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21 Possible Causes for Beaked Nose, Hypertrichosis of Eyebrows, Long Lashes

  • Rubinstein-Taybi Syndrome

    A 2 month-old boy had atypical facial findings such as low anterior hairline, triangular face, hirsutism on forehead, down-slanting palpebral fissures, beaked nose, broad[ncbi.nlm.nih.gov] lashes, beaked nose, and high narrow palate), micrognathia, hirsutism, and low anterior hairline.[genedx.com] The common abnormalities include hypertrichosis and hirsuitism,heavy eyebrows, prominent beaked nose,hypoplastic maxilla, lowest ears and skeletal anomalies including broad[ispub.com]

  • Cerebro-Facio-Thoracic Dysplasia

    nose with or without nasal septum extending below alae nasi (100%), thumbs are broad, occasionally bifid, cardiac defects in 25%, broad great toes in 100%, ear infections[en.wikibooks.org] ), a narrow forehead and a short nose; there are also hypertrichosis (espec- ially posteriorly) and mental retardation.[vdocuments.site] […] postnatal growth retardation, cardiac defects, DD Rubinstein-Taybi syndrome Microcephaly, antimongoloid eye slant, hypertelorism, long eyelashes, milt ptosis, prominent and/or beaked[en.wikibooks.org]

  • Congenital Disorder of Glycosylation Type 2A
  • Wiedemann-Steiner Syndrome

    Bilateral ptosis Cervical platyspondyly Mandibular prognathia Anterior beaking of thoracic vertebrae Camptodactyly Pachygyria Decreased fetal movement Nephropathy Paraplegia[mendelian.co] Affected individuals had long lashes, wide-set eyes, arched brows, a long philtrum (the space between the nose and the upper lip), short nose, low-set ears and a high palate[geneticliteracyproject.org] […] cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long[orpha.net]

  • Acrorenal Mandibular Syndrome

    External anomalies were low-set ears, beaked nose, micrognathia (Fig. la), bilateral varus deformity, left claw foot having two toes, cleft between two toes, till metatarsal[archive.org] […] eye lashes, long philtrum, low-set ears, short upturned nose, thin downturned lips OTHER: developmental delay (severe speech delay mild-moderate MR), seizures (23%), congenital[quizlet.com] Sparse and thin eyebrow Small nail Large fontanelles Enlarged cochlear aqueduct Dilatated internal auditory canal Incomplete partition of the cochlea type II Atresia of the[mendelian.co]

  • Amaurosis-Hypertrichosis Syndrome

    The congenital malformations include hypertelorism, microphthalmia, beak nose, ocnga lyric low-set ears, cleft palate, micrognathia, simian crease, hypertrichosis, consolidation[gilota.xpg.uol.com.br] Terminal hair, the third type, is on the scalp and forms the eyebrows and lashes.[blogs.plos.org] , associated with trichomegaly, bushy eyebrows with synophyrys, and excessive facial and body hair .[checkorphan.org]

  • Warburg Micro Syndrome 3

    All had severe mental retardation and other findings, such as hypertrichosis, beaked nose with prominent nasal root, short philtrum, and prominent ears.[iamg.in] lashes, beaked nose, and high narrow palate), micrognathia, hirsutism, and low anterior hairline.[genedx.com] Clinical features also included microcephaly, frontal hypertrichosis, sparse and up-slanted eyebrows, hypotelorism, short palpebral fissures, bulbous nose, arched palate,[omicsonline.org]

  • Gingival Fibromatosis-Hypertrichosis Syndrome

    The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly[mendelian.co] […] eye lashes.[jisppd.com] An example of naevoid circumscribed hypertrichosis is the presence of a solitary and very bushy eyebrow.[dermnetnz.org]

  • Acrootoocular Syndrome

    It is characterized by microphthalmia, brachycephaly with frontal bossing, micrognathia and beaked nose.[bredagenetics.com] Ophthalmological Manifestations Synophrys and long eye lashes although not specific, are seen in over 95 % of children with CdLS.[entokey.com] A down sloping V-shaped configuration of the eyebrows as they met and extended onto the upper part of the nasal bridge is common. Brow hypertrichosis may be observed.[entokey.com]

  • Congenital Generalized Hypertrichosis

    Characteristic features such as protruding eyes, a thin nose with a beaked tip, thin lips, and slender limbs with prominent joints, baldness, and small jaw are developed in[omicsonline.org] […] eye lashes.[jisppd.com] 2.1.1 hypertrichosis cubiti 2.1.2 hypertrichosis of the auricle 2.1.3 hypertrichosis of the eyebrows 2.1.4 hairy polythelia 2.1.5 anterior cervical hypertrichosis 2.2 Hamartomas[quizlet.com]

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