Create issue ticket

175 Possible Causes for Down Syndrome, Hypertelorism, Microstomia

  • Down Syndrome

    […] about Down syndrome.[cdc.gov] syndrome Down's syndrome - trisomy 21 Down's syndrome trisomy 21 syndrome Complete trisomy 21 syndrome (disorder) G Trisomy Complete trisomy 21 syndrome edit Language Label[wikidata.org] […] families of children with Down syndrome.[cdc.gov]

  • DiGeorge Syndrome

    […] with Down syndrome used 11 consonants.[doi.org] In the orofacial area, hypertelorism, a short philtrum, thick and reflected lips, and hypoplasia of the nasopharynx were also observed.[ncbi.nlm.nih.gov] The second case involved heart disease, microstomia, round and rotated ears and branchial cyst. Total T-lymphocytes were 38% and total T4-lymphocytes 27%.[ncbi.nlm.nih.gov]

  • Trisomy 18

    RESULTS: At 1 in 800 term risk cut-offs for Down's syndrome, trisomy 18, and trisomy 13, an estimated 10% of women are reflexed to DNA screening, yielding a 91% Down's syndrome[ncbi.nlm.nih.gov] At 19 weeks' gestation a follow-up scan revealed, apart from the resolution of septated cystic hygroma, hypertelorism, a large interventricular septum defect with an atrio-ventricular[ncbi.nlm.nih.gov] Note microphthalmia, micrognathia/retrognathia, microstomia, low set/malformed ears, short sternum, and abnormal clenched fingers.[web.archive.org]

  • Freeman-Sheldon Syndrome

    The embryonic myosin isoform is expressed during fetal development and rapidly down-regulated after birth.[ncbi.nlm.nih.gov] […] facial characteristics; skeletal malformations include camptodactyly with ulnar deviation, talipes equinovarus, while the facial characteristics include deep-sunken eyes with hypertelorism[ncbi.nlm.nih.gov] Abstract In this report, we describe a case of microstomia associated with club feet and ulnar deviation of the hands (Freeman-Sheldon syndrome) and the surgical technique[ncbi.nlm.nih.gov]

  • Mosaic Trisomy 1

    Down vs. Down’s NDSS uses the preferred spelling, Down syndrome, rather than Down’s syndrome.[ndss.org] […] revealed abnormal skin pigmentation covering the bilateral ankle area to the buttock area following the Blaschkos line, a high arched palate, and dysmorphic facies with hypertelorism[ashg.org] Furthermore, they also have small eyes (microphthalmia), malformed ears, a small mouth (microstomia), an undersized jaw (micrognathia), clenched fingers, and other malformations[embryo.asu.edu]

  • Saethre-Chotzen Syndrome

    Other genetic diseases, like Down Syndrome symptoms, are a lot more common.[wisegeek.com] Clinical features of this syndrome include unilateral or bilateral coronal synostosis, ptosis, low-set ears, hearing loss, hypertelorism, maxillary hypoplasia, deviated nasal[ncbi.nlm.nih.gov] […] brachicefalia) e difetti radiali (aplasia o ipoplasia del pollice, aplasia o ipoplasia del radio); si associano dismorfismi facciali (esoftalmo,frontal bossing, ipoplasia del naso, microstomia[med2000eco.it]

  • Hypertelorism

    Some Congenital disorders such as Down Syndrome, Fetal Alcohol Syndrome, Cri-du-Chat Syndrome, Klinefelter Syndrome, Turner Syndrome, Ehlers-Danlos Syndrome and Waardenburg[eyewiki.aao.org] […] of hypertelorism is also heterogeneous.[en.wikipedia.org] […] abnormality characterized by severe hypoplasia of the mandible (agnathia) and severe midline defects, including holoprosencephaly, anterior cephalocele, cyclopia, aglossia, microstomia[sonoworld.com]

  • Malpuech Syndrome

    [tags: Asperger syndrome, Autism] Better Essays 1085 words (3.1 pages) History of Down's Syndrome Essay - Down’s Syndrome is named after John Langdon Down, a British doctor[123helpme.com] Malpuech syndrome shows IUGR, hypertelorism, cleft lip and palate, micropenis, hypospadias, renal anomalies, and caudal appendage. All are autosomal recessive.[ncbi.nlm.nih.gov] […] malformation; [Eyes]; Arched, sparse eyebrows; Telecanthus; Blepharophimosis; [Nose]; Long nose; Hypoplastic nostrils; Broad nasal bridge; Flattened nasal tip; [Mouth]; Microstomia[findzebra.com]

  • Aicardi's Syndrome

    Definition Aicardi syndrome is a rare disorder passed down through families (inherited) in which the structure that connects the two sides of the brain (called the corpus[coordinatedhealth.com] X-rays showed T10 sagittal clefting, T7 wedged vertebral body and abnormal facies with flattened midface, prominent infraorbital creases, upturned nose, microstomia, and micrognathia[ashg.org] Nearly all known cases of Aicardi syndrome are sporadic, which means that there are not passed down through generations and occur in people with no history of the disease[healthlifemedia.com]

  • Gorlin Syndrome

    KEYWORDS: Down syndrome, Medulloblastoma, Gorlin syndrome, Sonic hedgehog signaling pathway, Molecular profiling[ncbi.nlm.nih.gov] Because of macrocrania, hypertelorism and epidermal punctiform lesions in the palm of the hand, Gorlin syndrome was clinically suspected and molecularly confirmed by finding[ncbi.nlm.nih.gov] […] small ears (microtia), absent or small knee caps (patellae) short stature may include various skeletal abnormalities early feeding difficulties poor weight gain small mouth (microstomia[walkingwithgiants.org]

Similar symptoms