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34 Possible Causes for Small Saddle Nose, Sparse Eyelashes

  • Rothmund Thomson Syndrome

    His physical examination showed saddle nose, maxillary hypoplasia, small hands and feet.[springerplus.springeropen.com] The authors describe two siblings with RTS and inflammatory conjunctival disease featuring fornix shortening and symblepharon as well as palpebral disease with sparse eyelashes[ncbi.nlm.nih.gov] General external examination was remarkable for short stature, telecanthus, a saddle nose, and hypodontia.[healio.com]

  • Hidrotic Ectodermal Dysplasia

    nose hypoplastic alae nasi nasal mucosa atrophy ozena depressed nasal root and bridge (’saddle nose’) decreased palatal depth prominent lips hypodontia adontia microdontia[humpath.com] , pale scalp hair short, sparse eyelashes sparse axillary and pubic hair Clinical features from OMIM: 601375 Human phenotypes related to Ectodermal Dysplasia, Hidrotic, Christianson-Fourie[malacards.org] .  Craniofacial features:  Distinctive facies with frontal bossing, concave midface, saddle nose and everted lips  30% of affected males have small ears  facial features[slideshare.net]

  • Rapp-Hodgkin Syndrome

    .  Craniofacial features:  Distinctive facies with frontal bossing, concave midface, saddle nose and everted lips  30% of affected males have small ears  facial features[de.slideshare.net] He also had sparse eyelashes and eyebrows, and obstructed lacrimal puncta and epiphora. Bilateral bony external auditory canal stenosis led to hearing loss.[ncbi.nlm.nih.gov] […] by anhidrotic ectodermal dysplasia, cleft lip and palate, and accompanied by a characteristic facies (narrow nose and small mouth); wiry, slow-growing, uncombable hair; sparse[medical-dictionary.thefreedictionary.com]

  • Robinow Syndrome

    A male newborn who had fetal face appearance (broad and prominent forehead, hypertelorism, small saddle nose, anteverted nostrils, glabellar nevus flammeus, malar hypoplasia[ncbi.nlm.nih.gov] Scalp hair, eyelashes and eyebrows are usually sparse and hair color is light. The nails may be hypoplastic and brittle. Most of these infants have normal intelligence.[americorpshealth.biz]

  • Ectodermal Dysplasia

    .  Craniofacial features:  Distinctive facies with frontal bossing, concave midface, saddle nose and everted lips  30% of affected males have small ears  facial features[slideshare.net] As the first health care provider to link together the various symptoms described by the child’s parents—delayed teething, severe facial eczema, sparse eyelashes and missing[jcda.ca] All had fine, slow-growing scalp hair and body hair and some had sparse eyebrows and short eyelashes. Nearly all showed decrease in sweating.[ncbi.nlm.nih.gov]

  • Baller-Gerold Syndrome

    Other distinctive facial features can include widely spaced eyes ( hypertelorism ), a small mouth, and a saddle-shaped or underdeveloped nose.[ghr.nlm.nih.gov] Restrictive dermopathy Restrictive dermopathy is a rare, lethal autosomal recessive skin condition characterized by syndromic facies, tight skin, sparse or absent eyelashes[howlingpixel.com] […] mouth and a saddle-shaped or underdeveloped nose.[wiki.ggc.edu]

  • Adactyly of Foot

    Replaces: Saddle Nose Ski Jump Nose Objective: Tongue with a median apical indentation or fork Comments:Bifid tongue can be associated with Ankyloglossia, but this should[quizlet.com] […] pubic hair Blepharitis Xerostomia Sparse axillary hair Hydroureter Rectovaginal fistula Depressed nasal tip Hypoplasia of the thymus Hand polydactyly Sparse eyelashes Hypogonadotrophic[mendelian.co] The sparseness may be limited to one portion of the eyelid. We know of no normative data for Sparse eyelashes.[quizlet.com]

  • RAPADILINO Syndrome

    Other distinctive facial features can include widely spaced eyes ( hypertelorism ), a small mouth, and a saddle-shaped or underdeveloped nose.[ghr.nlm.nih.gov] […] hair, eyelashes and/or eyebrows gastrointestinal problems in infancy People with Rothmund-Thomson syndrome have a predisposition to cancer, particularly skin cancer and a[pfond.cmmt.ubc.ca] Some patients may also have characteristic abnormalities of the craniofacial area including a prominent forehead (frontal bossing) or a sunken nasal bridge (saddle nose).[rarediseases.org]

  • Kyphoscoliosis

    Many affected individuals have a distinctive facial appearance, including a protruding forehead, a sunken bridge of the nose (saddle nose), and a blue tint to the whites of[ghr.nlm.nih.gov] […] hair, eyelashes, and/or eyebrows; small size; skeletal and dental abnormalities; cataracts; and an increased risk for cancer, especially osteosarcoma.[ncbi.nlm.nih.gov] Affected individuals have short limbs compared to the size of their torso, as well as small hands and feet. Adults with this condition tend to develop obesity.[ghr.nlm.nih.gov]

  • Hay-Wells Syndrome

    .  Craniofacial features:  Distinctive facies with frontal bossing, concave midface, saddle nose and everted lips  30% of affected males have small ears  facial features[de.slideshare.net] In HWS the hair is coarse and sparse, eyelashes are sparse or absent, nails may be absent or malformed, and teeth may be small and malformed.[wikidoc.org] The major symptoms include palmoplantar hyperkeratosis, sparse, coarse, wiry hair, small, sparse eyelashes, malformed nails, missing teeth (anodontia/oligodontia), cleft palate[ncbi.nlm.nih.gov]

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