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101 Possible Causes for Bird-Like Face

  • Lymphoreticular Tumor

    Contrary to Louis-Bar syndrome, it doesn’t present telangiecta-sia and exhibits a characteristic phenotype (short stature, bird-like face and microcephaly).[elsevier.es]

  • Entropion

    He had a bird-like face, pinched nose, hypotrichosis of the scalp, mandibular hypoplasia with forward displacement of the temporomandibular joints, a small mouth, and proportional[ncbi.nlm.nih.gov]

  • Cernunnos-XLF Deficiency

    Here, we present a 3-year-old girl patient with severe growth retardation, bird-like face, recurrent perianal abscess, pancytopenia, and polydactyly.[scienceopen.com] In conclusion, the patients with microcephaly, bird-like face, and severe growth retardation should be evaluated for hypogammaglobulinemia and primary immunodeficiency diseases[scienceopen.com]

  • Seckel Syndrome

    Seckel syndrome is a rare autosomal recessive disorder, and its characteristic features include prenatal and postnatal growth retardation, microcephaly, and "bird-like" face[ncbi.nlm.nih.gov] […] is characterized by intrauterine growth retardation and postnatal dwarfism with a small head, narrow bird-like face with a beak-like nose, large eyes with down-slanting palpebral[liveleak.com] The Seckel syndrome or microcephalic primordial dwarfism (also known as bird-headed dwarfism, Harper's syndrome, Virchow-Seckel dwarfism, and Bird-headed dwarf of Seckel.It[liveleak.com]

  • CAMFAK Syndrome

    Characteristics [ edit ] Low birth weight and a bird-like face may be the first signs. Severe intellectual deficit and death within the first decade are typical.[en.wikipedia.org] Characteristics Low birth weight and a bird-like face may be the first signs. Severe intellectual deficit and death within the first decade are typical.[en.gowikipedia.org] Low birth weight and a bird-like face may be the first signs. Severe intellectual deficit and death within the first decade are typical.[en.academic.ru]

  • Werner Syndrome

    Clinical findings include: senile appearance, short stature, grey hair, alopecia, bird-like face, scleroderma-like skin changes, skin ulcers, voice abnormalities, cataracts[ncbi.nlm.nih.gov] […] such as high-pitched voice, scleroderma, lipoatrophy and atherosclerosis, several cardinal features of WS, including short stature, premature graying/alopecia, cataract, bird-like[ncbi.nlm.nih.gov] She displayed typical features of Werner syndrome including juvenile cataract, short stature and low weight, a bird-like face, a hoarse voice, and dry, atrophic, pigmented[ncbi.nlm.nih.gov]

  • Hallermann Syndrome

    The Hallermann-Streiff syndrome is characterized by bird-like face, micropthalmia, cataracts, micrognathia, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy[ncbi.nlm.nih.gov] The diagnosis was established by endocrinologist based on the presence of specific facial gestalt (bird-like face) and bilateral congenital cataracts.[ncbi.nlm.nih.gov] Dyscephaly, microphthalmia, cataracts, hypotrichosis, cutaneous atrophy, thin pinched nose, and a typical bird-like face are the main features of the syndrome.[ncbi.nlm.nih.gov]

  • Oculodentodigital Dysplasia

    […] syndrome correlates with the Hallermann-Streiff syndrome, or oculomandibulodyscephaly, which is characterized by a typical skull shape (brachicephaly with frontal brossing), a bird-like[ncbi.nlm.nih.gov] […] syndrome correlates with the Hallermann-Streiff syndrome , or oculomandibulodyscephaly, which is characterized by a typical skull shape (brachicephaly with frontal brassing), a bird-like[journals.lww.com] face, and eye abnormalities (congenital cataracts and microphthalmia).[ncbi.nlm.nih.gov]

  • Nijmegen Breakage Syndrome-Like Disorder

    Here, we report on a patient previously diagnosed as probably having NBS, with microcephaly, mental retardation, 'bird-like' face, and short stature.[ncbi.nlm.nih.gov] face.[uniprot.org] ; part of MRN complex involved in DNA double-strand break recognition and repair Microcephaly, mental retardation, "bird-like" face, short stature 1 individual reported to-date[en.wikibooks.org]

  • Baraitser Syndrome

    Temple-Baraitser syndrome, previously described in two unrelated patients, is the association of severe mental retardation and abnormal thumbs and great toes. We report two additional unrelated patients with Temple-Baraitser syndrome, review clinical and radiological features of previously reported cases and discuss[…][ncbi.nlm.nih.gov]

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