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34 Possible Causes for Hearing Impairment, Mild Dwarfism, Thick Facial Skin

  • Mucopolysaccharidosis 2

    Symptoms may include DWARFISM, hepatosplenomegaly, gargoyle-like facies, corneal clouding, cardiac complications, and noisy breathing.[hon.ch] The symptoms usually include hearing impairment, carpal tunnel syndrome, joint stiffness, discrete corneal opacities, and papilledema.[icd10data.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]

  • Mucopolysaccharidosis 1

    Symptoms may include dwarfism, hepatosplenomegaly, gargoyle-like facies, corneal clouding, cardiac complications, and noisy breathing.[icd10data.com] 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]

  • Lytic Bone Lesion

    Enteropathica Acrodermatitis, Infantile Lichenoid Acrodermatitis, Papular Infantile Acrodysostosis Acrofacial Dysostosis, Nager Type acrogeria, Gottron type Acromegaly Acromesomelic Dwarfism[healthmedicinet.com] 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]

  • Mucopolysaccharidosis 1H

    Symptoms may include DWARFISM , hepatosplenomegaly, gargoyle-like facies, corneal clouding, cardiac complications, and noisy breathing.[hon.ch] 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]

  • Mucopolysaccharidosis 3

    Symptoms may include DWARFISM , hepatosplenomegaly, gargoyle-like facies, corneal clouding, cardiac complications, and noisy breathing.[hon.ch] impairment Deafness Hearing defect If a carrier of MPS IIIA is concerned about having an affected child, his/her partner can be screened for the most common mutations known[rarediseases.info.nih.gov] Prominent foreheads, large head circumferences, Coarse thick hair, bushy eyebrows, Thick skin, Full lips, Low thick ears, Low nasal bridge, Full round bellies.[phoenixnestbiotech.com]

  • Hypothyroidism

    However, in many cats with mild iatrogenic hypothyroidism, very mild or no obvious clinical signs are seen.[merckmanuals.com] Hearing impairment in CH is of considerable interest.[ncbi.nlm.nih.gov] […] expression, dementia or frank psychosis (myxedema madness) Dermatologic manifestations: Facial puffiness; myxedema; sparse, coarse and dry hair; coarse, dry, scaly and thick[merckmanuals.com]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    dwarfism, and other skeletal disorders Mucopolysaccharidosis with excessive chondroitin sulfate b in urine, characterized by dwarfism and deafness; caused by a deficiency[icd9data.com] 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]

  • Lenz-Majewski Syndrome

    A Japanese patient with a mild Lenz-Majewski syndrome. J Hum Genet. 2007; 52: 686-9. 6.[jpma.org.pk] 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]

  • X-Linked Syndromic Intellectual Disability Type Schimke

    Skeletal Multiple synostosis syndrome Skeletal Nail Patella syndrome Skeletal Oculodentodigital dysplasia (ODDD) Skeletal Orofaciodigital syndrome Skeletal Osteoarthritis with mild[gdnm.nl] impairment Deafness Hearing defect [ more ] 0000365 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more[rarediseases.info.nih.gov] […] pigmentation Mutism Dry skin Deeply set eye Combined immunodeficiency Ataxia Coarse facial features Gastroesophageal reflux Thin vermilion border Malabsorption Pes planus[mendelian.co]

  • Postaxial Oligodactyly, Tetramelic

    Orthopedic treatment aims at correcting the leg length discrepancy, and, in bilateral cases, correcting the asymmetrical dwarfism.[dysnet.org] Depressed nasal bridge Cataract Abnormal facial shape Ptosis Motor delay Sensorineural hearing impairment Micrognathia Behavioral abnormality Thrombocytopenia Hearing impairment[mendelian.co] impairment Midface retrusion High palate Intellectual disability, severe Anteverted nares Short nose Highly arched eyebrow Micropenis Pneumonia Delayed eruption of teeth[mendelian.co]

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