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]

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, 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]

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]

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]

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]

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]

[…] 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]

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]

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, 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]

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]

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]

[…] 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]

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]

74824007 ] [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]

[…] 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]

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]

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]

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]

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 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]

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]

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]

[…] 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]

[…] 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]

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]

[…] 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]