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329 Possible Causes for Dry Skin, High Arched Palate, Low Set Ears, Single Transverse Palmar Crease

  • Down Syndrome

    […] variable from individual to individual and may include mental retardation, retarded growth, flat hypoplastic face with short nose, prominent epicanthic skin folds, small low-set[icd9data.com] […] 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] transverse palmar crease, and short fifth finger with clinodactyly.[dx.doi.org] skin, weight gain, and decreased growth velocity relative to the Down’s syndrome growth chart). 16 For the assessment of growth velocity in relation to thyroid function,[dx.doi.org]

  • Rubinstein-Taybi Syndrome

    […] syn·drome ( rū'bĭn-stīn tā'bē ), mental retardation, broad thumb and great toe, antimongoloid slant to the eyes, thin and beaked nose, microcephaly, prominent forehead, low-set[medical-dictionary.thefreedictionary.com] (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] transverse palmar crease 0000954 Spina bifida occulta 0003298 Sporadic No previous family history 0003745 Stereotypy Repetitive movements Repetitive or self-injurious behavior[rarediseases.info.nih.gov] Prominent and beaked nose, hypoplasia of the maxilla, low-set ears, micrognathia, enamel hypoplasia, talon cusps, highly arched eyebrows and long eyelashes are the most common[symptoma.com]

    Missing: Dry Skin
  • Homocystinuria

    Hyperhidrosis Dry skin with tendency to eczema Vitiligo Flushed cheeks with large pores Livedo reticularis Atrophic scars on arms and hands Telangiectasia What causes homocystinuria[dermnetnz.org] The patient shows some of the facial features that were already reported in the literature (high forehead, large floppy, low-set ears, flat philtrum and hypotonia of perioral[ncbi.nlm.nih.gov] Presentation Skeletal features: Marfanoid habitus with normal to tall stature (occasionally failure to thrive in infancy), fine, brittle hair, hypopigmentation, high arched[patient.info] 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]

    Missing: Single Transverse Palmar Crease
  • Pallister-Killian Syndrome

    The girl has woolly and sparse hair, absence of lateral eyebrows, dry skin, brittle nails, hypopigmented patches, frontal bossing, hearing loss, hypertrophic dilated cardiomyopathy[ncbi.nlm.nih.gov] These abnormalities included webbed neck, low-set ears, lower jaw tooth bud, left simian crease, shield chest, focal aplasia cutis, diaphragmatic hernia, hypoplastic lungs[ncbi.nlm.nih.gov] 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] Clinically PKS is characterized by craniofacial dysmorphism with neonatal frontotemporal alopecia, hypertelorism, and low-set ears as well as kyphoscoliosis, severe intellectual[ncbi.nlm.nih.gov]

  • Gorlin-Chaudhry-Moss Syndrome

    There was the presence of dry skin.[zdoc.site] She also had synophrys, low set ears, a tuft of hair on her nose, cleft tip of the nose, thin upper lip, downtumed corners of the mouth, high arched palate, webbing between[nature.com] Hypo- and microdontia with irregularly spaced teeth and a high arched palate are common features. Clefts of the soft palate has been observed.[disorders.eyes.arizona.edu] Anomalies of the extremities (hypoplastic distal phalanges, small/aplastic nails, cutaneous syndactyly, absent flexion crease of the thumbs, single transverse palmar creases[orpha.net]

  • Turner Syndrome

    Other reported medical findings in Turner syndrome include diabetes, dry skin, high blood pressure, thyroid problems, a small jaw, and a narrow high-arched palate (the top[stanfordchildrens.org] Other characteristics, like widely spaced nipples or low-set ears, also may lead to a suspicion of Turner syndrome.[web.archive.org] Nine patients had a high-arched palate. Nine patients had class II first molar relationship occlusion and one had mesial step-type occlusion.[ncbi.nlm.nih.gov] Symptoms of this condition include decreased energy, dry skin, cold-intolerance, and poor growth.[healthofchildren.com]

    Missing: Single Transverse Palmar Crease
  • Wolf Hirschhorn Syndrome

    […] or dry skin; • Missing teeth; • Cleft palate or cleft lip; and • Abnormalities of the eyes, genitourinary tract, and brain have also been reported.[secure.ssa.gov] ears.[ncbi.nlm.nih.gov] He was described as having ‘Greek helmet appearance’ with hypertelorism, down slanting to palpebral fissures, micrognathia and a high arched palate.[academic.oup.com] [ncbi.nlm.nih.gov] Single Transverse Palmar Crease transverse palmar crease , broad hands, fifth digit clinodactyly), joint hyperflexibility, redundant neck skin, pelvic dysplasia[symptoma.com]

  • Chromosome 6q11-q14 Deletion Syndrome

    Learn more about how to achieve it with Mendelian Learn more Other signs and symptoms that you may find interesting Low-set ears and Malar flattening, related diseases and[mendelian.co] […] anomalies, umbilical hernia, and urinary tract anomalies, as well as characteristic facial features including upslanting palpebral fissures, low-set and/or dysplastic ears, and high-arched[malacards.org] palate (summary by Wang et al., 2009).[ncbi.nlm.nih.gov] arched palate, urinary tract anomalies, and skeletal/limb anomalies. 2009 Wiley‐Liss, Inc.[scipers.com]

  • Kaufman Oculocerebrofacial Syndrome

    ears Low set ears Lowset ears [ more ] 0000369 Motor delay 0001270 Muscular hypotonia of the trunk Low muscle tone in trunk 0008936 Narrow mouth Small mouth 0000160 Neonatal[rarediseases.info.nih.gov] Kaufman type is characterized by psychomotor retardation, microcephaly, upslanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched[orpha.net] […] or other health indicators, associated with mental retardation, microcephaly, a mongoloid slant to the palpebral fissures, microcornea, strabismus, myopia, optic atrophy, high-arched[wellnessadvocate.com] Affiliated tissues include eye , skin and brain , and related phenotypes are hypertelorism and low-set ears Genetics Home Reference : 25 Kaufman oculocerebrofacial syndrome[malacards.org]

    Missing: Dry Skin
  • Noonan Syndrome

    skin) Bleeding diathesis Lymphatic dysplasia Characteristic facial features (especially ptosis and/or hypertelorism) Recommended testing strategy Tests below can be ordered[unmc.edu] . - It is difficult to look high in the sky at noon, therefore everything is down in NOONan syndrome- Low set ears, Downslanting eyes, Low posterior hair line, Low levels[medicowesome.com] Noonan syndrome is an autosomal, dominantly inherited disease; it is physically characterized by short stature, short neck, webbed neck, abnormal auricles, high arched palate[ncbi.nlm.nih.gov] 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]

    Missing: Single Transverse Palmar Crease

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