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28 Possible Causes for Beaked Nose, Bird-like Facies

  • Seckel Syndrome

    This syndrome is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly with a "bird-headed" like appearance (beaked nose, receding forehead, prominent[ncbi.nlm.nih.gov] General appearance of the patient was characterized by small forehead, posteriorly slanted ears, slightly beaked nose, midfacial hypoplasia very stunted stature with microcephaly[ncbi.nlm.nih.gov] Seckel syndrome is a rare entity characterized by marked growth retardation, microcephaly, facies characterized by receding forehead and chin, large beaked nose, and severe[ncbi.nlm.nih.gov]

  • Hallermann Syndrome

    Patients show bird-like facies, dental abnormalities, and hypotrichosis with various ophthalmic abnormalities.[ncbi.nlm.nih.gov] The Hallermann-Streiff syndrome is characterized by bird-like face, micropthalmia, cataracts, micrognathia, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy[ncbi.nlm.nih.gov] It is characterized by bird-like facies, dental abnormalities, hypotrichosis, atrophy of skin, congenital cataracts, bilateral microphthalmia, and proportionate nanism.[ncbi.nlm.nih.gov]

  • Werner Syndrome

    He had a high-pitched voice, hoarseness, a characteristic bird-like facies, bilateral cataracts, generalized osteoporosis, hypotrichosis, atrophic and poikilodermic skin,[ncbi.nlm.nih.gov] Grating hair, scanty eyebrows, a pinched or beaked nose, protuberant eyes and the absence of eyelashes contribute to the presenile appearance.[whonamedit.com] […] symptoms of early onset bilateral cataracts, thinning and graying of the hair, short stature and skin changes (ankle ulceration, hyperkeratosis, tight skin, age spots, ''bird-like[orpha.net]

  • Mandibuloacral Dysostosis

    From Dorland's, 2000. craniofacial dysostosis an autosomal dominant condition marked by a pointed or conical skull, protruding wide-set eyes, strabismus, parrot-beaked nose[medical-dictionary.thefreedictionary.com] Some people with this condition have features of premature aging (a condition called progeria), such as thin skin, loss of teeth, loss of hair, and a beaked nose.[ghr.nlm.nih.gov] nose - Clavicle absent / abnormal - External ear anomalies - Global upper and lower limbs anomalies - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana -[csbg.cnb.csic.es]

  • Beaked Nose

    Systemic Features: The facies are sometimes described as 'bird-like' with a beaked nose, brachycephaly, and micrognathia.[disorders.eyes.arizona.edu] 14 doctors shared insights Beaked Nose (Overview) Beaked nose curved or hooked nose.[healthtap.com] Micrognathia and a broad and beaked nose with notched alae nasi were described together with a malformed and atretic larynx.[disorders.eyes.arizona.edu]

  • Progeria

    Some patients show progeroid features such as bird-like facies, high-pitched voice, and ectodermal defects, such as skin atrophy, alopecia, and nail dysplasia ( 1 – 6 ).[doi.org] […] wasting, skin atrophy, disseminated skeletal osteoporosis (documented for at least 25 years), especially in the vertebral column and metacarpal joints with short stature, beaked[ncbi.nlm.nih.gov] […] autosomal recessive disorder, which presents with the following clinical features: postnatal growth retardation, craniofacial anomalies such as mandibular hypoplasia and bird-like[dx.doi.org]

  • LIG4 Syndrome

    Table 1 List of reported presenting features in LIG4 patients [ 12 – 18 , 22 – 27 , 31 ] Physical features Microcephaly Growth restriction "Bird-like" or "Seckel syndrome-like[doi.org] Clinical description LIG4 syndrome presents in childhood with microcephaly, unusual facial features that have been described as ''bird-like'' (beak-like nose and micrognathia[orpha.net] " facies Bilateral epicanthic folds Hypogonadism Bone abnormalities Bone Hypoplasia Syndactyly Polydactyly Congential Hip Dysplasia Skin conditions Photosensitivity Psoriasis[doi.org]

  • PIBIDS Syndrome

    facies.[ommbid.mhmedical.com] nose * Receding chin * Protruding ears * Low birth weight * Short stature * Neurosensory deafness * Seizures * Tremors * Undescended testes * Underdeveloped female genitalia[checkorphan.org] […] increase in skin cancer – Complementation group B, D and G • AR • RECQL2 – DNA helicase Werner Syndrome (Adult Progeria) • Scleroderma-like changes • Beaked nose • CAD Werner[brainscape.com]

  • Colobomatous Microphthalmia - Rhizomelic Dysplasia Syndrome

    like" facies - often have ASD - upper limb defects (3 thumb joints) - myopia - downward lens dislocation (ectopia lentis) - osteoporosis - marfanoid body babitus - abnormal[quizlet.com] Systemic Features: The facies are sometimes described as 'bird-like' with a beaked nose, brachycephaly, and micrognathia.[disorders.eyes.arizona.edu] Hallermann-Streiff Syndrome Hallermann-Streiff syndrome is an isolated disease, which involves dyscephaly with a beak-shaped nose and micrognathia, short stature, dental abnormalities[entokey.com]

  • Uveal Coloboma - Cleft Lip and Palate - Intellectual Disability

    like" facies - often have ASD - upper limb defects (3 thumb joints) - myopia - downward lens dislocation (ectopia lentis) - osteoporosis - marfanoid body babitus - abnormal[quizlet.com] , MR - AD inheritance - craniosynostosis - prominent forehead, shallow orbits & proptosis, and beak nose - 30% have hydrocephalus - NO syndactyly - AD inheritance - red blood[quizlet.com] […] common cause of genetic intellectual disability - long face, large ears, macroorchidism - typically only in MALES Hallermann Streif Syndrome - pointed nose - small eyes - "bird[quizlet.com]

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