2008-11-03T19:53:38+00:00

Pachygyria is a congenital malformation of the cerebral hemisphere causing developmental delay and seizures.

Developmental delays. Poor muscle tone. Delays in holding head upright, talking, crawling, and walking.

MRI

PT, OT, and Speech therapy

1238 Pachygyria

pachygyria

Per 100,000 Population

2010-01-26T19:05:58+00:00

Autosomal dominant.

2009-07-20T14:04:36+00:00

Pallister-Hall Syndrome [PHS] is a multiple-anomaly rare genetic disorder caused by mutations in the GLI3 gene, short arm of the 7th Chromosome.

Pallister-Hall Syndrome [PHS] is a multiple-anomaly rare genetic disorder caused by mutations in the GLI3 gene, short arm of the 7th Chromosome. Primary diagnostic features of PHS include: Hypothalamic Hamartoma [HH] of the Hypothalamus; Bifid Epiglottis; Syndactyly; Polydactyly and Gelastic ‘Seizures’.

1402 Pallister-Hall Syndrome

pallister-hall-syndrome

Per 100,000 Population

CAVE Syndrome; Cerebro-Acro-Visceral-Early Lethality [CAVE] Syndrome; Congenital Hypothalamic Hamartoblastoma [Hamartomablastoma]; 4H Syndrome; Hall-Pallister Syndrome; Hall Syndrome 2; Hamartopolydactyly Syndrome; HH; Hypopituitarism; Hypothalamic Hamartoblastoma-Hyperphalangeal Hypendocrine-Hypoplastic Anus [4H] Syndrome; Hypothalamic Hamartoblastoma-Hypopituitarism-Imperforate Anus-Postaxial Polydactyly Syndrome; Hypothalamic Hamartoblastoma Syndrome; Imperforate Anus; Microphallus-Imperforate Anus-Syndactyly-Hamartoblastoma-Abnormal Lung Lobulation-Polydactyly [MISHAP] Syndrome; MISHAP Syndrome; PAP; PAP-A; PHS; Postaxial Polydactyly and Renal-Anal-Lung-Polydactyly-Hamartoblastoma [RALPH] Syndrome; Postaxial Polydactyly Type A; PPD-IV; Preaxial Polydactyly Type IV; RALPH Syndrome, Pallister Hall Syndrome

2009-08-07T03:18:17+00:00

There is no known cause of PKS.

2009-01-09T14:25:53+00:00

Pallister-Killian Syndrome is a rare genetic disorder occuring due to tetrasomy of the twelfth chromosome.

2509

Symptoms may include but are not limited to: developmental delays low muscle tone additional fingers or toes diaphragmatic hernia seizures hypopigmentation sparse hair pattern broad nasal bridge respitory problems hearing impairment vision impairment

PKS may be diagnosed via a buccal smear and by skin biopsy. Blood testing should be done via the new microarray testing.

Each symptom/affliction should be treated individually. Occupational and Physical therapy, hearing aids, glasses, medications, etc.

1308 Pallister-Killian Syndrome

pallister-killian-syndrome

Cases

There is no known prognosis, though it’s likely people affected by PKS may have a shortened lifespan. There are adults with PKS who are in their 30’s.

Pallister Killian Syndrome, Tetrasomy 12p Mosaicism, Pallister Mosaic Aneuploidy Syndrome, PSK

2009-08-28T21:08:29+00:00

2009-02-20T22:53:47+00:00

PANDAS is a rapid onset of obsessive-compulsive disorder after a group A β-hemolytic streptococcal infection.

PANDAS is a rapid onset of obsessive-compulsive disorder after a group A β-hemolytic streptococcal infection

1356 PANDAS

pandas

Per 100,000 Population

Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections

2009-02-20T22:53:47+00:00

2008-05-25T23:13:42+00:00

Panhypopituitarism is a rare disorder characterized by the decreased secretion of hormones from the pituitary gland.

1068 Panhypopituitarism

panhypopituitarism

0.75

Per 100,000 Population

Hypopituitarism, PHP, Underactive Pituitary Gland, PHPX, Panhypopituitarism X-linked, Pituitary dwarfism IV

2009-12-31T01:56:26+00:00

2008-05-21T13:25:35+00:00

Papillon–Lefevre Syndrome is a rare genetic disorder caused by a cathepsin C deficiency.

969 Papillon-Lefevre Syndrome

papillon-lefevre-syndrome

0.25

http://www.orpha.net

Per 100,000 Population

Papillon Lefevre Syndrome, PLS

2009-08-04T14:24:55+00:00

2009-06-09T20:39:14+00:00

Paraneoplastic cerebellar degeneration is believed to be the body’s immune system’s attempt to destroy a tumor resulting in damage to the cerebellum.

My experience with the symptoms include: feet feel asleep 100% of the time; appetite changed; taste sensation changed; balance severely diminished; ataxia; myoclonic jerks; lethargy, weakness, &/or fatigue; diminished memory & logical capacity.

I responded very well to intravenous dosages of methylprednisolone (1 gram at a time)… started off daily for 5, then weekly, then bi-weekly, and now monthly. When I was taken off, in hopes that my CellCept rx would do the trick, I had a total & complete relapse. Now am back on steroid & symptom-free except for the asleep feet. Dr Sean Pittock at the Mayo Clinic (Rochester) is principally treating me, but I must give kudos to my local internist (Dr EC O’Bryan) and neurologist (Dr Michael Hodge) for a very early suspicion & diagnosis.

1394 Paraneoplastic Cerebellar Degeneration

paraneoplastic-cerebellar-degeneration

Per 100,000 Population

Will be taking steroids long-term. No longevity effect anticipated.

2009-07-13T21:38:18+00:00

2009-02-12T18:47:59+00:00

Paraneoplastic Limbic Encephalitis is a form encephalitis caused by neoplasms associated with small cell lung carcinoma.

1329 Paraneoplastic Limbic Encephalitis

paraneoplastic-limbic-encephalitis

Per 100,000 Population

PLE

2009-06-16T00:46:50+00:00

2008-11-30T16:48:11+00:00

Parapsoriasis is a heterogenous group of rare skin disorders characterized by red, scaly skin.

Parapsoriasis is a heterogenous group of rare skin disorders characterized by red, scaly skin. Parapsoriasis is unrelated to psoriasis.

1260 Parapsoriasis

parapsoriasis

Per 100,000 Population

Subtypes: Pityriasis lichenoides et varioliformis acuta; Acute guttate parapsoriasis; Acute parapsoriasis; Acute pityriasis lichenoides; Mucha-Habermann disease; Parapsoriasis acuta; Parapsoriasis lichenoides et varioliformis acuta; Parapsoriasis varioliformis

2009-06-12T22:04:59+00:00

2008-05-21T13:25:32+00:00

Parkinson Disease is a progressive disorder of the nervous system.

591 Parkinson Disease (Genetic Types)

parkinson-disease--genetic-types

15.0

http://www.orpha.net

Per 100,000 Population

PD, Parkinson's Disease

2009-06-04T03:05:27+00:00

2009-06-03T18:37:23+00:00

Paroxysmal Kinesigenic Dyskinesia is a rare neurological disorder characterized by short, recurring attacks of involuntary movement, triggered by sudden voluntary movement.

1393 Paroxysmal Kinesigenic Dyskinesia

paroxysmal-kinesigenic-dyskinesia

Per 100,000 Population

familial PKD

2009-06-03T19:12:44+00:00

2008-05-21T13:25:34+00:00

Paroxysmal nocturnal hemoglobinuria is a rare blood disorder characterized by anemia due to destruction of red blood cells in the bloodstream, red urine, and thrombosis.

919 Paroxysmal Nocturnal Hemoglobinuria

paroxysmal-nocturnal-hemoglobinuria

0.55

http://www.orpha.net

Per 100,000 Population

PNH, Marchiafava-Micheli Syndrome

2008-10-05T20:36:11+00:00

2008-05-21T13:25:33+00:00

Parsonage-Turner Syndrome is a rare disorder affecting the motor neurons of nerves that conduct signals from the spine to the shoulder, arm, and hand.

viral infection, bacterial infection, parasitic infestation, surgery, trauma, vaccinations, childbirth, systemic illness

763 Parsonage-Turner Syndrome

parsonage-turner-syndrome

3.3

http://www.orpha.net

Per 100,000 Population

PTS, Brachial Plexus Neuritis, Neuralgic Amyotrophy, Parsonage Turner Syndrome

2009-08-07T03:23:18+00:00

2008-05-21T13:25:35+00:00

Pelizaeus-Merzbacher Disease is a rare central nervous system disorder in which coordination, motor abilities, and intellectual function are impaired.

There is no cure for PMD, nor is there a standard course of treatment.

970 Pelizaeus-Merzbacher Disease

pelizaeus-merzbacher-disease

0.25

http://www.orpha.net

Per 100,000 Population

PMD, Leukodystrophy, Pelizaeus Merzbacher Disease

2009-08-07T03:25:15+00:00

What causes pemphigus vulgaris? PV is an auto-immune disease. The immune system normally makes antibodies to attack bacteria, viruses. and other ‘germs’. In people with auto-immune diseases, the immune system also makes antibodies against a part of the body. In people with PV, antibodies are made against a protein that binds the skin cells together. This antibody attack ‘dissolves’ the binding between some skin cells and causes the cells to separate from each other. Fluid builds up between the separated cells and forms blisters. It is not known why PV and other auto-immune diseases occur. It is thought that something triggers the immune system to attack the body’s own tissues. Possible triggers include viruses, infection, or other environmental factors. There may be an inherited factor which makes some people more prone to develop auto-immune diseases.

2008-05-21T13:25:33+00:00

Pemphigus Vulgaris is a rare autoimmune skin disease that causes blisters. Most cases can be controlled with treatment, which consists of steroid medicines and other medicines to suppress the immune system.

748 Pemphigus Vulgaris

pemphigus-vulgaris

3.8

http://www.orpha.net

Per 100,000 Population

Subtype of: Pemphigoid

2010-02-09T16:18:06+00:00