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53 Possible Causes for Bird-like Facies

  • Hallermann Syndrome

    Patients show bird-like facies, dental abnormalities, and hypotrichosis with various ophthalmic abnormalities.[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] School of Dentistry, University of Southern California, Los Angeles, USA. [email protected] Abstract Hallermann-Streiff syndrome is a rare congenital disorder characterized by bird-like[ncbi.nlm.nih.gov]

  • Seckel Syndrome

    Brain Dev. 2012 Mar;34(3):238-43. doi: 10.1016/j.braindev.2011.05.007. Epub 2011 Jun 12. Author information 1 Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Canada. Abstract Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism,[…][ncbi.nlm.nih.gov]

  • Mandibuloacral Dysostosis

    […] man·dib·u·lo·ac·ral dys·os·to·sis [MIM*248370] an autosomal recessive disorder, caused by a mutation in the gene LMNA encoding lamin A/C on 1 q. characterized by hypoplastic mandible, dental crowding, acroosteolysis, stiff joints, and atrophy of the skin of the hands and feet; clavicles are hypoplastic, cranial[…][medical-dictionary.thefreedictionary.com]

  • 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] […] 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] 'Bird-like' facies. Short stature . Premature greying and/or balding. Other signs and symptoms Type 2 diabetes mellitus. Hypogonadism and decreased fertility.[patient.info]

  • Autosomal Recessive Primary Microcephaly 11

    Linfoma de células B rico en células T Nijmegen breakage syndrome is a rare autosomal recessive disorder characterized by a peculiar dysmorphic syndrome (microcephaly, “bird-like[analesdepediatria.org] facies, short stature), combined immunodeficiency with recurrent infections, X-ray hypersensitivity and predisposition to malignancy, mainly lymphomas, as a consequence of[analesdepediatria.org]

  • Ectodermal Dysplasia Type Tricho-Odonto-Onychial

    Some patients have been described to have a bird-like facies.[orpha.net]

  • Autosomal Recessive Primary Microcephaly 6

    Linfoma de células B rico en células T Nijmegen breakage syndrome is a rare autosomal recessive disorder characterized by a peculiar dysmorphic syndrome (microcephaly, “bird-like[analesdepediatria.org] facies, short stature), combined immunodeficiency with recurrent infections, X-ray hypersensitivity and predisposition to malignancy, mainly lymphomas, as a consequence of[analesdepediatria.org]

  • Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome

    bird-like facies lymphomas ionizing radiation sensitivity chromosomal instability gene NBS1 bone marrow failure leukemia lymphoma short stature bird-like facies sensitivity[quizlet.com] […] ataxia high AFP cancers chromosomal instability gene ATM ataxia-telangiectasisa-like disease moderate ataxia normal AFP gene MRE11 Nigmegen breakage syndrome microcephaly[quizlet.com]

  • PIBIDS Syndrome

    facies.[ommbid.mhmedical.com] […] combination of sun sensitivity, short stature, severe neurologic abnormalities due to dysmyelination, cataracts, dental caries, a wizened appearance, and a characteristic bird-like[ommbid.mhmedical.com]

  • Skin Atrophy

    like facies, cataract of both eyes for which she was operated, H/O diabetes mellitus since 10 years on treatment, all her complaints were less severe compared to her elder[medical-dictionary.thefreedictionary.com] Systemic Features: The facies are sometimes described as 'bird-like' with a beaked nose, brachycephaly, and micrognathia.[disorders.eyes.arizona.edu] […] younger sister, 33 year old female came with similar complaints, sparse hair, mottled pigmentation, dry atrophic skin , loss of subcutaneous fat, prematurely aged appearance, bird[medical-dictionary.thefreedictionary.com]

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