Symptoma

Cardiocranial Syndrome Type Pfeiffer

Pfeiffer-Singer-Zschiesche Syndrome

The purposes of this report are to present a fourth patient with features of the Pfeiffer-type cardiocranial syndrome, to expand the clinical phenotype of this condition, and to present evidence that supports the concept that this phenotype represents [ncbi.nlm.nih.gov]

The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]

  • Developmental Delay

    Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual development, Delayed milestones, Psychomotor development deficiency, Developmental [rarediseases.oscar.ncsu.edu]

    There wasminimaldorsilumbar scoliosis and anemia (hemoglobin, 10.7 g/dl).Our patient has sagittal craniosynostosis with ventriculardilatation, ventricular septal defect, postnatal growth failure,developmental delay, and renal agenesisfindings suggestiveof [vdocuments.mx]

    There wasminimaldorsilumbar scoliosis and anemia (hemoglobin, 10.7 g/dl).Our patient has sagittal craniosynostosis with ventricular dilatation, ventricular septal defect, postnatal growth failure,developmental delay, and renal agenesisfindings suggestiveof [docslide.net]

    delay (growth retardation and intellectual deficit).Clinical descriptionGenital and renal anomalies, and various dysmorphic features (hypertelorism, low set ears, dysplastic ears, micrognathia, mandibular ankylosis, syndactyly) may be present. [malacards.org]

    LISSENCEPHALY, X-LINKED, 1; LISX1 Is also known as xlis, lissencephaly and agenesis of corpus callosum Related symptoms: Intellectual disability Seizures Global developmental delay Microcephaly Ataxia SOURCES: OMIM MONDO More info about LISSENCEPHALY, [mendelian.co]

  • Poor Growth

    Growth delay Growth deficiency, Delayed growth, Growth retardation, Growth failure, Retarded growth, Very poor growth [more] A deficiency or slowing down of growth pre- and postnatally. [rarediseases.oscar.ncsu.edu]

    growth Retarded growth [ more ] 0001510 Microphallus 0030260 Trismus Lockjaw 0000211 Showing of 38 Last updated: 3/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. [rarediseases.info.nih.gov]

  • Malnutrition

    […] deficiency Prolymphocytic leukemia Properdin deficiency Prosencephaly cerebellar dysgenesis Prostaglandin antenatal infection Prostate cancer, familial Prostatic malacoplakia associated with prostatic abscess Prostatitis Protein C deficiency Protein-energy malnutrition [bionity.com]

    Prolymphocytic leukemia Properdin deficiency Prosencephaly cerebellar dysgenesis Prosopamnesia Prostaglandin antenatal infection Prostate cancer, familial Prostatic malacoplakia associated with prostatic abscess Prostatitis Protein C deficiency Protein–energy malnutrition [sosu.us]

  • Ankylosis

    All three patients shared features that included growth and developmental retardation, sagittal synostosis, hypertelorism, low set ears, micrognathia with mandibular ankylosis, congenital heart defects, and genital anomalies. [ncbi.nlm.nih.gov]

    […] with suspected mendelian basis notation 218450 OMIM Entry Type 0 OMIM MimType Value none prefLabel CRANIOSTENOSIS, SAGITTAL, WITH CONGENITAL HEART DISEASE, MENTAL DEFICIENCY, AND MANDIBULAR ANKYLOSIS tui T047 [bioportal.bioontology.org]

    To the Editor:Pfeiffer type cardiocranial syndrome is a rare craniosynos-tosis syndrome, which includes sagittal synostosis, congenitalheart defects, micrognathia, mandibular ankylosis, growthdeficiency, developmental retardation, microphallus, crypt-orchidism [vdocuments.mx]

  • Foot Deformity

    Source MeSH Abnormalities, Multiple Adult Craniosynostoses Cryptorchidism Diseases in Twins Female Foot Deformities, Congenital Hand Deformities, Congenital Heart Defects, Congenital Humans Infant, Newborn Intellectual Disability Male Twins, Dizygotic [unboundmedicine.com]

    […] telangiectatica congenita Chondrocalcinosis 2 Plagiocephaly and X-linked mental retardation Paroxysmal nocturnal hemoglobinuria Osteopetrosis autosomal recessive 3 Complement component 2 deficiency Loeys-Dietz syndrome type 4 CHARGE syndrome Hand and foot [checkrare.com]

  • Low Set Ears

    All three patients shared features that included growth and developmental retardation, sagittal synostosis, hypertelorism, low set ears, micrognathia with mandibular ankylosis, congenital heart defects, and genital anomalies. [ncbi.nlm.nih.gov]

    A patient is described with features of this condition including sagittal suture synostosis, growth retardation, learning difficulties, hypertelorism, low-set ears, micrognathia, congenital heart defects and genital anomalies. [journals.lww.com]

  • Suggestibility

    The craniosynostosis was present in only one of the sibs, suggesting intrafamilial variability of the syndrome. [ncbi.nlm.nih.gov]

    The aetiology of this condition remains unknown although an autosomal recessive pattern of inheritance has been suggested following the description of sib pairs. [journals.lww.com]

    We report a male patient with over-lapping features of both syndromes and suggest that thetwo syndromes may be variable manifestations of a singledisorder.The propositus is the second child of nonconsanguineousparents, aged 30 (mother) and 35 (father) [vdocuments.mx]

    We report a male patient with over-lapping features of both syndromes and suggest that thetwo syndromes may be variable manifestations of a singledisorder.The propositus is the second child of nonconsanguineous parents, aged 30 (mother) and 35 (father [docslide.net]

  • Microphallus

    Additional findings not re- lated to the abnormal head growth include micrognathia with limited mouth opening, tracheobronchial anomalies, congenital heart defects, microphallus, cryptorchidism, and growth and mental retardation. [docslide.us]

    To the Editor:Pfeiffer type cardiocranial syndrome is a rare craniosynos-tosis syndrome, which includes sagittal synostosis, congenitalheart defects, micrognathia, mandibular ankylosis, growthdeficiency, developmental retardation, microphallus, crypt-orchidism [vdocuments.mx]

    To the Editor: Pfeiffer type cardiocranial syndrome is a rare craniosynos-tosis syndrome, which includes sagittal synostosis, congenitalheart defects, micrognathia, mandibular ankylosis, growthdeficiency, developmental retardation, microphallus, crypt-orchidism [docslide.net]

    In addition to craniosynostosis involving the sagittal suture, micrognathia with limited mouth opening, tracheobronchial anomalies, congenital heart defects, microphallus, cryptorchidism, and growth and mental retardation were features. [omim.org]

    […] tracheobronchial morphology 0005607 Abnormality of cardiovascular system morphology 0030680 Autosomal recessive inheritance 0000007 Growth delay Delayed growth Growth deficiency Growth failure Growth retardation Poor growth Retarded growth [ more ] 0001510 Microphallus [rarediseases.info.nih.gov]

  • Learning Difficulties

    A patient is described with features of this condition including sagittal suture synostosis, growth retardation, learning difficulties, hypertelorism, low-set ears, micrognathia, congenital heart defects and genital anomalies. [ncbi.nlm.nih.gov]

    Testicular self-examination: the person with learning difficulties. Br J Nurs, 16, 931 –5. Pedersen, A. M. and Skovby, F. ( 2007 ). Molecular diagnosis of CHARGE syndrome. Ugeskr Laeg, 169, 402 –6. Pela, I., Donati, M. [cambridge.org]

Preoperative blood workup should include a complete blood count, electrolytes, creatinine, and BUN. [accessanesthesiology.mhmedical.com]

The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]

In parallel with the increase in basic biological understanding, advances in clinical diagnosis and treatment have been achieved including improved prenatal imaging technology and craniofacial surgical techniques as well as condition-specific care in [books.google.com]

Standard Therapies Treatment The treatment of Pfeiffer syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

Part II - Notes about surgical treatment of Pfeiffer syndrome and other craniofacial stenosis types. [wwe.eurekamag.com]

Management and treatment Management depends on the cardinal manifestations and includes surgery for cranial decompression. Supportive measures should be offered. [rarediseases.info.nih.gov]

Type I has a relatively good prognosis for intellectual outcome. [dokumen.tips]

The prognosis for favorable neurodevelopmental outcome and/or life expectancy remains guarded in most cases. [einstein.pure.elsevier.com]

The common co-existence of hydrocephalus and multiple premature sutural fusion in Pfeiffer syndrome is a further factor in the apparently worse prognosis of this condition when compared to Crouzon and Apert syndrome. [scinapse.io]

Favorable prognosis for children with Pfeiffer syndrome types 2 and 3: implications for classification. Am J Med Genet. 1998;75:240-4. Tartaglia M, Di Rocco C, Lajeunie E, Valeri S, Velardi F, Battaglia PA. [rarediseases.org]

In the last two decades increased knowledge about the structure and function of the human genome has enabled the discovery of the molecular etiologies of most forms of syndromic craniosynostosis, which in turn has allowed for the analysis of normal and [books.google.com]

Joint and palpebral abnormalities may also occur.EtiologyThe etiology remains unknown. The occurrence of the syndrome in a brother-sister sibship supports the hypothesis of autosomal recessive inheritance. [malacards.org]

Etiology The etiology remains unknown. The occurrence of the syndrome in a brother-sister sibship supports the hypothesis of autosomal recessive inheritance. [rarediseases.info.nih.gov]

View Article Download full-text PDF Source DOI Listing November 2005 Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. [pubfacts.com]

Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology [ispub.com]

Fraser syndrome: frequency in our environment and clinical-epidemiological aspects of a consecutive series of cases. An Esp Pediatr, 48, 634 –8. Mccandless, A. and Walker, S. ( 1976 ). D13 ring chromosome syndrome. Arch Dis Child, 51 (6), 449 –53. [cambridge.org]

La Pediatria Medica E Chirurgica 4(4): 459-466, 1982 Internal hydrocephalus, external hydrocephalus, and the syndrome of intracerebral cerebrospinal fluid entrapment: a challenge to current theories on the pathophysiology of communicating hydrocephalus [wwe.eurekamag.com]

And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]

Kallmann syndrome (KS) is a genetic disorder that prevents a person from starting or fully completing puberty. Kallmann syndrome is a form of a group of conditions termed hypogonadotropic hypogonadism. [when.com]

This early fusion prevents the skull from growing normally and affects the shape of the head and face. Pfeiffer syndrome also affects bones in the hands and feet. [ghr.nlm.nih.gov]

Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention [ispub.com]