Paraplegia with Precocious Puberty: 32 # Description HPO Frequency HPO Source Accession 1 precocious puberty 32 HP:0000826 2 intellectual disability 32 HP:0001249 3 spastic paraplegia 32 HP:0001258 4 dysarthria 32 HP:0001260 5 abnormality of metabolism [malacards.org]

/ 4918/ spastic-paraplegia-with-precocious-puberty • • • Note: This site is for informational purposes only and is not medical advice. [familydiagnosis.com]

Home Diseases Spastic paraplegia with precocious puberty Title Other Names: Familial spastic paraplegia, mental retardation, and precocious puberty; Precocious puberty with spastic paraplegia This table lists symptoms that people with this disease may [rarediseases.info.nih.gov]

Keywords Precocious puberty Phenylketonuria Hyperphenylalaninaemia Gonadotropin-realising hormone agonist treatment Background True Central Precocious puberty (TCPP), also called GnRH-dependent precocious puberty, can be defined as true puberty, mediated [bmcendocrdisord.biomedcentral.com]

puberty syndrome (OMIM 182820) Spastic paraplegia with Leydig cell hypoplasia, precocious puberty, brisk leg reflexes, dysarthria, and mild mental retardation which is transmitted as an autosomal dominant trait. spastic paraplegia-optic atrophy-dementia [neo-genetics.com]

Organized in three sections, the first part reviews diagnostic considerations and testing while the final section highlights special considerations such as aging with pediatric-onset disability and polytrauma. [books.google.com]

[…] retardation brisk leg reflexes dysarthria Clinical features from OMIM: 182820 Human phenotypes related to Spastic Paraplegia with Precocious Puberty: 32 # Description HPO Frequency HPO Source Accession 1 precocious puberty 32 HP:0000826 2 intellectual disability [malacards.org]

[…] have these symptoms is not available through HPO Abnormality of metabolism/homeostasis Laboratory abnormality Metabolism abnormality [ more ] 0001939 Autosomal dominant inheritance 0000006 Dysarthria Difficulty articulating speech 0001260 Intellectual disability [rarediseases.info.nih.gov]

Intellectual Disability Intellectual disability, autosomal recessive Intellectual Disability Intellectual disability, syndromal Intellectual Disability Intellectual disability, X-linked Intellectual Disability Joubert syndrome Intellectual Disability [genomediagnosticsnijmegen.nl]

A United States Bureau of Census report from 2004 found in excess of 32 million disabled adults and 5 million children with disabilities aged less than 18 years. [karger.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]

Physicians began prescribing estrogen to treat children with acromegaly, or excessive-growth disorder, in the 1940s. [nytimes.com]

Signs are the objective evidence of the disorder, documented, for example by physician examination, laboratory studies, or magnetic resonance images (MRI). [rarediseases.org]

[…] where he was inducted as a Fellow in the ACP and has been a recipient of the Irving Addison Beck Award from the Rhode Island Chapter of the American College of Physicians. [elsevier.com]

ENDOCRINE DISEASE AND OBESITY HYPOPARATHYROIDISM - deficiency of thyroid hormone can cause fatigue, cold intolerance, dry skin, hair loss, sleepiness, gain weight, constipation, and depression. [drhc.ae]

Cervical Dysplasia Cervical Polyp Cervicitis Chagas’ Disease Chancroid Charcot’s Joint Chest Pain, Children Chest Pain, Nonpleuritic Chest Pain, Pleuritic Chickenpox Cholangitis Cholecystitis Cholelithiasis Cholestasis Chorea Choreoathetosis Chronic Fatigue [elsevier.com]

Childhood apraxia of speech Childhood-onset hypophosphatasia Chilblain lupus Choroidermia - hypopituitarism Chromosomal anomaly Chromosome 18q Deletion Syndrome Chronic autoimmune hepatitis Chronic inflammatory demyelinating polyneuropathy Chronic muscular fatigue [sanfordresearch.org]

Abnormal pyramidal sign Psychosis Intention tremor Generalized muscle weakness Dyskinesia Postural instability Lethargy Abnormality of the foot Distal sensory impairment Aggressive behavior Progressive spastic paraplegia Myoclonus Cerebral cortical atrophy Fatigue [mendelian.co]

Psychomotor deterioration Multiple myeloma Urinary retention Restrictive cardiomyopathy Constrictive median neuropathy Sensory ataxia Motor deterioration Syringomyelia Atrioventricular block Abnormal autonomic nervous system physiology Increased CSF protein Malnutrition [mendelian.co]

Failure Conjunctival Neoplasm Conjunctivitis Constipation Contact Dermatitis (Contact Eczema) Constipation Constipation, Adult Patient Conversion Disorder Corneal Abrasion Corneal Sensation, Decreased Corneal Ulceration Cor Pulmonale Costochondritis [elsevier.com]

failure Vomiting Arrhythmia Hemiparesis Aphasia Orthostatic hypotension due to autonomic dysfunction Amyloidosis Psychomotor deterioration Multiple myeloma Urinary retention Restrictive cardiomyopathy Constrictive median neuropathy Sensory ataxia Motor [mendelian.co]

Cardiac disease is frequently present and heart failure is the most common cause of death. Most patients have hypertrophic cardiomyopathy with characteristic EKG changes and some have subaortic stenosis as part of the hypertrophied myocardium. [disorders.eyes.arizona.edu]

Pain, Children Chest Pain, Nonpleuritic Chest Pain, Pleuritic Chickenpox Cholangitis Cholecystitis Cholelithiasis Cholestasis Chorea Choreoathetosis Chronic Fatigue Syndrome Chronic Inflammatory Demyelinating Polyneuropathy Chronic Obstructive Pulmonary [elsevier.com]

Source MeSH Adult Diseases in Twins Epiphyses Genetic Counseling Humans Male Metacarpus Muscle Spasticity Paraplegia Risk Factors Syndrome Pub Type(s) Case Reports Journal Article Language eng PubMed ID 3430547 Citation Fitzsimmons, J S., and P R. [unboundmedicine.com]

Fitzsimmons Walson Mellor syndrome 0 *Glomerulonephritis, IGA *Hearing Loss, Sensorineural *Intellectual Disability *Muscle Spasticity *Spastic Paraplegia, Hereditary. [reference.md]

One caveat however: although early childhood-onset forms of HSP may be “non-progressive”, the degree of spasticity may increase slowly if adequate range-of-motion is not maintained through stretching exercises and muscle spasticity reduction. [rarediseases.org]

Eosinophiluria Ephelides (Freckles) Epicondylitis Epidermoid Cyst (Sebaceous Cyst, Epidermal Inclusion Cyst) Epididymitis Epiglottitis Epilepsy Episcleritis Epistaxis Epstein-Barr Infection Erectile Dysfunction, Organic Erosions, Genitalia Erysipelas Erythema [elsevier.com]

It is a primitive experience but it could do a lot for the patients who were satisfied with the erythema and regimentation of their lesions. [drmhijazy.com]

Every entry is standardized for quick look-up in the office or clinic, and features description, etiology, risk factors, clinical features, natural history, diagnosis, red flags, treatment, prognosis, helpful hints and suggested readings. [books.google.com]

SUGGESTED PROGRAMMATIC ASSESSMENT* Suggested MER for evaluation: • Clinical history and examination that describes the diagnostic features of the disorder. • Developmental assessment or psychological testing to address allegations of intellectual disability [secure.ssa.gov]

When the evidence suggests that there is no association with a Mendelian or chromosomal disorder then the recurrence risk is relatively low at between 1% and 5%. [ 7 ] Presentation [ 6 ] Symptoms often occur in early infancy with 80-90% of individuals [patient.info]

This finding is in contrast to a previous report which suggested persistently high phenylalaninemia levels as potential trigger for CPP in PKU patients. [bmcendocrdisord.biomedcentral.com]

The inheritance in these brothers is most likely an autosomal recessive pattern because the parents were normal and there was no family history to suggest an X-linked recessive inheritance. [documents.tips]

behavior Congenital cataract Delayed puberty Intellectual disability, borderline Back pain Arthralgia Muscle cramps Abnormality of peripheral nerve conduction Urinary incontinence Personality disorder Dysgraphia Urinary urgency Dysmetria Ankle contracture [mendelian.co]

Diabetes, increase blood pressure, Hirschsprung disease, Speech and language problems, Behavior disorder, dental abnormalities. PRADER WILLIS – is a genetic condition in infancy. [drhc.ae]

More Symptoms of Spastic paraplegia with precocious puberty » • • • Back to: « Spastic paraplegia Causes See also causal information: Causes of Spastic paraplegia Names and Terminology References Source: GARD (NIH): rarediseases.info.nih.gov/ diseases [familydiagnosis.com]

/homeostasis 32 HP:0001939 Search GEO for disease gene expression data for Spastic Paraplegia with Precocious Puberty. [malacards.org]

Home Diseases Spastic paraplegia with precocious puberty Title Other Names: Familial spastic paraplegia, mental retardation, and precocious puberty; Precocious puberty with spastic paraplegia This table lists symptoms that people with this disease may [rarediseases.info.nih.gov]

Spastic paraplegia 12, autosomal dominant 0 *Spastic Paraplegia, Hereditary. Spastic paraplegia 11, autosomal recessive 0 *Spastic Paraplegia, Hereditary. Spastic paraplegia 10, autosomal dominant 0 *Spastic Paraplegia, Hereditary. [reference.md]

which is transmitted as an autosomal dominant trait. spastic paraplegia-retinal degeneration syndrome (OMIM 270700) Synonym: familial spastic paraplegia with retinal degeneration recessive spastic paraplegia with retinal degeneration Spastic paraplegia [neo-genetics.com]

Seizures are treated with standard anticonvulsant medications. [secure.ssa.gov]

Spastic paraplegia and seizures may be present. In 10-20% of individuals with DWS, signs and symptoms do not appear until late childhood or adulthood. [patient.info]

CHEDIAK-HIGASHI SYNDROME; CHS Is also known as ;chédiak-higashi disease; chédiak-higashi-steinbrink syndrome Related symptoms: Autosomal recessive inheritance Intellectual disability Seizures Global developmental delay Generalized hypotonia SOURCES: MONDO [mendelian.co]

He has had no further seizures and is wheelchair-dependent at the present time. [documents.tips]

Seizures, Absence Seizures, Febrile Seizures, Partial Seizures, Pediatric Septicemia Serotonin Syndrome Severe Acute Respiratory Syndrome (SARS) Sexual Precocity Sexually Transmitted Diseases, Anorectal Region Sexual Precocity Sheehan’s Syndrome Shigellosis [elsevier.com]

Symptoms via clinical synopsis from OMIM: 57 Endocrine: precocious puberty Lab: leydig cell hyperplasia Neuro: spastic paraplegia mental retardation brisk leg reflexes dysarthria Clinical features from OMIM: 182820 Human phenotypes related to Spastic [malacards.org]

Showing of 6 Percent of people who have these symptoms is not available through HPO Abnormality of metabolism/homeostasis Laboratory abnormality Metabolism abnormality [ more ] 0001939 Autosomal dominant inheritance 0000006 Dysarthria Difficulty articulating [rarediseases.info.nih.gov]

Diseases related with Dysarthria and Spastic paraplegia In the following list you will find some of the most common rare diseases related to Dysarthria and Spastic paraplegia that can help you solving undiagnosed cases. [mendelian.co]

In addition, they have a non-specific dysarthria and low-normal intellectual ability. SN - 0022-2593 UR - L2 - DB - PRIME DP - Unbound Medicine ER - [unboundmedicine.com]

Neurological involvement includes pyramidal disorders, dysarthria, impaired vibratory sense, and dysfunction of the glossopharyngeal (ninth), vagus (tenth), and hypoglossal (twelfth) nerves. [neo-genetics.com]

disturbance Cleft lip Vitreous floaters Stroke-like episode Coma Malabsorption Hypotension Migraine Neuronal loss in central nervous system Nephropathy Polyneuropathy Gliosis Stroke Adult onset Cardiomegaly Facial palsy Headache Progressive Constipation [mendelian.co]

carcinoma N D00000028 Lung cancer N D00000029 Lung carcinoma N D00000030 Intraductal papillary mucinous carcinoma N D00000031 Intraductal papillary mucinous neoplasm N D00000032 Cutaneous malignant melanoma N D00000033 Cutaneous melanoma N D00000034 [genes2cognition.org]

carcinoma Adult idiopathic neutropenia Adult-onset distal myopathy due to VCP mutation Adult polyglucosan body disease Adult hypophosphatasia Adult-onset autosomal recessive cerebellar ataxia Adult-onset chronic progressive external ophthalmoplegia with [sanfordresearch.org]

Carcinoma Hepatomegaly Hepatomegaly, By Shape Of Liver Hepatorenal Syndrome Hermaphroditism Herpangina Herpes Simplex, Genital Herpes Simplex, Oral Herpes Zoster Hiatal Hernia Hiccups Hidradenitis Suppurativa Hip Pain, Children Hip Pain, In Different [elsevier.com]