Keutel syndrome (KS) is a rare autosomal recessive genetic disorder characterized by abnormal diffuse cartilage calcification, hypoplasia of the mid-face, peripheral pulmonary stenosis, hearing loss, short distal phalanges (tips) of the fingers and mild mental retardation. Individuals with KS often present with peripheral pulmonary stenosis, brachytelephalangism, sloping forehead, midface hypoplasia, and receding chin. It is associated with abnormalities in the gene coding for matrix gla protein (MGP). Being an autosomal recessive disorder, it may be inherited from two unaffected, abnormal MGP-carrying parents. Thus, people who inherit two affected MGP genes will likely inherit KS. It was first identified in 1972 as a novel rare genetic disorder sharing similar symptoms with chondrodysplasia punctata. Multiple forms of chondrodysplasia punctata share symptoms consistent with KS including abnormal cartilage calcification, forceful respiration, brachytelephalangism, hypotonia, psychomotor delay, and conductive deafness, yet peripheral pulmonary stenosis remains unique to KS.No chromosomal abnormalities are reported in affected individuals, suggesting that familial consanguinity relates to the autosomal recessive mode of inheritance. Also, despite largely abnormal calcification of regions including the larynx, tracheobronchial tree, nose, pinna (anatomy), and epiglottis, patients exhibit normal serum calcium and phosphate levels. Signs and symptoms
Being an extremely rare autosomal genetic disorder, differential diagnosis has only led to several cases since 1972. Initial diagnosis lends itself to facial abnormalities including sloping forehead, maxillary hypoplasia, nasal bridge depression, wide mouth, dental malocclusion, and receding chin. Electroencephalography (EEG), computed tomography (CT) scanning, and skeletal survey are further required for confident diagnosis.
Phthisis bulbi is a shrunken, non-functional eye. It may result from severe eye disease, inflammation or injury, or it may represent a complication of eye surgery. Treatment options include insertion of a prosthesis, which may be preceded by enucleation of the eye. Symptoms
The affected eye is shrunken, and has little to no vision. The intraocular pressure in the affected eye is very low or nonexistent. The layers in the eye may be fused together, thickened, or edematous. The eyelids may be glued shut. The eye may be soft when palpated. Under a microscope there may be deposits of calcium or bone, and the cornea is often affected by cataracts. Causes
It can be caused by injury, including burns to the eye, or long-term eye disease or inflammation. End-stage glaucoma can cause it. It can often complicate eye surgery. Other common causes include cancer, retinal detachment, vascular lesions, infection, and inflammation. Treatment
Treatment for the affected eye is often futile. Usually, treatment is to end the pain in the affected eye and for cosmetic purposes, not to restore vision. It can be removed, a procedure called enucleation of the eye. Sometimes, though, it is possible to transplant only parts of the eye, and some vision can be restored. References


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