Presentation
It is our ambition to present a complete survey of all medical phenomena named for a person, with a biography of that person. Disclaimer: Whonamedit? does not give medical advice. [whonamedit.com]
They have a core of connective tissue, foliate papillae are short vertical folds and are present on each side of the tongue. [wikivisually.com]
Two cases of palmar petechiae as a presentation of dermatitis herpetiformis. Clin Exp Dermatol. 2010;35(2):206–208. 19. Heinlin J, Knoppke B, Kohl E, Landthaler M, Karrer S. Dermatitis herpetiformis presenting as digital petechiae. [dovepress.com]
ORPHA:2871 Synonym(s): - Prevalence: Inheritance: - Age of onset: Neonatal ICD-10: Q87.1 OMIM: 261560 UMLS: C1849929 MeSH: C537889 GARD: 4305 MedDRA: - The documents contained in this web site are presented for information purposes only. [orpha.net]
Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. [mendelian.co]
Entire Body System
- Gangrene
Pott's gangrene info... Pott's paraplegia info... Pott's puffy tumour info... Pott's syndrome I info... Pott's syndrome II info... Pott's syndrome III info... Poupart's inguinal ligament info... Poupart's ligament info... [mt911.com]
- Pel Ebstein Fever
Pel-Ebstein fever info... Pel-Ebstein fever info... Pelizaeus-Merzbacher disease info... Pellegrini's disease info... Pellegrini's syndrome info... Pellegrini-Stieda disease info... Pellizzari-Jadassohn syndrome info... Pel's crises info... [mt911.com]
Respiratoric
- High Pitched Voice
Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures [monarchinitiative.org]
About Library Blog FAQ Testimonials Rare Charities Press Contact Search the Library Other Names: PPT syndrome, Short stature unique facies enamel hypoplasia progressive joint stiffness and high-pitched voice See more Don’t fight Pfeiffer Palm Teller syndrome [rareguru.com]
A syndrome of short stature, amimic facies, enamel hypoplasia, slowly progressive stiffness of the joints, and high-pitched voice in two siblings. J. Pediat. 91: 955-957, 1977. [omim.org]
Teller: A syndrome of short stature, amimic facies, enamel hypoplasia, slowly progressing stiffness of the joints and high-pitched voice in two siblings. Journal of Pediatrics, St. Louis, 1977, 91: 955-957. [whonamedit.com]
- Rhinitis
[…] eyelids * Epicanthal folds * Lack of facial expression * Increased muscle tone * Underdeveloped tooth enamel * Short stature * Progressive joint stiffness * Congenital aortic stenosis Causes - Pfeiffer Palm Teller syndrome Acute (2 weeks) * Allergic rhinitis [checkorphan.org]
Gastrointestinal
- Polydipsia
[…] perineoscrotal hypospadias * Pseudoxanthoma elasticum, dominant form * Pseudoxanthoma elasticum, recessive form * Pseudoxanthoma elasticum * Pseudo-Zellweger syndrome Psi-Psy * Psittacosis * Psoriasis * Psoriatic arthritis * Psoriatic rheumatism * Psychogenic polydipsia [en.academic.ru]
Pseudovaginal perineoscrotal hypospadias Pseudoxanthoma elasticum, dominant form Pseudoxanthoma elasticum, recessive form Pseudoxanthoma elasticum Pseudo-Zellweger syndrome Psi-Psy Psittacosis Psoriasis Psoriatic arthritis Psoriatic rheumatism Psychogenic polydipsia [ssf.f15ijp.com]
Ears
- Cup-Shaped Ears
Cupped ear Capuchin ears, Simple, cup-shaped ears, Cup-shaped ears [more] Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura). [rarediseases.oscar.ncsu.edu]
Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures [monarchinitiative.org]
Orpha Number: 2871 Definition Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears [rareguru.com]
ear Cup-shaped ears Simple, cup-shaped ears [ more ] 0000378 Narrow palpebral fissure Small opening between the eyelids 0045025 Showing of 12 | Last updated: 2/1/2021 Find a Specialist Find a Specialist If you need medical advice, you can look for doctors [rarediseases.info.nih.gov]
Eyes
- Small Palpebral Fissures
Narrow palpebral fissure Small opening between the eyelids, Decreased size of palpebral fissure, Narrow eyelid opening, Small palpebral fissures [more] Reduction in the vertical distance between the upper and lower eyelids. [rarediseases.oscar.ncsu.edu]
- Parinaud Conjunctivitis
Parinaud conjunctivitis info... Parinaud conjunctivoadenitis info... Parinaud-Koerber-Salus-Elschnig syndrome info... Parinaud's conjunctiva adenitis info... Parinaud's disease info... Parinaud's oculoglandular syndrome info... [mt911.com]
Musculoskeletal
- Arthralgia
[…] ankylosis + Arthralgia + arthritis + Arthrogryposis + arthropathy + articular cartilage disease + AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE Behcet's syndrome arthropathy Bleeding Disorder Due To P2rx1 Defect Blood Loss, Surgical Brachydactylous [rgd.mcw.edu]
[…] encyclopedia of medical concepts More information in Books or on Definition : GEN; prefer specifics; inflamm dis Examples Ankylosis ; Arthralgia ; Arthritis ; Arthrogryposis ; Arthropathy, Neurogenic ; Bursitis ; Chondromatosis, Synovial ; Contracture [reference.md]
[…] crowding Depressivity Gait disturbance Ataxia Narrow face Wide intermamillary distance Severe short stature Joint hypermobility Optic atrophy Radioulnar synostosis Atrioventricular canal defect Duodenal atresia Sleep apnea Cutis laxa Abdominal pain Arthralgia [mendelian.co]
- Phalen's Sign
Phalen's manoeuvre info... Phalen's position info... Phalen's position info... Phalen's sign info... Phalen's test info... Phelps' operation info... Phelps' therapy info... Phelps-Kirmisson operation info... Phénomène de Bail (French) info... [mt911.com]
Face, Head & Neck
- Narrow Face
face Wide intermamillary distance Severe short stature Joint hypermobility Optic atrophy Radioulnar synostosis Atrioventricular canal defect Duodenal atresia Sleep apnea Cutis laxa Abdominal pain Arthralgia Proteinuria Glaucoma Protruding ear Absent [mendelian.co]
Treatment
Full title Pfeiffer-Palm-Teller syndrome Name in a foreign language - CONTENT INFORMATION Textual description Etiology Forecast Differential diagnosis Treatment Diagnostic methods Antenatal diagnosis Epidemiology Genetic counseling Therapy Clinical research [retkebolesti.com]
Treatment - Pfeiffer Palm Teller syndrome * Evaluate airway, breathing, and circulation * Trauma/obstruction: Cricothyrotomy or tracheostomy may be necessary to establish an airway * Infections: Symptomatic measures (e.g., hydration, cough suppression [checkorphan.org]
Treatment As previously stated, DH is considered the specific cutaneous manifestation of CD; therefore, a lifelong gluten-free diet is the first-choice treatment of the disease. [dovepress.com]
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]
Treatment is supportive and often includes surgery in the earliest years of life to correct deformities of the skull and respiratory function. [amp.en.google-info.in]
Prognosis
Prognosis - Pfeiffer Palm Teller syndrome Not supplied. [checkorphan.org]
This type occurs sporadically (i.e., does not appear to be inherited) and has "a poor prognosis and severe neurological compromise, generally with early death." [en.wikipedia.org]
Diagnosis, management, and prognosis. J Am Acad Dermatol. 2011; 64(6):1027–1033. 79. McFadden JP, Leonard JN, Powles AV, Rutman AJ, Fry L. Sulphamethoxypyridazine for dermatitis herpetiformis, linear IgA disease and cicatricial pemphigoid. [dovepress.com]
Etiology
pioglitazone, aerosolized steroids), postsurgical recurrent laryngeal nerve damage with vocal cord paralysis, radiation therapy * Neurologic: Multiple sclerosis, amyotrophic lateral sclerosis, Parkinson\'s disease, muscular dystrophy * Less common etiologies [checkorphan.org]
Full title Pfeiffer-Palm-Teller syndrome Name in a foreign language - CONTENT INFORMATION Textual description Etiology Forecast Differential diagnosis Treatment Diagnostic methods Antenatal diagnosis Epidemiology Genetic counseling Therapy Clinical research [retkebolesti.com]
Epidemiology
Full title Pfeiffer-Palm-Teller syndrome Name in a foreign language - CONTENT INFORMATION Textual description Etiology Forecast Differential diagnosis Treatment Diagnostic methods Antenatal diagnosis Epidemiology Genetic counseling Therapy Clinical research [retkebolesti.com]
The authors information that epidemiological studies enjoy reported a strong link between shaky testosterone levels and avoirdupois, IR, and an unfavorable lipids vignette: there is a outrageous ubiquity of hypogonadism mid men with metabolic syndrome [nhha.org]
Prevention
[…] sclerosis, amyotrophic lateral sclerosis, Parkinson\'s disease, muscular dystrophy * Less common etiologies (“zebras”) include hemorrhage into vocal folds, psychogenic (laryngeal conversion disorders), rheumatoid arthritis, sarcoidosis, and amyloidosis Prevention [checkorphan.org]
This fusion prevents the skull from growing normally and affects the shape of the head. Pfeiffer Syndrome also affects bones in the hands and feet and is associated with radiohumeral synostosis of the elbow. [paleyinstitute.org]
Pulmonary Persistent Pulmonary Hypertension Of The Newborn PPI Cardiac Cardio And Heart Post [cardiac] Pacing Interval PPIG Organizations Journals And Periodicals Psychology Of Programming Interest Group PPIP Organizations Journals And Periodicals Put Prevention [medicabbreviations.com]
[…] of beta-galactosidase PPGF polypeptide growth factor PPGP prepaid group practice ppGpp 3´-pyrophosphoryl-guanosine-5´-diphosphate PPH past pertinent history; persistent pulmonary hypertension; phosphopyruvate hydratase; postpartum hemorrhage; primary prevention [health.am]
Moreover, although further evidences are required, a gluten-free diet might be helpful even in the prevention of the occurrence of DH/CD-related autoimmune disorders. [dovepress.com]