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148 Possible Causes for Adult Onset - 40s, Frontal Bossing

  • Acromegaly

    bossing, enlarged paranasal sinuses (especially frontal sinuses) and an enlarged sella turcica .[radiopaedia.org] It is most often diagnosed in middle-aged adults (average age 40 years, men and women equally affected).[orpha.net] It is most often diagnosed in middle-aged adults (average age 40 years). Men and women are equally affected.[patient.info]

  • Familial Glucocorticoid Deficiency

    Various clinical presentations, most with some (clinical or subclinical) adrenal involvement: Childhood cerebral - onset usually Adult adrenomyeloneuropathy - onset usually[bigtomato.org] A characteristic facial appearance including hypertelorism, marked epicanthic folds and prominent frontal bossing was noted.[ncbi.nlm.nih.gov] 20-40 years, paraparesis over decades, late cognitive decline.[bigtomato.org]

  • Progeria

    With time, special facial features became more and more apparent: frontal bossing, prominent eyes, thin and fine nose and lips, microstomia, low-set ears and occipito-parietal[ncbi.nlm.nih.gov] . * Other progeroid syndromes include Werner’s syndrome, also known as “adult progeria” which does not have an onset until the late teen years, with a life span into the 40[progeriaresearch.org] The characteristic facies show protruding ears, beaked nose, thin lips with centrofacial cyanosis, prominent eyes, frontal and parietal bossing with pseudohydrocephaly, midface[ncbi.nlm.nih.gov]

  • Pseudohypoparathyroidism

    He and his mother were obese and had round faces, frontal bossing, small noses, flat nasal bridges, brachydactyly. His mother showed no hormonal resistance.[ncbi.nlm.nih.gov] Adult onset pseudohypoparathyroidism type-1b with normal phosphaturic response to exogenous parathyroid hormone.[ijem.in] Indian J Endocr Metab [serial online] 2011 [cited 2018 Nov 25];15:337-40.[ijem.in]

  • Costello Syndrome

    […] had bone pain, vertebral fractures, and height loss. 39 , 40 Adult-onset gastroesophageal reflux was present in four individuals in the series of White et al. 39 ; additional[nature.com] Our data reveal macrocephaly with progressive frontal bossing and CBTH, documenting an ongoing process rather than a static congenital anomaly.[ncbi.nlm.nih.gov] In 17 adults ranging from age 16 to 40 years, all eight individuals who had a bone density measurement had abnormal results that suggested osteoporosis or osteopenia; three[nature.com]

  • Alexander Disease

    Megalencephaly and frontal bossing are further manifestations of the disease.[orpha.net] To date, at least 24 reports of adult onset ALX, including over 40 patients, with 22 different missense mutations in the GFAP gene, have been published (Table 1 ) [ 10 , 11[bmcneurol.biomedcentral.com] […] of adult cases, it is not observed in infants or juveniles, indicating that symptoms differ according to age of onset. [6] In case 1, videofluorography demonstrated the complete[movementdisorders.org]

  • Generalized Gangliosidosis

    The ears are often large and low-set, the nasal bridge is depressed, the tongue is enlarged and frontal bossing is often striking.[disorders.eyes.arizona.edu] Adult/Late-Onset Tay-Sachs disease : A rare form of this disease, known as Adult-Onset or Late-Onset Tay-Sachs disease, usually has its first symptoms between the ages of[centogene.com] Dysmorphic features (These features display in some infantile cases, but are usually not present with juvenile or adult) Frontal bossing - a prominent, protruding forehead[gm1gangliosidosis.blogspot.com]

  • Mulibrey Nanism Syndrome

    bossing * Small tongue * Decreased retinal pigmentation * Crowded teeth * Missing frontal sinuses * Missing sphenoidal sinuses * Absent frontal sinuses * Absent sphenoidal[checkorphan.org] […] age Common: Adolescent or Adult Mean 13 years Range 1 to 40 years No relation between early onset age & genotype Rhabdomyolysis Triggers: Activities requiring & promoting[neuromuscular.wustl.edu] bossing, 50 th centile for age Short broad neck with prominent trapezius, trapezius, square shoulders Deformed sternum, short thorax Transverse grooves on anterior chest,[yumpu.com]

  • Autosomal Recessive Optic Atrophy Type 7

    The remainder of people with CMT1B have an adult onset, with symptoms tending to begin after age 40 and a comparatively milder presentation.[cmtausa.org] This disorder usually manifests in the first few months of life with macrocephaly and frontal bossing.[iofbonehealth.org] Phenotype Severe form, macrocephaly, frontal bossing, nystagmus, optic atrophy, blindness, deafness, facial palsy, thick and dense skull, narrowness of neural and vascular[iofbonehealth.org]

  • Grant Syndrome

    bossing 0002007 Joint dislocation Joint dislocations Recurrent joint dislocations [ more ] 0001373 Joint hyperflexibility Joints move beyond expected range of motion 0005692[rarediseases.info.nih.gov] Having three copies of this gene is a known risk factor for early-onset Alzheimer’s that can occur in people in their 30s, 40s and 50s.[nih.gov] […] bluish-gray color 0000592 Bowing of the long bones Bowed long bones Bowing of long bones [ more ] 0006487 Decreased skull ossification Decreased bone formation of skull 0004331 Frontal[rarediseases.info.nih.gov]

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