Create issue ticket

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[] […] characteristic craniofacial features, such as an anteriorly and posteriorly flattened head, dysplastic low-set ears, small nose, depressed nasal bridge, protruding tongue, high-arched[] transverse palmar crease, and short fifth finger with clinodactyly.[] 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,[]

  • 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[] (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[] transverse palmar crease 0000954 Spina bifida occulta 0003298 Sporadic No previous family history 0003745 Stereotypy Repetitive movements Repetitive or self-injurious behavior[] 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[]

    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[] 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[] Presentation Skeletal features: Marfanoid habitus with normal to tall stature (occasionally failure to thrive in infancy), fine, brittle hair, hypopigmentation, high arched[] Long, thin fingers, tall stature, and a high arched palate are seen in some individuals and the hair is often lightly pigmented.[]

    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[] These abnormalities included webbed neck, low-set ears, lower jaw tooth bud, left simian crease, shield chest, focal aplasia cutis, diaphragmatic hernia, hypoplastic lungs[] Oro-dental features, such as "Pallister lip," macroglossia, delayed eruption of primary teeth, high arched-palate, prognathism, and cleft palate have been occasionally reported[] Clinically PKS is characterized by craniofacial dysmorphism with neonatal frontotemporal alopecia, hypertelorism, and low-set ears as well as kyphoscoliosis, severe intellectual[]

  • Gorlin-Chaudhry-Moss Syndrome

    There was the presence of dry skin.[] 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[] Hypo- and microdontia with irregularly spaced teeth and a high arched palate are common features. Clefts of the soft palate has been observed.[] Anomalies of the extremities (hypoplastic distal phalanges, small/aplastic nails, cutaneous syndactyly, absent flexion crease of the thumbs, single transverse palmar creases[]

  • 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[] Other characteristics, like widely spaced nipples or low-set ears, also may lead to a suspicion of Turner syndrome.[] Nine patients had a high-arched palate. Nine patients had class II first molar relationship occlusion and one had mesial step-type occlusion.[] Symptoms of this condition include decreased energy, dry skin, cold-intolerance, and poor growth.[]

    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.[] ears.[] He was described as having ‘Greek helmet appearance’ with hypertelorism, down slanting to palpebral fissures, micrognathia and a high arched palate.[] [] Single Transverse Palmar Crease transverse palmar crease , broad hands, fifth digit clinodactyly), joint hyperflexibility, redundant neck skin, pelvic dysplasia[]

  • 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[] […] 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[] palate (summary by Wang et al., 2009).[] arched palate, urinary tract anomalies, and skeletal/limb anomalies. 2009 Wiley‐Liss, Inc.[]

  • 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[] Kaufman type is characterized by psychomotor retardation, microcephaly, upslanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched[] […] or other health indicators, associated with mental retardation, microcephaly, a mongoloid slant to the palpebral fissures, microcornea, strabismus, myopia, optic atrophy, high-arched[] Affiliated tissues include eye , skin and brain , and related phenotypes are hypertelorism and low-set ears Genetics Home Reference : 25 Kaufman oculocerebrofacial syndrome[]

    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[] . - 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[] Noonan syndrome is an autosomal, dominantly inherited disease; it is physically characterized by short stature, short neck, webbed neck, abnormal auricles, high arched palate[] 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[]

    Missing: Single Transverse Palmar Crease

Similar symptoms