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43 Possible Causes for Coxa Valga, Hearing Impairment, Thick Facial Skin

  • Mucopolysaccharidosis 1H

    Hearing impairment. Mental retardation. Inguinal hernias. Joint stiffness and skeletal deformities Coronary heart disease. Hepatosplenomegaly.[medigoo.com] The epiphyseal centers are not well developed, the pelvis is poorly formed with small femoral heads and coxa valga.[themedicalbiochemistrypage.org] […] 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]

  • Coffin-Lowry Syndrome

    Audiological tests revealed profound hearing impairment. Anomalous labyrinths were shown by CT scan of the temporal bones.[ncbi.nlm.nih.gov] […] color of hands, feet, or parts of face 0001063 Bifid sternum 0010309 Broad palm Broad hand Broad hands Wide palm [ more ] 0001169 Coarse hair Coarse hair texture 0002208 Coxa[rarediseases.info.nih.gov] Facial features include prominent forehead, widespread eyes, downslanting eyeslits, prominent ears, thick lips and irregular/missing teeth.[medicinenet.com]

  • Mucopolysaccharidosis 1

    Hearing impairment. Umbilical hernias and inguinal hernias. Joint stiffness and skeletal deformities. Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[patient.info] valga, and flaring of the lower ribs.[genedx.com] Physical Examination Appearance Short stature with disproportionately short trunk ( dwarfism ) Skin Thickened skin Excessive body hair growth HEENT Coarse or rough facial[wikidoc.org]

  • Fucosidosis

    Other signs related to fucosidosis include visceromegaly that can affect the spleen, liver, and heart, epilepsy, hearing impairment or total hearing loss, kyphoscoliosis,[symptoma.com] The epiphyseal centers not well developed, the pelvis is poorly formed with small femoral heads and coxa valga.[themedicalbiochemistrypage.org] The primary symptoms of Fucosidosis – Type 1 include developmental delays, mental retardation, overall weakness, poor muscle tone, thick skin, rough facial features and excessive[disability-benefits-help.org]

  • Mucopolysaccharidosis 2

    The symptoms usually include hearing impairment, carpal tunnel syndrome, joint stiffness, discrete corneal opacities, and papilledema.[icd10data.com] valga (a hip deformity in which the angle formed between the head and neck of the femur and its shaft is increased, usually above 135 ) Oar-shaped ribs (narrow at the vertebrae[emedicine.medscape.com] Patients with MPS II typically exhibit systemic manifestations including a short stature, a specific facial appearance, dysostosis multiplex, a thick skin, inguinal hernia[journals.plos.org]

  • 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] These lesions were not painful but progressed to marked coxa valga. An osteotomy was performed at 9 years.[nature.com] […] cardiac anomaly / malformation / cardiopathy - Dry / squaly skin / exfoliation - Facial pain / cephalalgia / migraine - Failure to thrive / difficulties for feeding in infancy[csbg.cnb.csic.es]

  • Acroosteolysis-Keloid-Like Lesions-Premature Aging Syndrome

    Developmental retardation with unusual facies, arthritis,and hearing impairment. Dysmorph Clin Genet 4:103109.CoroneoMT, Chui JJY. 2013.[docslide.com.br] A protruding abdomenand poor muscle development were also evident.She had coxa valga, joint stiffness of the knees, andthin limbs.[documents.tips] […] lips, stunted growth, bird-like legs, mental retardation Dermatologic a 123:227–243, 1961 Branchio-oculo-facial syndrome – linear atrophic patches of neck, ears, eyes, mouth[yumpu.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] valga 0002673 Global developmental delay 0001263 Hepatomegaly Enlarged liver 0002240 High pitched voice 0001620 Hypoplasia of the capital femoral epiphysis Small innermost[rarediseases.info.nih.gov] 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]

  • 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] 30% cases Abnormality of the metacarpal bones Malar flattening External genital hypoplasia Dysphonia Joint laxity Premature skin wrinkling Normal pressure hydrocephalus Coxa[mendelian.co] Lenz-Majewski-Like Syndrome: Mesoectodermal dysplasia with macrocephaly, specific facial features (exophthalmos, broad nasal root, anteverted nostrils, large auricles, thick[accessanesthesiology.mhmedical.com]

  • 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] . - Flared iliac bones with a flattened acetabulum and coxa valga deformity. - Long bone cortical thinning with flared metaphyseal regions Erlenmeyer deformity (distal femur[clinicaladvisor.com] […] features with thick lips (6) Loose skin (7) HRAS mutations 4.[circ.ahajournals.org]

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