Create issue ticket

14 Possible Causes for Complete Penetrance with Variable Expressivity, Conical-Shaped Teeth, Constipation

  • Hidrotic Ectodermal Dysplasia

    Figure 3: Teeth are reduced in number and are conical in shape. Figure 4: Panoramic radiograph shows eight erupted teeth of primary dentition and eight tooth buds. 3.[] Perianal lesions are common (about 30%) and may cause constipation. May be asymptomatic and found incidentally. Signs: White lesions as above.[] Specifically, the inheritance exhibits complete penetrance but variable clinical expression.[]

  • Microdontia

    Other associated tooth abnormalities are enamel hypoplasia, conical-shaped teeth, shortened roots, taurodontism and delayed eruption. 2.[] […] iris Retinal vascular tortuosity Abnormality of the ankles Abnormality of refraction Peripheral pulmonary artery stenosis Renal duplication Vocal cord paralysis Chronic constipation[] Reduced penetrance and variable expressivity has been observed ( Fraser et al., 1978 ).[]

  • Autosomal Dominant Prognathism

    They also have conical shaped teeth with ename hypoplasia. CCD (cliedocronial Dyslpasia) Autsomal Dominatn, spontaneus mutation.[] Nausea, vomiting, constipation, and diarrhea all can occur. Muscle weakness, seizures, headaches, forgetfulness and confusion are often the neurological symptoms.[] penetrance and variable expressivity.[]

  • Gorlin-Chaudhry-Moss Syndrome

    Oligodontia, macrodontia, peg-shaped, and widely spaced teeth can be seen occasionally.[] Although these drugs differ chemically, the most common side effects are nausea, vomiting, diarrhea, constipation, decreased appetite, rash, dizziness, headache, and drowsiness[] penetrance and variable expressivity.[]

  • Congenital Ankyloblepharon

    AEC Syndrome is a Rare Genetic Condition Characterized by Teeth Missing (hypodontia) Conical shaped teeth Sweat Glands A reduced ability to sweat (hypohidrosis) Skin Fragile[] Van E. 2008 393 Constipation in Epidermolysis Bullosa: Successful Treatment with a Liquid Fiber‐Containing Formula Haynes, Lesley / Atherton, David / Clayden, Graham 2008[] Transmitted as an autosomal dominant trait with complete penetrance and variable expressivity.[]

  • Kabuki Syndrome

    Deformities in tooth shape and number are noted in most cases; usually it is the front teeth in the upper or lower jaw that are missing.[] […] arched palate dental problems, such as missing teeth, unusually shaped teeth or misaligned teeth early breast development or early puberty in girls seizures diarrhea or constipation[] Variable expressivity may lead to underascertainment of mildly affected individuals.[]

  • Steatocystoma Multiplex With Natal Teeth

    […] are small or of normal size, conical or of normal shape.[] […] micromelia thoracic dysplasia * Cluttering * CMV antenatal infection * COACH syndrome * Coal worker's pneumoconiosis * Coarctation of aorta dominant * Coarse face hypotonia constipation[] It has a pattern of autosomal dominant inheritance (40% de novo mutations), with complete penetrance and a variable expression. 1 Its historical classification includes two[]

  • Ectodermal Dysplasia - Cutaneous Syndactyly Syndrome

    Dental findings consist of abnormally widely spaced teeth, with peg-shaped and conical crowns. Patients have normal sweating.[] Cleft upper lip Synophrys Toe syndactyly Neurological speech impairment Macrotia Wide intermamillary distance Hypogonadism Postnatal microcephaly Gastroesophageal reflux Constipation[] Variable expression with complete penetrance E. Variable penetrance with incomplete expressivity Answer: D.[]

  • Taurodontism Microdontia and Dens Invaginatus

    The anomalies found were: dens in dente, tooth agenesis, Taurodontism, macrodontia, conic shaped teeth, supernumerary teeth, microdontia, transpositions, fusions, mesiodens[] Excludes: psychogenic constipation (306.4) 564.00 Constipation, unspecified 564.01 Slow transit constipation 564.02 Outlet dysfunction constipation 564.09 Other constipation[] penetrance - Variable expressivity - Mutations in D2 and D3 region.[]

  • Craniosytosis Mental Retardation Syndrome of Lin and Gettig

    . ; (teeth agenesis, microdontia, conical shape, enamel hypoplasia) encountered in syndromes ......[] […] abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation[] penetrance and variable expressivity.[]

Similar symptoms