pyruvoyl-tetrahydropterin synthase deficiency 7q11.23 duplication syndrome 8p23.1 duplication syndrome 8q12 microduplication syndrome Aagenaes syndrome Aarskog syndrome Abdominal aortic aneurysm Abetalipoproteinemia Ablepharon macrostomia [rarediseases.info.nih.gov]

• Macrocephaly

  Osteoporosis macrocephaly mental retardation blindness[?] Osteoporosis oculocutaneous hypopigmentation syndrome[?] Osteoporosis pseudoglioma syndrome[?] osteoporosis Osteosarcoma limb anomalies erythroid macrocytosis[?] [encyclopedia.kids.net.au]

  […] dermopathy white forelock Osteopetrosis autosomal dominant type 1 Osteopetrosis lethal Osteopetrosis renal tubular acidosis Osteopetrosis, (generic term) Osteopetrosis, malignant Osteopetrosis, mild autosomal recessive form Osteopoikilosis Osteoporosis macrocephaly [en.wikipedia.org]

  DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION macrocephaly-autism syndrome Macrophage Activation Syndrome Macrosomia Obesity Macrocephaly Ocular Abnormalities Maffucci syndrome Majeed Syndrome Malabsorption Syndromes + Male Hypogonadism with Mental [rgd.mcw.edu]

  #275210 Restrictive dermopathy, lethal OOM OCM M H #215100 Rhizomelic Chondrodysplasia Punctata, Type 1 (RCDP1) OCM M #614498 Rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL) A #604369 Salla Disease OOM #616682 Seizures, scoliosis, and macrocephaly [biochemgenetics.ca]

  […] inheritance Low-set ears Cognitive impairment Hearing impairment Scoliosis Ataxia Spastic paraparesis Nevus Downslanted palpebral fissures Long philtrum Tall stature Abnormality of cardiovascular system morphology Feeding difficulties Redundant skin Macrocephaly [mendelian.co]

• Dysarthria

  Intellectual disability, mild Attention deficit hyperactivity disorder Inguinal hernia Specific learning disability Broad forehead Mandibular prognathia Accelerated skeletal maturation Constipation Babinski sign Feeding difficulties in infancy Clinodactyly Dysarthria [mendelian.co]

  Cassidy syndrome Sebaceous gland hyperplasia, familial presenile Seckel like syndrome Majoor-Krakauer type Seckel syndrome Segmentation syndrome 1 Selective IgM deficiency Semantic dementia Sengers syndrome Senior Loken Syndrome Sensory ataxic neuropathy, dysarthria [rarediseases.info.nih.gov]

• Paresis

  Paraplegia with Kallmann Syndrome Spastic Paraplegia, Ataxia, and Mental Retardation SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy Spastic Paresis [rgd.mcw.edu]

  Hepatic lipase deficiency Hepatic venoocclusive disease with immunodeficiency Hepatoerythropoietic porphyria Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome Hereditary antithrombin deficiency Hereditary congenital facial paresis [rarediseases.info.nih.gov]

• Slurred Speech

  […] mass Psychomotor deterioration Infantile muscular hypotonia Cerebellar vermis atrophy Upper limb spasticity Spastic dysarthria Abnormality of the thumb Dysuria Upper limb muscle weakness Scleroderma Premature loss of teeth Ankle clonus Macroorchidism Slurred [mendelian.co]

• Involuntary Movements

  NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY Neurodevelopmental Disorder with Microcephaly, Epilepsy [rgd.mcw.edu]

• Agitation

  Retardation, and Deafness PSAT deficiency Pseudo-TORCH Syndrome + Pseudo-Zellweger Syndrome Pseudoaminopterin Syndrome pseudobulbar palsy + Pseudotrisomy 13 Syndrome Pseudouridinuria and Mental Defect psoriatic arthritis PSPH deficiency Psychomotor Agitation [rgd.mcw.edu]

• Kidney Failure

  Progressive sclerosis of renal glomeruli and arterioles seems to be responsible for gradual failure of kidney function. [wohproject.org]

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]

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 - Oculorenocerebellar syndrome Not supplied. Resources - Oculorenocerebellar syndrome Not supplied. [checkorphan.org]

Treatment: None known. Prognosis: This is a progressive disorder with death from kidney failure at about 8-13 years of age. Ancillary treatments and support: General support. Specialists and specialty centers: Neurologist, Nephrologists. [wohproject.org]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Prognosis - Oculorenocerebellar syndrome The \'prognosis\' of Oculorenocerebellar syndrome usually refers to the likely outcome of Oculorenocerebellar syndrome. [checkorphan.org]

Prognosis: This is a progressive disorder with death from kidney failure at about 8-13 years of age. Ancillary treatments and support: General support. Specialists and specialty centers: Neurologist, Nephrologists. [wohproject.org]

Prevention - Oculorenocerebellar syndrome Not supplied. Diagnosis - Oculorenocerebellar syndrome Not supplied. [checkorphan.org]