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Pfeiffer-Palm-Teller Syndrome


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]
Short Stature
  • 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]
  • Teller A syndrome of short stature, unique amimic facies, ears cup-shaped, narrow palpebral fissures with epicanthal folds, enamel hypoplasia, slowly progressing stiffness of the joints and high-pitched voice. Aetiology unknown.[whonamedit.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]
  • Title Other Names: PPT syndrome; Short stature unique facies enamel hypoplasia progressive joint stiffness and high-pitched voice Categories: The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan[rarediseases.info.nih.gov]
  • stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit.Visit the Orphanet disease page for more resources.[malacards.org]
Amyloidosis
  • Multiple 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[checkorphan.org]
  • Portuguese type amyloidosis[?] Positive rheumatoid factor polyarthritis[?] Post Polio syndrome[?] Post Traumatic Stress disorder (PTSD)[?] Post Traumatic Stress disorder[?] Postaxial polydactyly mental retardation[?][encyclopedia.kids.net.au]
  • Prieur Griscelli syndrome Primary agammaglobulinemia Primary aldosteronism Primary alveolar hypoventilation Primary amenorrhea Primary biliary cirrhosis Primary ciliary dyskinesia, 2 Primary ciliary dyskinesia Primary craniosynostosis Primary cutaneous amyloidosis[bioreference.net]
  • […] acute intermittent * Porphyria, Ala-D * Porphyria, congenital erythropoietic * Porphyria, hereditary coproporphyria * Portal hypertension due to infrahepatic block * Portal hypertension * Portal thrombosis * Portal vein thrombosis * Portuguese type amyloidosis[en.academic.ru]
  • […] tarda Porphyria, acute intermittent Porphyria, Ala-D Porphyria, congenital erythropoietic Porphyria, hereditary coproporphyria Portal hypertension due to infrahepatic block Portal hypertension Portal thrombosis Portal vein thrombosis Portuguese type amyloidosis[ssf.f15ijp.com]
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]
  • Teller A syndrome of short stature, unique amimic facies, ears cup-shaped, narrow palpebral fissures with epicanthal folds, enamel hypoplasia, slowly progressing stiffness of the joints and high-pitched voice. Aetiology unknown.[whonamedit.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]
  • Title Other Names: PPT syndrome; Short stature unique facies enamel hypoplasia progressive joint stiffness and high-pitched voice Categories: The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan[rarediseases.info.nih.gov]
  • […] diseases and orphan drugs.Orpha Number: 2871Disease definitionPfeiffer-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[malacards.org]
Cough
  • ., hydration, cough suppression, decongestants), antibiotics, voice rest, surgery for abscess * Vocal abuse: Voice rest (whispering is not voice rest); if speaking is absolutely necessary, oral steroids may be used; voice therapy may be necessary in chronic[checkorphan.org]
  • In the postoperative patch, patients may start with drinking as promptly as they are incite sufficiency to do so safely, and when all coughing and swallowing reflexes hold recov- ered.[nhha.org]
  • Bifid scrotum Horseshoe kidney Stereotypy Anosmia Recurrent upper respiratory tract infections Abnormality of the urinary system Cardiac arrest Dandy-Walker malformation Limb dystonia Cerebellar vermis hypoplasia Shallow orbits Pulmonary hypoplasia Cough[mendelian.co]
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]
Epicanthal Folds
  • The palpebral fissures were narrow, with epicanthal folds. REFERENCES Pfeiffer, R. A., Palm, D., Teller, W.[omim.org]
  • folds, and intellectual deficit.[monarchinitiative.org]
  • Teller A syndrome of short stature, unique amimic facies, ears cup-shaped, narrow palpebral fissures with epicanthal folds, enamel hypoplasia, slowly progressing stiffness of the joints and high-pitched voice. Aetiology unknown.[whonamedit.com]
  • folds, and intellectual deficit.Visit the Orphanet disease page for more resources.[malacards.org]
  • Symptoms - Pfeiffer Palm Teller syndrome * Amimic facies * Cupped ears * High-pitched voice * Narrow space between eyelids * Epicanthal folds * Lack of facial expression * Increased muscle tone * Underdeveloped tooth enamel * Short stature * Progressive[checkorphan.org]
Cup-Shaped Ears
  • ears Simple, cup-shaped ears [ more ] 0000378 Narrow palpebral fissure Small opening between the eyelids 0045025 Showing of 12 Last updated: 5/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals who have experience[rarediseases.info.nih.gov]
  • 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]
  • […] drugs.Orpha Number: 2871Disease definitionPfeiffer-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[malacards.org]
  • ] [UMLS: C0229249 , C0678230 HPO: HP:0000286 ] [HPO: HP:0000286 UMLS: C0678230 ] - Enamel hypoplasia [SNOMEDCT: 26597004 , 699421005 , 699382004 ] [UMLS: C0011351 HPO: HP:0006297 ] [HPO: HP:0006297 UMLS: C0011351 , C1851854 , C4280456 , C4280457 ] - Cup-shaped[omim.org]
  • Pfeiffer-Palm-Teller syndrome Disease 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[orpha.net]
Ear Deformity
  • Showing of 12 30%-79% of people have these symptoms Bilateral external ear deformity 0040111 Blepharophimosis Narrow opening between the eyelids 0000581 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 High pitched voice 0001620 Hypoplasia of[rarediseases.info.nih.gov]
Skeletal Dysplasia
  • dysplasia brachydactyly Skeletal dysplasia epilepsy short stature Skeletal dysplasia orofacial anomalies Skeletal dysplasia San diego type Skeletal dysplasias Skeleto cardiac syndrome with thrombocytopenia Sketetal dysplasia coarse facies mental retardation[sosu.us]
  • dysplasia Torrance type Pleoconial myopathy with salt craving Pleomorphic malignant fibrous histiocytoma Pleomorphic xanthoastrocytoma Pleuropulmonary blastoma Plexosarcoma Plummer Vinson syndrome Pneumocystic carinii pneumonia Pneumocystosis Pneumonia[personalizedcause.com]
  • Jequier Kozlowski skeletal dysplasia 0 *Abnormalities, Multiple *Arthrogryposis *Osteochondrodysplasias *Craniofacial Abnormalities. Jarcho- Levin syndrome 0 *Abnormalities, Multiple *Heart Defects, Congenital *Hernia, Diaphragmatic.[reference.md]
  • dysplasia-epilepsy-short stature syndrome Slender bone dysplasia Smith-Fineman-Myers syndrome Smith-Lemli-Opitz syndrome Smith-Magenis syndrome Smith-McCort dysplasia Solitary median maxillary central incisor syndrome Spastic ataxia-corneal dystrophy[se-atlas.de]
  • dysplasia Sebaceous gland hyperplasia, familial presenile Pentosuria Xanthinuria type 2 Renal hypomagnesemia-6 Deafness, autosomal dominant nonsyndromic sensorineural 3 Hypertrichosis lanuginosa congenita Gestational trophoblastic tumor Multiple endocrine[checkrare.com]
Joint Stiffness
  • 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]
  • PFEIFFER-PALM-TELLER SYNDROME Alternative titles; symbols PPT SYNDROME SHORT STATURE, UNIQUE FACIES, ENAMEL HYPOPLASIA, PROGRESSIVE JOINT STIFFNESS, AND HIGH-PITCHED VOICE Joints - Progressive joint stiffness HEENT - Narrow palpebral fissures [ICD10CM[omim.org]
  • Related phenotypes are intellectual disability and joint stiffness[malacards.org]
  • stiffness Stiff joint Stiff joints [ more ] 0001387 Short stature Decreased body height Small stature [ more ] 0004322 Percent of people who have these symptoms is not available through HPO Aortic valve stenosis Narrowing of aortic valve 0001650 Autosomal[rarediseases.info.nih.gov]
  • Overview Pfeiffer-Palm-Teller syndrome: A rare disorder characterized by facial peculiarities, defective tooth enamel and progressive joint stiffness.[checkorphan.org]
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 Dwarfism[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]
Decrease in Height
  • […] body height Small stature [ more ] 0004322 Percent of people who have these symptoms is not available through HPO Aortic valve stenosis Narrowing of aortic valve 0001650 Autosomal recessive inheritance 0000007 Cupped ear Cup-shaped ears Simple, cup-shaped[rarediseases.info.nih.gov]
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]
Irritability
  • 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 * Irritants[checkorphan.org]
  • Syndromes Necrotizing vasculitis Complete blood count Poor feeding or irritability in children Use the shower chair Loss of purposeful hand movements; for example, the grasp used to pick up small objects is replaced by repetitive hand motions like hand[nhha.org]
  • Tremor Dysarthria Hyperreflexia Rough bone trabeculation Visual impairment Megakaryocyte dysplasia Bilateral camptodactyly Congenital thrombocytopenia Macular hypoplasia Annular pancreas Abnormality of the head Developmental regression Autistic behavior Irritability[mendelian.co]
  • Rain Man will either captivate you or irritate you (Raymond's sputtering of repetitious phrases is enough to drive anyone crazy), but it is obviously a labor of love for those involved.[jm-ingles.forosactivos.net]
  • When your brain is stressed and anxious, you have trembling, twitching, palpitations, irritable bowel syndrome, loss of sex drive, chronic fatigue. These are the warning signs of the worn-out brain. And he's absolutely right.[hghwatch.com]

Workup

Polyps
  • […] aortic stenosis Causes - Pfeiffer Palm Teller syndrome Acute (2 weeks) * Allergic rhinitis * Irritants: Tobacco smoke, occupational * GERD * Chronic sinusitis * Endocrine: Puberty, menopause, hypothyroidism * Foreign body * Aging * Vocal cord problems: Polyps[checkorphan.org]
  • […] macular degeneration * Polymorphous low-grade adenocarcinoma * Polymyalgia rheumatica * Polymyositis * Polyneuritis * Polyneuropathy hand defect * Polyneuropathy mental retardation acromicria prema * Polyomavirus Infections * Polyostotic fibrous dysplasia Polyp-Polys[en.academic.ru]
  • Polymorphic macular degeneration Polymorphous low-grade adenocarcinoma Polymyalgia rheumatica Polymyositis Polyneuritis Polyneuropathy hand defect Polyneuropathy mental retardation acromicria prema Polyomavirus Infections Polyostotic fibrous dysplasia Polyp-Polys[ssf.f15ijp.com]
  • Polyposis of Gastric Fundus without Polyposis Coli OMIM:175500 Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes OMIM:601228 Polyposis Syndrome, Hereditary Mixed, 1; HMPS1 OMIM:610069 Polyposis Syndrome, Hereditary Mixed, 2; HMPS2 OMIM:175510 Polyps[informatics.jax.org]

Treatment

  • 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]
  • 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 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]
  • People are more probably to essay treatment after themselves during depressive phases than during manic phases.[nhha.org]

Prognosis

  • Prognosis - Pfeiffer Palm Teller syndrome Not supplied.[checkorphan.org]
  • ., 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]

Epidemiology

  • 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]
Sex distribution
Age distribution

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]
  • 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]
  • This can be prevented via carefully avoiding any coil of wire (ECG, pulsating oxim- eter wires) and by ensuring that there is no aim acquaintance between these wires and coat.[nhha.org]

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