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135 Possible Causes for Bulbous Nose, Hypoplastic Toenails

  • Lethal Neonatal Carnitine Palmitoyl Transferase II Deficiency

    toenails.[genome.jp] nose 10 HP:0001640 Cardiomegaly 11 HP:0001640 Cardiomegaly hallmark 12 HP:0000518 Cataract NAMDC: Cataracts 13 HP:0002514 Cerebral calcification typical 14 HP:0008315 Decreased[mseqdr.org] toenails, microcephaly, agenesis of corpus callosum, polymicrogyria and cerebral calcifications. [6] Babies could appear lethargic and hypotonic soon after birth as in the[jcnonweb.com]

  • Trisomy 9

    toenails.[ncbi.nlm.nih.gov] A recognizable trisomy 9 phenotype was identified and included a "bulbous" nose, microphthalmia, and dislocated limbs.[ncbi.nlm.nih.gov] Manifestations such as microcephaly, prominent nasal root, bulbous nose, and down-turned corners of the mouth are common to patients with trisomic segments extending from[ncbi.nlm.nih.gov]

  • Trisomy 4p

    […] fingernails * Hypoplastic toenails * Small penis * Hypospadias * Undescended testes * Kyphoscoliosis * Hypoplastic nipples * Widely spaced nipples * Absent ribs * Additional[checkorphan.org] nose with flat or depressed nasal bridge, retrognathia, pointed chin, short neck with low hairline, enlarged ears with abnormal helix and antihelix, rocker-bottom feet with[ncbi.nlm.nih.gov] Some affected infants may also have unusually long, slender fingers or toes (arachnodactyly) or underdeveloped (hypoplastic) fingernails and toenails.[rarediseases.org]

  • Hypohidrotic Ectodermal Dysplasia

    toenails 60 33 hallmark (90%) Very frequent (99-80%) HP:0001800 4 abnormality of the fingernails 60 33 hallmark (90%) Very frequent (99-80%) HP:0001231 5 abnormality of dental[malacards.org] Facial features: Hypertelorism, bulbous nose, low-set ears. Hands anomalies: Postaxial polydactyly. Feet anomalies: Postaxial polydactyly.[vivavoceoralmedicineradiology.com] toenails Underdeveloped toenails 0001800 Onycholysis Detachment of nail 0001806 Yellow-brown discoloration of the teeth Yellow-brown discolored teeth 0006286 30%-79% of people[rarediseases.info.nih.gov]

  • BOD Syndrome

    toenails Underdeveloped toenails 0001800 Long philtrum 0000343 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head[rarediseases.info.nih.gov] An individual with mosaic trisomy 9 had features resembling Coffin-Siris syndrome, including facial features (wide, bulbous nose), hirsutism, and hypoplasia of the fifth digits[bredagenetics.com] Figure 1: Frontal view photograph showed (a) typical coarse faces (microcephaly, thick and long eye brows, wide mouth, and bulbous nose); (b) synophres; (c) malocclusion Click[annalspc.com]

  • Dubowitz Syndrome

    toenails Underdeveloped toenails 0001800 Joint hyperflexibility Joints move beyond expected range of motion 0005692 Lymphoma Cancer of lymphatic system 0002665 Malabsorption[rarediseases.info.nih.gov] He had a bulbous nose. There was freckling across his nose and under his eyes.[journals.plos.org] toenails Joint hyperflexibility Lymphoma Malabsorption Metatarsus adductus Myopia Nystagmus Pectus excavatum Rectal prolapse Sacral dimple Scoliosis Seizures Spina bifida[dovemed.com]

  • Winchester Syndrome

    […] fifth fingernails and toenails , see Coffin-Siris syndrome mental retardation with hypotonia and facial dysmorphism , see KCNK9 imprinting syndrome Mental retardation with[herenciageneticayenfermedad.blogspot.com] nose - Thick lips - Thick skin / pachydermia / orange skin - Thickened / hypertrophic / fibromatous gingivae Occasional - Atrial septal defect / interauricular communication[csbg.cnb.csic.es] Coarsening of facial features, bulbous nose, proptosis, strabismus, and gingival hypertrophy have been observed in several affected individuals [ Bhavani et al 2016 ].[ncbi.nlm.nih.gov]

  • Absent Thumb - Short Stature - Immunodeficiency Syndrome

    Physical features can include an abnormally shaped head with a prominent occiput, low-set ears, micrognathia, short sternum, characteristic clenched fists, hypoplastic toenails[hawaii.edu] […] growth and mental retardation, triangular face, prominent glabella, hypotelorism, bulbous nose, high arch palate, short neck, scoliosis, long slender hands/feet, genu valgum[chr7.org] He had a bulbous nose. There was freckling across his nose and under his eyes.[journals.plos.org]

  • Patau Syndrome

    : Bent, narrow and partially hypoplastic (underdeveloped) Malformations and malpositions Polydactylia : Presence of additional fingers Rock bottom feet Sandal gap : Wide spacing[flexikon.doccheck.com] Some of these anomalies are listed here: Craniofacial defects Scalp defects Low-set ears Cleft lip Cleft palate Bulbous nose Hypotelorism Micrognathia Limb defects Polydactyly[symptoma.com] […] hypoplasia ) Low set and abnormally formed ( dysplastic ) ears Malformation of the extremitites Conspicuous dermal ridges Simian fold : In about 75% of cases Finger- and toenails[flexikon.doccheck.com]

  • Autosomal Dominant Prognathism

    toenails Abnormality of dental morphology Polycystic ovaries Abnormality of the fingernails Abnormality of the nail Fine hair Branchial sinus Conical tooth Concave nail Toenail[mendelian.co] IS Retinoblastoma-1 RB1 13q14.1-q14.2 180200 Retinoblastoma 180200 AD cleft palate, high forehead, prominent eyebrows, broad nasal bridge, bulbous tip of the nose, large[en.wikibooks.org] […] atresia Everted upper lip vermilion Postauricular pit Fusion of middle ear ossicles Lacrimal duct stenosis Small nail Fragile nails Agenesis of permanent teeth Ovarian cyst Hypoplastic[mendelian.co]

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