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256 Possible Causes for Coarse Facial Features, Round Face

  • Mucopolysaccharidosis

    facial features, developmental delay, and an elevated quantitative urine glycosaminoglycan (GAG) level.[ncbi.nlm.nih.gov] The patient had severe infantile global neurodevelopmental delays, macrocephaly with a prominent forehead, coarse facial features with clear corneas, chronic congestion with[ncbi.nlm.nih.gov] He did not develop coarse facial features, joint disease, or organomegaly, and his cardiac function remained normal.[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 2

    Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[secure.ssa.gov] There are some obvious physical signs of Hunter syndrome, such as coarse facial features and an enlarged liver and spleen, as well as some less noticeable symptoms. 2 Symptoms[rare2aware.com] Figure 1: shows Coarse facial features with depressed nasal bridge, a short neck, long philtrum.[omicsonline.org]

  • Mucopolysaccharidosis 1

    Further common findings are coarse facial features, carpal tunnel syndrome, umbilical and inguinal hernia, and hepatomegaly.[symptoma.com] facial features Communicating hydrocephalus (fluid on the brain) Abnormally shaped teeth Life expectancy Life expectancy varies significantly for people with MPS I.[mps1disease.com] Patients may also have coarse facial features, although this is usually milder than that seen in MPSI or MPSII.[genedx.com]

  • Spondyloepiphyseal Dysplasia, Cantu Type

    : long philtrum round face midface hypoplasia coarse facies Skeletal Hands: brachydactyly short hands small carpals short, tapered phalanges single interphalangeal crease[malacards.org] Growth Other: growth retardation, progressive Voice: high-pitched, coarse voice Chest Ribs Sternum Clavicles And Scapulae: pectus excavatum thickened clavicles Head And Neck Face[malacards.org]

  • Fabry Disease

    Round-robin slide reviews and two face-to-face scoring sessions with a modified Delphi technique [ 23 ] were used to refine the scoring system.[ncbi.nlm.nih.gov] Often patients have slight builds with characteristic coarse facial features and delayed puberty.[patient.info] The patient is 10 years old and presents severe mental handicap, coarse face, hepatosplenomeagly, dysostosis multiplex, joint contractures, obstructive airway disease, mitral[ncbi.nlm.nih.gov]

  • Adrenocortical Carcinoma

    Symptoms of increased cortisol or other adrenal gland hormones may include: Fatty, rounded hump high on the back just below the neck ( buffalo hump ) Flushed, rounded face[nlm.nih.gov] Symptoms Symptoms of increased cortisol or other adrenal gland hormones may include: Fatty, rounded hump high on the back just below the neck ( buffalo hump ) Flushed, rounded[ufhealth.org] face with pudgy cheeks ( moon face ) Obesity Stunted growth ( short stature ) Virilization -- the appearance of male characteristics, including increased body hair (especially[ufhealth.org]

  • Simpson Dysmorphia Syndrome

    , round face, hypoplastic supraorbital ridge, epicanthus, cleft palate TM Diastrophic dysplasia sulfate transporter DTDST 5q32-q33.1 222600 Diastrophic dysplasia 222600 AR[widesmiles2.org] facial features, widely spaced eyes, a short nose with anteverted nares, gingival overgrowth, a wide mouth, short limbs with short distal phalanges, and a small penis.[zora.uzh.ch] -round face -hypoplastic supraorbital ridge -epicanthus -cleft palate describe diastrophic dysplasia -autosomal recessive -hypertrophic auricular cartilage -cleft palate[brainscape.com]

  • Congenital Muscular Dystrophy

    If severe it may manifest later as Cretinism characterized by coarse facial features, mental retardation etc.[news-medical.net]

  • Juvenile Myxedema

    Clinical features    Stature Shortened finger Osteoma cutis ORAL MANIFESTATIONS   Facial features-mid facial hypoplasia, the face is rounded in appearance Teeth- generalized[slideshare.net]

  • Neuhauser Syndrome

    Face Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations[rgd.mcw.edu] The patients have a peculiar face by specific craniofacial anomalies: round face, wide prominent forehead, hypertelorism, broad nasal bridge, bulbous nose, wide philtrum nasolabial[ncbi.nlm.nih.gov] Facial features included a round face, low frontal hairline, mild frontal bossing, broad nasal bridge, large corneas, mild hypertelorism, long upper lip, high palate, and[omim.org]

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