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37 Possible Causes for Anteverted Nostril, Hearing Impairment, Thick Facial Skin

  • Mucopolysaccharidosis 1H

    Hearing impairment. Mental retardation. Inguinal hernias. Joint stiffness and skeletal deformities Coronary heart disease. Hepatosplenomegaly.[medigoo.com] […] hairy skin all over the body, a tuft of hair in the parietal region, coarse facial features and a prominent forehead with a large tongue, hepatosplenomegaly and skeletal[dx.doi.org] nostrils, full cheeks and enlarged lips), cardiomyopathy and valvular abnormalities, neurosensorial hearing loss, enlarged tonsils and adenoids, and nasal secretion.[orpha.net]

  • Coffin-Lowry Syndrome

    Audiological tests revealed profound hearing impairment. Anomalous labyrinths were shown by CT scan of the temporal bones.[ncbi.nlm.nih.gov] Facial features include prominent forehead, widespread eyes, downslanting eyeslits, prominent ears, thick lips and irregular/missing teeth.[medicinenet.com] […] nares Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Brachydactyly Short fingers or toes 0001156 Broad finger Broad fingers Wide[rarediseases.info.nih.gov]

  • Lytic Bone Lesion

    impairment Deafness Hearing defect [ more ] 0000365 Hypoplastic 5th lumbar vertebrae Underdeveloped 5th lumbar vertebrae 0008424 Joint hyperflexibility Joints move beyond[rarediseases.info.nih.gov] […] cardiac anomaly / malformation / cardiopathy - Dry / squaly skin / exfoliation - Facial pain / cephalalgia / migraine - Failure to thrive / difficulties for feeding in infancy[csbg.cnb.csic.es] Clinically, all neonates are hearing impaired from birth and develop diffuse PPK in childhood. Leukonychia and hyperkeratoses over the joints of the hand also appear.[emedicine.medscape.com]

  • Mucopolysaccharidosis 1

    Hearing impairment. Umbilical hernias and inguinal hernias. Joint stiffness and skeletal deformities. Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[patient.info] Physical Examination Appearance Short stature with disproportionately short trunk ( dwarfism ) Skin Thickened skin Excessive body hair growth HEENT Coarse or rough facial[wikidoc.org] nostrils, thickened lips, gingival hyperplasia and facial coarseness).[elsevier.es]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    impairment Sensorineural hearing impairment Depressed nasal bridge Wide nasal bridge Macrocephaly Anteverted nares Congenital onset Micropenis Oxycephaly Abnormality of the[mendelian.co] […] features with thick lips (6) Loose skin (7) HRAS mutations 4.[circ.ahajournals.org] nostrils, long philtrum, thin upper lip and prominent anteverted ears.[ojrd.biomedcentral.com]

  • Geleophysic Dysplasia

    Other individuals may have hearing loss due to an impaired ability of the auditory nerves to transmit sensory input from the ears to the brain (sensorineural hearing loss)[rarediseases.org] We report on two boys with facial anomalies, small hands and feet, joint contractures, thick skin, unusual tiptoe gait and lysosome-like inclusions in the hepatocytes, compatible[ncbi.nlm.nih.gov] The facies were strikingly similar with small nose, anteverted nostrils, broad nasal bridge, and long thin upper lip with flat and long philtrum.[ncbi.nlm.nih.gov]

  • Lenz-Majewski Syndrome

    impairment 0000407 Short stature Decreased body height Small stature [ more ] 0004322 Sparse hair 0008070 Sporadic No previous family history 0003745 Syndactyly Webbed fingers[rarediseases.info.nih.gov] Lenz-Majewski-Like Syndrome: Mesoectodermal dysplasia with macrocephaly, specific facial features (exophthalmos, broad nasal root, anteverted nostrils, large auricles, thick[accessanesthesiology.mhmedical.com] […] that are tipped upward (anteverted nares), large ears, and a small mouth.[rarediseases.org]

  • Growth Hormone Deficiency

    The goal of this study is to evaluate the prevalence, type, and severity of hearing impairment in children with GHD.[ncbi.nlm.nih.gov] However, a nice side benefit is that growth hormone also increases the thickness of the skin.[drmarinajohnson.com] At birth he presented with a broad, fleshy nose with anteverted nostrils, thick and patulous lips, a square chin, curvilinear shaped eyebrows without synophrys, short thorax[ncbi.nlm.nih.gov]

  • Hunermann Conradi Syndrome

    impairment Scoliosis Nystagmus Failure to thrive SOURCES: OMIM ORPHANET MENDELIAN More info about X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA Low match CARDIOFACIOCUTANEOUS[mendelian.co] […] dry skin [5].[cyberleninka.org] (anteverted nares) and malformed (dysplastic) ears.[rarediseases.org]

  • Baraitser Syndrome

    All cases had failure to thrive, microcephaly, ear dysplasia, laryngomalacia, hearing impairment, gastro-esophageal reflux disease, constipation, abnormal dentition, dermatitis[ncbi.nlm.nih.gov] The characteristic facial features of NCBRS include a triangular face, deep-set eyes, a thin nasal bridge, wide nostrils, a pointed nasal tip, and a thick lower lip.[thinkgenetic.com] 80%-99% of people have these symptoms Abnormality of the metacarpal bones Abnormality of the long bone of hand 0001163 Alopecia Hair loss 0001596 Anteverted nares Nasal tip[rarediseases.info.nih.gov]

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