Pathophysiology
Hemorrhoid cushions are a part of normal human anatomy and become a pathological disease only when they experience abnormal changes. There are three main cushions present in the normal anal canal. These are located classically at left lateral, right anterior, and right posterior positions. They are composed of neither arteries nor veins, but blood vessels called sinusoids, connective tissue, and smooth muscle. : 175  Sinusoids do not have muscle tissue in their walls, as veins do. This set of blood vessels is known as the hemorrhoidal plexus.Hemorrhoid cushions are important for continence. They contribute to 15–20% of anal closure pressure at rest and protect the internal and external anal sphincter muscles during the passage of stool. When a person bears down, the intra-abdominal pressure grows, and hemorrhoid cushions increase in size, helping maintain anal closure. Hemorrhoid symptoms are believed to result when these vascular structures slide downwards or when venous pressure is excessively increased. Increased internal and external anal sphincter pressure may also be involved in hemorrhoid symptoms. Two types of hemorrhoids occur: internals from the superior hemorrhoidal plexus and externals from the inferior hemorrhoidal plexus. The pectinate line divides the two regions. Diagnosis
Hemorrhoids are typically diagnosed by physical examination. A visual examination of the anus and surrounding area may diagnose external or prolapsed hemorrhoids. A rectal exam may be performed to detect possible rectal tumors, polyps, an enlarged prostate, or abscesses. This examination may not be possible without appropriate sedation because of pain, although most internal hemorrhoids are not associated with pain.
Short middle fifth phalanges, sometimes causing short and wide fingers. Vertebral abnormalities. On rare occasions, brachial plexus irritation can occur. Scoliosis, spina bifida and syringomyelia have also been described.Other features are: parietal  bossing, basilar invagination (atlantoaxial impaction), persistent metopic suture, abnormal  ear structures with hearing loss, supernumerary ribs, hemivertebrae with spondylosis,  small and high scapulae, hypoplasia of illiac bones, absence of the pubic bone, short / absent fibular bones, short / absent  radial bones, hypoplastic terminal phalanges. Genetics
CCD is usually autosomal dominant, but in some cases its cause is not known. The main mechanism is thought to involve haploinsufficiency caused by mutations in CBFA1 (also known as Runx2), a gene located on the short arm of chromosome 6 (6p21), which encodes a transcription factor required for the differentiation of stem cells into osteoblasts. This results in delayed ossification of midline structures of the body and ensuing defects in membranous and endochondral bone formation. Diagnosis
Different features of the dysostosis are significant. Radiological imaging helps confirm the diagnosis. During gestation (pregnancy), clavicular size can be calculated using available nomograms. Wormian bones can sometimes be observed in the skull.Diagnosis of CCD spectrum disorder is established in an individual with typical clinical and radiographic findings and/or by the identification of a heterozygous pathogenic variant in RUNX2 (CBFA1). Treatment
Around 5 years of age, surgical correction may be necessary to prevent any worsening of the deformity. If the mother has dysplasia, caesarian delivery may be necessary. Craniofacial surgery may be necessary to correct skull defects.