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421 Possible Causes for Epicanthal Folds, High Arched Palate

  • Homocystinuria

    The patient also shows signs that had not been previously described: epicanthal folds, broad nasal bridge, long and flat philtrum, amimic expression and, particularly, a postural[ncbi.nlm.nih.gov] Long, thin fingers, tall stature, and a high arched palate are seen in some individuals and the hair is often lightly pigmented.[disorders.eyes.arizona.edu] Presentation Skeletal features: Marfanoid habitus with normal to tall stature (occasionally failure to thrive in infancy), fine, brittle hair, hypopigmentation, high arched[patient.co.uk]

  • Turner Syndrome

    Clinically, patients with Turner syndrome are short, and they have a small chin, prominent folds of skin at the inner corners of the eyes (epicanthal folds), low-set ears,[britannica.com] Serous otitis media is more common, probably because of low anatomic drainage of the middle ear, that may be because of high-arched palate.[symptoma.com] folds can be present; red-green color blindness Ears: Serous otitis media is more common [4] ; the auricles may be posteriorly rotated or low set; hearing loss due to otosclerosis[emedicine.medscape.com]

  • Pallister-Killian Syndrome

    folds large ears with lobes that are thick and protrude outward.[en.wikibooks.org] Oro-dental features, such as "Pallister lip," macroglossia, delayed eruption of primary teeth, high arched-palate, prognathism, and cleft palate have been occasionally reported[ncbi.nlm.nih.gov] Patients also exhibit a distinctive facial structure, characterized by high foreheads, sparse hair on the temple, a wide space between the eyes, epicanthal folds and a flat[popflock.com]

  • Down Syndrome

    folds, flattened nasal bridge, broad hands with short fingers, decreased muscle tone, and by trisomy of the human chromosome numbered 21 — called also Down, Down's, trisomy[merriam-webster.com] Mouth: Protruding tongue (small narrow palate). High arched palate. Neck: Loose skin on nape of neck. Hands: Single palmar crease. Short little finger.[patient.info] […] characteristic craniofacial features, such as an anteriorly and posteriorly flattened head, dysplastic low-set ears, small nose, depressed nasal bridge, protruding tongue, high-arched[symptoma.com]

  • Noonan Syndrome

    ., epicanthal folds, ptosis, ocular hypertelorism), and micrognathia. Individuals with Noonan syndrome often may have either pectus excavatum or pectus carinatum.[symptoma.com] Children may have webbing of the neck, low-set ears, droopy eyelids, widely spaced eyes, shortened fourth (ring) fingers, a high-arched palate, and heart and blood vessel[merckmanuals.com] There may be ptosis, epicanthic folds and low-set ears. Facial features are easiest to recognise in the infant or young child.[patient.info]

  • Kaufman Oculocerebrofacial Syndrome

    folds * thin or bare eyebrows * flat upper lip groove...[signssymptoms.org] Kaufman type is characterized by psychomotor retardation, microcephaly, upslanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched[orpha.net] folds * Thin or bare eyebrows * Flat upper lip groove Causes Kaufman Oculocerebrofacial syndrome is an idiopathic disorder; meaning it has no known cause.[signssymptoms.org]

  • Dubowitz Syndrome

    Ocular problems occur in about 20%: strabismus, blefarophimosis, ptosis, telecanthus and epicanthal folds being the most frequent ones.[ncbi.nlm.nih.gov] The mouth can have a high arched palate , submucous cleft palate , or velopharyngeal insufficiency.[dubowitzsyndrome.net] Abstract Dubowitz syndrome is an autosomal recessive condition characterized by pre- and postnatal growth retardation, eczema, telecanthus, epicanthal folds, blepharophimosis[ncbi.nlm.nih.gov]

  • 3q13.31 Microdeletion Syndrome

    folds * Large mouth * Short upper lip * Cleft lip * Cleft palate * Short neck * Accessory nipples * Short hands * Stubby hands * Short feet * Stubby feet * Camptodactyly[checkorphan.org] arched palate, and recognisable facial features including a short philtrum and protruding lips.[ncbi.nlm.nih.gov] […] philtrum, high arched palate, large ears, crowded teeth, soft enamel Prominent/broad forehead, high arched palate, large fleshy ears, pointed chin Absent eyebrows, epicanthal[molecularcytogenetics.biomedcentral.com]

  • Rubinstein-Taybi Syndrome

    […] of skin on either side of the nose that may cover the eyes’ inner corners (epicanthal folds).[rarediseases.org] (RTS) is a rare disorder affecting 1 of 300,000 people, characterized by growth, mental and motor retardation, small stature, broad thumbs and toes, characteristic face, high-arched[ncbi.nlm.nih.gov] folds on eyes Malocclusion of teeth (crooked teeth) Talon cusps on the teeth (see photo below) Mild forms of RTS Although RTS patients are said to typically have moderate[forgottendiseases.org]

  • Pentasomy X

    She had epicanthal folds, long philtrum, high-arched palate, facial asymmetry, short webbed neck, low posterior hairline, mild scoliosis, cubitus valgus, mental retardation[ncbi.nlm.nih.gov] Other characteristics are microcephaly, poorly formed ears, wide-spaced eyes and epicanthal folds.[coursehero.com] The patient had a characteristic round face, a low hairline, hypertelorism, epicanthus, a long philtrum, high-arched palate, short and webbed neck, small hands and feet, clinodactyly[scholars.northwestern.edu]

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