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35 Possible Causes for Beaked Nose, Bird-like Facies

  • Mandibuloacral Dysostosis

    Some patients may show premature aging features including bird-like facies, high-pitched voice, alopecia, skin atrophy, and nail dysplasia [ 2 , 6 ].[bmcpediatr.biomedcentral.com] 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]

  • 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]

  • 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] Characteristic features include short stature, premature graying, early baldness, wizened face, beaked nose, cataracts , skin changes reminiscent of those in scleroderma ,[medicinenet.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]

  • Progeria

    facies Bird-like facial appearance 0000320 Craniofacial disproportion 0005461 Decreased serum estradiol 0008214 Decreased testosterone in males 0008230 Delayed eruption of[rarediseases.info.nih.gov] […] 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] The children usually present in late infancy and early childhood with a characteristic phenotype of alopecia; short stature; abnormal skin, teeth, and nails; beaked nose;[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] Hallermann-Streiff syndrome is a rare congenital disorder characterized by bird-like facies and dental anomalies.[ncbi.nlm.nih.gov]

  • 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]

  • Oculomaxillofacial Dysostosis

    […] oculomandibulofacial syndrome principally characterized by hypotrichosis , microphthalmia (small eyes dis-order) , mandibular hypoplasia , dyscephaly (usually brachycephaly), bird-like[wellnessadvocate.com] nose, and hypoplastic maxilla with relative mandibular prognathism, often causing the skull to be short in the front and the back, and if severe with a cloverleaf skull .[wellnessadvocate.com] facies (parrot nose), proportionate nanism, and bilateral congenital cataracts . [14824] References: Tartaglia M. et al "Jackson-Weiss syndrome: identification of two novel[wellnessadvocate.com]

  • Xeroderma Pigmentosum-Cockayne Syndrome Complex

    facies.[ommbid.mhmedical.com] Facial features include sunken eyes, loss of cutaneous fat, and a beaked nose. Please visit our CS page for photos of children with CS.[forgottendiseases.org] […] 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]

  • 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]

  • Qazi-Markouizos Syndrome

    […] syndrome ( DOID:0060590 ) Alliance: disease page Synonyms: XFEPS; XPF-ERCC1 progeroid syndrome Alt IDs: OMIM:610965 , MESH:C567043 Definition: A syndrome characterized by aged bird-like[informatics.jax.org] nose Primary amenorrhea Small pituitary gland Pes planus Hypodontia Convex nasal ridge Sloping forehead Oligodontia Clitoral hypertrophy Abnormal cortical gyration 11 pairs[mendelian.co] facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly.[informatics.jax.org]

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