Create issue ticket

197 Possible Causes for Frontal Bossing, Normal Facies

  • Mucopolysaccharidosis

    […] dysmorphic facies: bushy eyebrows, low forehead, and a short pouting upper lip.[bloodjournal.org] Anteroposterior and lateral X-rays of the skull showed an calvarial thickening and depressed bridge of nose with frontal bossing with hypopneumatised mastoid ( Figure 3 ).[omicsonline.org] Initial physical examination revealed the presence of a coarse facies, short neck, kyphosis, restricted joint movements and deformities, and cardiac murmur besides a normal[ncbi.nlm.nih.gov]

  • Three M Syndrome

    ., 120-130 cm), characteristic facies, and normal intelligence.[ncbi.nlm.nih.gov] bossing, midface hypoplasia, a short upturned nose with anteverted nares and full lips. read more[ctgt.net] bossing.[3msyndrome.wordpress.com]

  • Mucopolysaccharidosis 6

    MPS-VI (Maroteaux-Lamy Syndrome) is an autosomal recessive syndrome due to deficiency of enzyme Aryl- Sulfatase -B, and is characterized by characteristic facies, normal intelligence[link.springer.com] Examples include low and flat nasal bridge, frontal bossing, gingival hypertrophy, macroglossia, and hirsutism.[symptoma.com] Such characteristics include chubby faces, thickened lips due to the overgrowth of the gums (gingival hypertrophy), an unusually prominent forehead (frontal bossing), and[rarediseases.org]

  • Acromegaly

    Facies with prognathism and macroglossia, thick lips, prominent brow ridges (Figure 1), deep voice. Normal on auscultation. Normal fundoscopy.[revistanefrologia.com] The forehead and overlying skin is thickened, sometimes leading to frontal bossing.[orpha.net] Untreated acromegaly results in marked bony and soft tissue changes including an altered facial appearance (frontal bossing, prognathism), enlargement of the hands and feet[acromegaly.org]

  • Hypochondroplasia

    […] with features similar to but much milder than achondroplasia; cranium and facies are normal. [ hypo- G. chondros, cartilage, plasis, a molding] hypochondroplasia chondrodysplasia[medical-dictionary.thefreedictionary.com] bossing, lumbar gibbus, trident position of the fingers, and a narrow chest with a horizontal line of demarcation at the narrowest area of the chest.[ncbi.nlm.nih.gov] It is characterized by rhizomelic dwarfism, trident hands and short fingers, midface hypoplasia with macrocephaly and frontal bossing.[ctgt.net]

  • Mobius Syndrome

    Since the tongue is atrophic, the palate isn't shaped normally that may result in difficult swallowing.[eyewiki.aao.org] Because of the doll-facies they have trouble in expressing their emotions and percieving other people's emotions as well.[eyewiki.aao.org]

  • Mucopolysaccharidosis 1

    Joint stiffness, corneal clouding, umbilical hernia, abnormal facies, hepatomegaly, joint contractures, and cervical myelopathy occur. Death tends to be in their 20s.[patient.info] MPS Hurler-Scheie (I-H/S) MPS Hurler-Scheie (I-H/S) is normally diagnosed by 6.5 years, with variable skeletal and visceral manifestations without cognitive involvement.[patient.info]

  • Fucosidosis

    In contrast, the milder phenotypes are characterized by the presence of angiokeratoma, longer survival, and more normal levels of sweat sodium chloride.[ommbid.mhmedical.com] The more severely affected patients have, within the first year of life, the onset of psychomotor retardation, coarse facies, growth retardation, dysostosis multiplex, neurologic[ommbid.mhmedical.com]

  • Alpha-Mannosidosis

    Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration[diseaseinfosearch.org] Cultured fibroblasts showed partial alpha-mannosidase deficiency (20% of normal), and the sibs were considered to be mildly affected.[cags.org.ae] Peripheral blood alpha mannosidase enzyme levels were 3.12 and 3.01 nmol/h/mgprotein (normal range 231.4 81) respectively.[turkiyeklinikleri.com]

  • Robinow Syndrome

    A cytogenetic study revealed a normal female karyotype.[ncbi.nlm.nih.gov] The first case, second living child of the family, has all of the cardinal features of this syndrome including short stature, mesomelic shortening of forearms, frontal bossing[ncbi.nlm.nih.gov] All the patients had cardinal features of this condition, such as short stature, frontal bossing, hypertelorism, short upturned nose with anteverted nares, micrognathia, mesomelic[ncbi.nlm.nih.gov]

Further symptoms

Similar symptoms