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  2. Pfeiffer syndrome - Wikipedia

    en.wikipedia.org/wiki/Pfeiffer_syndrome

    There are three main types of Pfeiffer syndrome: type I is the mildest and most common; type II is the most severe, with neurological problems and a cloverleaf deformity; and type III is similar to type II, but without the cloverleaf deformity.

  3. Cardiocranial syndrome, Pfeiffer type - Wikipedia

    en.wikipedia.org/wiki/Cardiocranial_syndrome...

    Cardiocranial syndrome, Pfeiffer type is a rare multiple disorder syndrome characterized by congenital heart defects, sagittal craniosynostosis, and severe developmental delay. The condition has been reported in less than 10 patients worldwide. Signs and symptoms. Features of this condition include: Abnormal heart morphology

  4. Acrocephalosyndactyly - Wikipedia

    en.wikipedia.org/wiki/Acrocephalosyndactyly

    type I – Apert syndrome; type II – Crouzon syndrome; type III – Saethre–Chotzen syndrome. Robinow-Sorauf syndrome suggested to be included in Saethre-Chotzen classification ; type IV – Mohr syndrome (archaic) type V – Pfeiffer syndrome. Noack syndrome incorporated into Pfeiffer syndrome classification

  5. Infectious mononucleosis - Wikipedia

    en.wikipedia.org/wiki/Infectious_mononucleosis

    Glandular fever, Pfeiffer's disease, Filatov's disease, kissing disease: Swollen lymph nodes in the neck of a person with infectious mononucleosis: Specialty: Infectious disease: Symptoms: Fever, sore throat, enlarged lymph nodes in the neck, fatigue: Complications: Swelling of the liver or spleen: Duration: 2–4 weeks: Causes

  6. Waardenburg syndrome - Wikipedia

    en.wikipedia.org/wiki/Waardenburg_syndrome

    Woman with Waardenburg syndrome type 2, showing heterochromia and white forelock. The difference that defines type 2 from type 1 is that patients do not have the wider gap between the inner corners of the eyes (telecanthus/dystopia canthorum). Sensorineural hearing loss tends to be more common and more severe in this type.

  7. Crouzon syndrome - Wikipedia

    en.wikipedia.org/wiki/Crouzon_syndrome

    Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Because the branchial arches are important developmental features in a growing embryo, disturbances in their development ...

  8. Marfan syndrome - Wikipedia

    en.wikipedia.org/wiki/Marfan_syndrome

    Marfan syndrome; Other names: Marfan's syndrome: Ectopia lentis in Marfan syndrome: Zonular fibers are seen. Specialty: Medical genetics: Symptoms: Tall thin build; long arms, legs and fingers; flexible fingers and toes: Complications: Scoliosis, mitral valve prolapse, aortic aneurysm: Duration: Long term: Causes: Genetic (autosomal dominant ...

  9. Carpenter syndrome - Wikipedia

    en.wikipedia.org/wiki/Carpenter_syndrome

    Carpenter syndrome, also called acrocephalopolysyndactyly type II, is an extremely rare autosomal recessive congenital disorder characterized by craniofacial malformations, obesity, syndactyly, and polydactyly. Acrocephalopolysyndactyly is a variation of acrocephalosyndactyly that presents with polydactyly.

  10. Autoimmune polyendocrine syndrome type 2 - Wikipedia

    en.wikipedia.org/wiki/Autoimmune_polyendocrine...

    Signs and symptoms. Signs and symptoms that are consistent in an individual affected with autoimmune polyendocrine syndrome type 2 are the following: Hashimoto thyroiditis. Nausea; Frequent urination; Palpitations; Weight loss; Anorexia; Low blood pressure; Hypoparathyroidism; Myalgias; Hashimoto thyroiditis; Graves' disease; Anaemia; Hypogonadism

  11. Antley–Bixler syndrome - Wikipedia

    en.wikipedia.org/wiki/Antley–Bixler_syndrome

    Trapezoidocephaly-synostosis syndrome, [1] Antley–Bixler syndrome has an autosomal recessive pattern of inheritance. Specialty. Medical genetics. Antley–Bixler syndrome is a rare, severe autosomal recessive [2] congenital disorder characterized by malformations and deformities affecting the majority of the skeleton and other areas of the ...