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]

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

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]

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

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]

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]

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]

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]

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]

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]

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]