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75 Possible Causes for Everted Lips, Hearing Impairment, Thick Facial Skin

  • Mucopolysaccharidosis 2

    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] They also had characteristic features of Hunter syndrome such as stunted growth, coarse facial features (large forehead, thick neck, tongue and lips, bushy eyebrows, and flattened[mjdrdypu.org]

  • 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] Surgical incision in the eardrum can correct hearing impairment. In order to avoid complications, surgery has also been recommended for all inguinal hernias.[patienthelp.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] Facial features include prominent forehead, widespread eyes, downslanting eyeslits, prominent ears, thick lips and irregular/missing teeth.[medicinenet.com] lips with wide mouth and progressive skeletal changes: scoliosis, spondylolisthesis and pectus excavatum.[ncbi.nlm.nih.gov]

  • Phakomatosis Pigmentokeratotica

    PubMed CrossRef Google Scholar Onsun N, Inandirici A, Kural Y, Teker C, Atilganoglu U (2007) Phakomatosis pigmentovascularis type II b with bilateral hearing impairment.[link.springer.com] . – Salon Méditerranée Management of Giant Naevi of the Face: Review of 44 Cases Treated by Full Thickness Skin Graft, in One Stage or after Expansion 16:50 Clemens Schiestl[cmnexperts.org] […] lower lip-outstanding ears syndrome X-linked congenital generalized hypertrichosis X-linked dominant chondrodysplasia punctata Xanthoma disseminatum[se-atlas.de]

  • Woodhouse Sakati Syndrome

    The syndrome is characterized by alopecia, mental retardation, hypogonadism, diabetes mellitus, hearing impairment, ECG changes, and by autosomal recessive inheritance.[ncbi.nlm.nih.gov] […] patches of thick, darker, velvety skin .[maria-online.com] […] lower lip and outstanding ears Advanced sleep phase syndrome, familial Primary carnitine deficiency Cone dystrophy Trismus-pseudocamptodactyly syndrome Combined oxidative[checkrare.com]

  • Amelo-Onycho-Hypohidrotic Syndrome

    impairment Wide nose Cataract Visual loss Photophobia Acanthosis nigricans Dry skin Eczema Abnormality of skin pigmentation Keratoconjunctivitis sicca ... ...[familydiagnosis.com] , thick lips, and a flattened bridge of the nose.[icdlist.com] […] lower lip vermilion 60 33 occasional (7.5%) Occasional (29-5%) HP:0000232 15 seborrheic dermatitis 33 HP:0001051 16 abnormality of the hair 33 HP:0001595 17 abnormality of[malacards.org]

  • Baraitser Syndrome

    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] […] lower lip vermilion Drooping lower lip Outward turned lower lip [ more ] 0000232 Global developmental delay 0001263 High, narrow palate Narrow, high-arched roof of mouth[rarediseases.info.nih.gov] All cases had failure to thrive, microcephaly, ear dysplasia, laryngomalacia, hearing impairment, gastro-esophageal reflux disease, constipation, abnormal dentition, dermatitis[ncbi.nlm.nih.gov]

  • Autosomal Dominant Prognathism

    hearing impairment Flexion contracture Depressed nasal bridge Posteriorly rotated ears Myopia Intellectual disability, mild Malar flattening Ridged nail Positional foot deformity[mendelian.co] (Everted lower lip vermilion) ... ...[familydiagnosis.com] Association with mildly everted lower eyelids, flat malar area, thickened lower lip and craniosynostosis has been reported.[orpha.net]

  • Kabuki Syndrome

    Recurrent otitis media (12/14) and hearing impairment (8/14) were also more common features.[ncbi.nlm.nih.gov] […] features (e.g., arched eyebrows, thick eyelashes, etc.), skeletal abnormalities, and ridges on the skin.[hcpro.com] Variable orodental anomalies were seen in all the patients with an everted lower lip found in four patients (57.1%).[ncbi.nlm.nih.gov]

  • Lenz-Majewski Syndrome

    Lenz-Majewski-Like Syndrome: Mesoectodermal dysplasia with macrocephaly, specific facial features (exophthalmos, broad nasal root, anteverted nostrils, large auricles, thick[accessanesthesiology.mhmedical.com] […] lower lip vermilion Anxiety Flat face Micromelia Genu valgum Arthrogryposis multiplex congenita Irritability Attention deficit hyperactivity disorder Apnea Blepharophimosis[mendelian.co] 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]

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