Symptoma

Acrocephalosyndactyly

Abstract A 38-year-old man presented with an unusual complaint of spontaneous left ocular prolapse, which had occurred while scratching his lower eyelid. [ncbi.nlm.nih.gov]

  • Weakness

    Only weak linkage, not reaching significance, was found with distal markers (D7S513 and afm281vc9) and a proximal marker (D7S516). Multipoint analysis shows that the disease locus lies between D7S513 and D7S516. [ncbi.nlm.nih.gov]

  • Broad Thumb

    thumbs and big toes. [merriam-webster.com]

  • Inflammation

    Laparoscopy at age 25 years revealed chylous ascites with marked chronic peritoneal inflammation, and lymphatic dysplasia with lymphocysts. With hormone manipulation, the chylous ascites fluctuated. [ncbi.nlm.nih.gov]

  • Surgical Procedure

    Hand reconstruction techniques, including specific surgical procedures, the timing of the surgical reconstruction, and postoperative therapy are discussed. [ncbi.nlm.nih.gov]

  • Abdominal Distension

    CASE: A 25-year-old nulligravid woman with acrocephalosyndactyly, at 18 months after menarche, developed persistent abdominal distension at age 18 years. [ncbi.nlm.nih.gov]

  • Heart Disease

    The syndrome consists of acrocephaly, soft tissue syndactyly, brachy‐ or agenesis mesophalangy of the hands and feet, preaxial polydactyly, congenital heart disease, mental retardation, hypogenitalism, obesity, and umbilical hernia. [doi.org]

  • Brachydactyly

    Abstract Acrocephalosyndactyl (ACS) describes a group of diseases with craniofacial anomalies resulting from premature sutural craniosynostosis and hand and foot anomalies consisting principally of brachydactyly, syndactyly, and polydacytly. [ncbi.nlm.nih.gov]

  • Long Arm

    Abstract A partial trisomy of the long arm of chromosome 6 was found in an infant with acrocephalosyndactyly (not Apert acrocephalosyndactyly). The mother had a balanced translocation involving the long arms of chromosomes 6 and 10. [ncbi.nlm.nih.gov]

  • Suggestibility

    Examination of the hands revealed bilateral syndactyly, suggesting a diagnosis of acrocephalosyndactyly. While it is common for eyes to prolapse in childhood in Crouzon or Apert syndrome, it is unusual for them to present in this way in middle age. [ncbi.nlm.nih.gov]

    […] multiple types: type 1 – Noack syndrome; now classified with Pfeiffer syndrome type 2 – Carpenter syndrome type 3 – Sakati-Nyhan-Tisdale syndrome type 4 – Goodman syndrome; now classified with Carpenter syndrome type 5 – Pfeiffer syndromeIt has been suggested [en.wikipedia.org]

    Jones, Differential Expression of Fibroblast Growth Factor Receptors in Human Digital Development Suggests Common Pathogenesis in Complex Acrosyndactyly and Craniosynostosis, Plastic and Reconstructive Surgery, 107, 6, (1339), (2001). [doi.org]

  • Frontal Bossing

    He was noted to have an atypical facial appearance with frontal bossing and maxillary hypoplasia. Examination of the hands revealed bilateral syndactyly, suggesting a diagnosis of acrocephalosyndactyly. [ncbi.nlm.nih.gov]

Because cardiovascular and genitourinary anomalies occur with significant frequency, they should be considered in the workup of all Apert newborn infants. [scienceopen.com]

Treatment consisted of surgical correction of the unusual digital deformity. The literature is reviewed in regard to acrocephalosyndactyly and related congenital disorders and deformities. [ncbi.nlm.nih.gov]

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]

Early surgical treatment aims to minimize the deleterious effects of intracranial hypertension. [scienceopen.com]

Montserrat Gilaberte, Lluis Puig and Agustín Alomar, Isotretinoin Treatment of Acne in a Patient with Apert Syndrome, Pediatric Dermatology, 20, 5, (443-446), (2003). [doi.org]

Etiology Mutations in the following genes have been found in ACS: FGFR1 (8p12), FGFR2 (10q25.3-q26), FGFR3 (4p16.3), and TWIST1 (7p21). [orpha.net]

Summary Epidemiology The exact prevalence and birth incidence of ACS syndromes are not known. [orpha.net]

Record: found Abstract: found Article: found Is Open Access Authors: 1, &, Sana Chaouki 1, Samir Atmani 1, Moustapha Hida 1 Publication date (Electronic): 18 February 2013 Journal: The Pan African Medical Journal Publisher: The African Field Epidemiology [scienceopen.com]

D Jordan, S Hindocha, M Dhital, M Saleh and W Khan, The Epidemiology, Genetics and Future Management of Syndactyly, The Open Orthopaedics Journal, 10.2174/1874325001206010014, 6, 1, (14-27), (2012). [doi.org]

We describe a possible pathophysiologic mechanism for chylous ascites that developed several months after menarche in a woman with acrocephalosyndactyly and congenital lymphatic dysplasia. [ncbi.nlm.nih.gov]