Create issue ticket

1,080 Possible Causes for Frontal Bossing, Short Stature

  • Mucopolysaccharidosis 2

    Early bone involvement leads to decreased growth velocity and short stature in nearly all patients.[ncbi.nlm.nih.gov] 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] Short stature is usually not noted until after age 3 years.[emedicine.medscape.com]

  • Mucopolysaccharidosis 6

    The characteristic skeletal dysplasia includes short stature, dysostosis multiplex and degenerative joint disease.[orpha.net] 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]

  • Mucopolysaccharidosis

    The pathogenesis and treatment of systemic skeletal dysplasia in MPS IVA remains an unmet challenge.[ncbi.nlm.nih.gov] 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] bossing.[invitae.com]

  • Hypochondroplasia

    Dyschondrosteosis (DCO) and hypochondroplasia (HCH) are common skeletal dysplasias characterized by disproportionate short stature.[ncbi.nlm.nih.gov] 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] Hypochondroplasia (HCP) is an autosomal dominant skeletal dysplasia characterized by short extremities, short stature and lumbar lordosis, usually exhibiting a phenotype similar[ncbi.nlm.nih.gov]

  • Three M Syndrome

    Antenatally, he was suspected to have skeletal dysplasia.[edmcasereports.com] bossing, midface hypoplasia, a short upturned nose with anteverted nares and full lips. read more[ctgt.net] bossing.[3msyndrome.wordpress.com]

  • Achondroplasia

    Achondroplasia, showing short stature and disproportionately short limbs, causes physical inconvenience such as difficulty in reaching high objects.[ncbi.nlm.nih.gov] Achondroplasia is an autosomal dominant disorder characterized by disproportionately short stature, frontal bossing, rhizomelia, and trident hands.[ncbi.nlm.nih.gov] A prenatal 3-D helical CT revealed a large head with frontal bossing, metaphyseal flaring of the long bones, and small iliac wings, which suggested achondroplasia.[ncbi.nlm.nih.gov]

  • Thalassemia

    For instance, patients may be of short stature or have bone deformities or impaired fertility—all of which could affect how they think of themselves and how they think others[celgene.com] bossing (due to bone marrow expansion) Delayed pneumatization of sinuses Marked overgrowth of the maxillae Ribs and long bones becoming boxlike and convex Premature closure[emedicine.medscape.com] Endocrine dysfunction secondary to iron overload is common in multiply transfused patients, manifesting as hypogonadotrophic hypogonadism, short stature, acquired hypothyroidism[patient.info]

  • CINCA Syndrome

    Figure 3: Growth retardation and short stature occur due to the chronic arthritis and steroid therapy (height of 1.40 m at the age of 15; Figure 4: Short, thickened extremities[healio.com] From the first days of life, patients display an urticarial rash in association with chronic inflammation with a typical facies featured by frontal bossing and saddle back[ncbi.nlm.nih.gov] Craniofacial abnormalities include macrocephaly with frontal bossing, saddle-back nose, and delayed closure of the anterior fontanel.[cags.org.ae]

  • Mucopolysaccharidosis 7

    People with MPS VII may experience joint stiffness, short stature, an enlarged spleen and liver, and heart and lung complications.[ultrarareadvocacy.com] Figure 1: (a - c) Magnetic resonance image showing scaphocephaly with frontal bossing and bilateral frontotemporal atrophy; (d - f) computed tomography surface shaded display[neurologyindia.com] MPS 7 also causes a characteristic facial appearance and can lead to a progressive skeletal dysplasia.[ultragenyx.com]

  • Coffin-Lowry Syndrome

    A family is reported in which the mother and 4 of her 6 children are affected by a constellation of abnormalities including mental handicap, abnormal facies, short stature[ncbi.nlm.nih.gov] Facial abnormalities (hypertelorism, frontal bossing, thick lips) become apparent in early childhood.[orpha.net] Coffin-Lowry syndrome is a rare X-linked disorder characterized by craniofacial and skeletal abnormalities, mental retardation, short stature, and hypotonia.[ncbi.nlm.nih.gov]

Further symptoms

Similar symptoms