Typical interface changes are not present. Typical linear or granular deposits of IgG, IgM, and C3 at the dermal-epidermal junction are usually present. [karger.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]

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]

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]

• Short Stature

  GARD: 19 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 [malacards.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]

  Short stature Decreased body height, Height less than 3rd percentile, Small stature, Stature below 3rd percentile [more] A height below that which is expected according to age and gender norms. [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]

• 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]

  […] 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 [wikidoc.org]

  […] 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]

• Surgical Procedure

  Management [ edit ] The key problem is the early fusion of the skull, which can be corrected by a series of surgical procedures, often within the first three months after birth. [en.wikipedia.org]

  The surgical procedures described herein are less invasive and do not require sophisticated techniques. It is important to recognize that the diseases we discussed may be associated with LDH. [misjournal.net]

  Pfeiffer syndrome: Management The key problem is the early fusion of the skull, which can be corrected by a series of surgical procedures, often within the first three months after birth. [maria-online.com]

• Swelling

  Seek medical attention right away if any of these severe side effects occur: Severe allergic reactions (rash; hives; itching; difficulty breathing; tightness in the chest; swelling of the mouth, face, lips, or tongue); chest pain; fainting; fast or irregular [markhome.cz]

• High Pitched Voice

  GARD: 19 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 [malacards.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]

  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]

• Cough

  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]

  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]

  Symptoms include headache; pain in the epigastrium, sinuses, and tooth sockets; itchy skin; vertigo; dyspnea; coughing; nausea; vomiting; and sometimes paralysis. Peripheral circulatory collapse may be present. [entokey.com]

  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]

• 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]

• Cup-Shaped Ears

  GARD: 19 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 [malacards.org]

  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]

  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]

• Joint Stiffness

  joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit. [malacards.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]

  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]

  Joint stiffness Stiff joint Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time. [rarediseases.oscar.ncsu.edu]

• Arthritis

  Contacts/Locations Locations: United States, Arizona Sun Valley Arthritis Center Ltd. [clinicaltrials.gov]

  […] 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]

  […] radiation therapy * Neurologic: 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 [checkorphan.org]

  […] 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]

  Pauciarticular chronic arthritis[?] Pavone Fiumara Rizzo syndrome[?] Peanut Hypersensitivity[?] Pearson's marrow/pancreas syndrome[?] Pediatric T-cell leukemia[?] Peeling skin syndrome ichthyosis[?] PEHO syndrome[?] [encyclopedia.kids.net.au]

• 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]

  Apart from arthralgias, there is no evidence of systemic disease. Histology shows a deep inflammatory infiltrate with perivascular distribution and granular deposits of immunoglobulins and complement along the basement membrane [22]. [karger.com]

  […] 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]

• Severe Short Stature

  short stature mainly to very short legs (mesomelic) Pillay syndrome (opthalmo-mandibulo-melic dwarfism) Ulnar and fibular ray deficiency, blindness, fusion of temporomandibular joints Reinhardt–Pfeiffer mesomelic dysplasia Ulnar and fibular ray deficiency [obgynkey.com]

  Learn more Other less relevant matches: Medium match EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES; EDSSLA This form of Ehlers-Danlos syndrome is characterized by short stature, developmental anomalies of the forearm bones and elbow, and [mendelian.co]

  Overall the best phenotypic match for Patient 3 is with the Carney Complex plus patient [43], who had few overt manifestations of Carney complex but had IUGR, feeding difficulties, global developmental delay (although not as severe), short stature (<1st [journals.plos.org]

• 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]

  Acquired forms are benign and caused by irritating substances. [entokey.com]

  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]

The clinical features of this syndrome are so varied from case to case that only a complete workup can exclude other versions of this syndrome. [entokey.com]

• 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]

  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 [wikidoc.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]

  Bourneville Syndrome Bourneville syndrome is a familial disorder whose symptoms include polyps of the skin, harelip, moles, spina bifida, and microcephaly. [entokey.com]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

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 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 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]

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]

The prognosis depends on when surgery was performed and what pathologies required surgical intervention. [ncbi.nlm.nih.gov]

Thus, studies of palm surface area have been investigated in relation with prognosis and treatment of burns. [oatext.com]

The prognosis is good. The mandible is the most frequently involved site. Caisson Disease This symptom complex occurs in men and women who work in high air pressures and are returned too suddenly to normal atmospheric pressure. [entokey.com]

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]

The etiology is unknown. [entokey.com]

It is important to intraoperatively confirm sufficient decompression by ankle movement because dynamic neuropathy is an important factor in CP-NEN etiology. [misjournal.net]

This suggested that a defect in telomere maintenance could be involved in the etiology of this disease. [journals.plos.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]

It is due to gain-of-function missense mutations of fibroblast growth factor receptor (FGFR2)-2 on chromosome 10q.[2] Epidemiology Apert syndrome is a rare disease and is estimated to occur in 1 in 65,000 to 200,000 births depending on the study cited [ncbi.nlm.nih.gov]

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]

Johnson LG, Madeleine MM, Newcomer LM, Schwartz SM, Daling JR (2004) Anal cancer incidence and survival: the surveillance, epidemiology, and end results experience, 1973–2000. Cancer 101: 281–288. View Article Google Scholar 40. [journals.plos.org]

Objectives: Describe the pathophysiology of Apert syndrome. Review the physical features of Apert syndrome. Outline the treatment and management options available for Apert syndrome. [ncbi.nlm.nih.gov]

[…] 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]

Surgery is required to prevent complete coronal suture closure and protect brain development. [ncbi.nlm.nih.gov]