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168 Possible Causes for Hypoplastic Toenails, Small Face

  • 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] For example, many people affected by the disease have a small face and head. Sometimes they have a high forehead that slopes as well.[wisegeek.net] toenails Joint hyperflexibility Lymphoma Malabsorption Metatarsus adductus Myopia Nystagmus Pectus excavatum Rectal prolapse Sacral dimple Scoliosis Seizures Spina bifida[dovemed.com]

  • 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] People with this disorder have a distinctive facial appearance including a small mouth (microstomia) with pursed lips, giving the appearance of a whistling face, so also called[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] […] stature face anomalies Brachydactyly Smorgasbord type Brachydactyly tibial hypoplasia Brachydactyly type a1 Brachydactyly type a2 Brachydactyly type a3 Brachydactyly type[bioreference.net] […] stature face anomalies Brachydactyly Smorgasbord type Brachydactyly t Brachydactyly tibial hypoplasia Brachydactyly type A1 Brachydactyly type A2 Brachydactyly type A3 Brachydactyly[wikidoc.org]

  • Trisomy 9

    toenails.[ncbi.nlm.nih.gov] The salient clinical features observed were small face, wide fontanel, prominent occiput, micrognathia, low set ears, upslanting palpebral fissures, high arched palate, short[ncbi.nlm.nih.gov] An infant with complete trisomy 9 surviving 20 days after birth showed clinical features including a small face, wide fontanelle, prominent occiput, micrognathia, low set[en.wikipedia.org]

  • Schneckenbecken Dysplasia

    […] meninges; (c) extremely small thoracic cage; (d) typical babygram X-ray scan of a patient with a case of osteogenesis imperfecta type II.[scielo.br] toenails Occasionally present symptoms in 5-29% of the cases: In addition to the above, the following signs and symptoms may be present: Anterior rib cupping Advanced ossification[dovemed.com] toenails Underdeveloped toenails 0001800 5%-29% of people have these symptoms Accelerated skeletal maturation Advanced bone age Early bone maturation [ more ] 0005616 Advanced[rarediseases.info.nih.gov]

  • 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] The child may have a small face and a large skull. Serious health problems always exist, however the nature and severity of these problems may differ in every child.[het-palet.com] When this happens it can affect facial features and cause defects, such as: cleft lip and palate an abnormally small eye or eyes (microphthalmia) absence of 1 or both eyes[nhs.uk]

  • Ehlers-Danlos Syndrome Spondylodysplastic Type 2

    toenails Hemiplegia/hemiparesis Recurrent skin infections Urticaria Reduced tendon reflexes Neoplasm of the skin Conjunctivitis Visual loss Macule Aganglionic megacolon Skin[mendelian.co] […] hypoplasia, low-set ears, small mouth, and defective enamel.[cags.org.ae] face Gingivitis Genu recurvatum Short clavicles Proportionate short stature Atrophic scars Bilateral cryptorchidism Radioulnar synostosis Accelerated skeletal maturation[mendelian.co]

  • Trisomy 4p

    […] fingernails * Hypoplastic toenails * Small penis * Hypospadias * Undescended testes * Kyphoscoliosis * Hypoplastic nipples * Widely spaced nipples * Absent ribs * Additional[checkorphan.org] […] asymmetric eyes, small ears, a short neck, finger/toe abnormalities, and behavioral problems.[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]

  • Lethal Neonatal Carnitine Palmitoyl Transferase II Deficiency

    toenails.[genome.jp] […] hand Hirsutism Short palm Flat face Lymphadenopathy Malabsorption Broad forehead Microtia Short philtrum Camptodactyly of finger Conductive hearing impairment Hypertonic[mendelian.co] 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]

  • 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] Bossing of the frontal, occipital and parietal regions give the skull a large globular shape with a small face.[amhsr.org] Clinical features: Patients with Downs syndrome are characterised by flat face, a large anterior fontanel,open sutures,small slanting eyes with epicanthal folds,open mouth[slideshare.net]

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