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897 Possible Causes for Hypertelorism, Low Set Ears, Microcephaly

  • Down Syndrome

    RESULTS: Microarray detected an intragenic microdeletion of DYRK1A in an individual with microcephaly and autism.[ncbi.nlm.nih.gov] […] 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] […] syndrome there is a level of cognitive impairment, as well as the characteristic craniofacial features, such as an anteriorly and posteriorly flattened head, dysplastic low-set[symptoma.com]

  • Noonan Syndrome

    The patient presented with postnatal-onset failure-to-thrive, developmental delay, microcephaly, velopalatal incompetence, pectus excavatum, coarctation of aorta, atrial and[ncbi.nlm.nih.gov] Craniofacial anomalies in affected patients include hypertelorism and severe open bite associated with masticatory dysfunction.[ncbi.nlm.nih.gov] . - 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]

  • Mandibulofacial Dysostosis

    An exam of the infant may reveal a variety of problems, including: Abnormal eye shape Flat cheekbones Cleft palate or lip Small jaw Low-set ears Abnormally formed ears Abnormal[nlm.nih.gov] We report a case of mandibulofacial dysostosis with microcephaly presenting with seizures.[ncbi.nlm.nih.gov] The hallmarks of the syndrome are a round, flat face, severe hypertelorism, downslanting palpebral fissures extending to the temples, a broad nasal base, anteverted nares,[ncbi.nlm.nih.gov]

  • Wolf Hirschhorn Syndrome

    KEYWORDS: DNA replication; Dormant origins; Microcephaly; Nucleosome assembly; Origin licensing[ncbi.nlm.nih.gov] BACKGROUND: Wolf-Hirschhorn syndrome (WHS) is associated with facial dysmorphism including high forehead, high nasal bridge, hypertelorism and severe mental retardation.[ncbi.nlm.nih.gov] ears.[ncbi.nlm.nih.gov]

  • Patau Syndrome

    It leads to a variety of abnormalities that include mental retardation, microcephaly, low-set ears, eye structural defects, polydactyly, and limb abnormalities The presence[icd9data.com] The initial clinical examination detected polydactyly in the left hand, congenital clubfoot and convex soles, ocular hypertelorism, a low nasal bridge, numerous hemangiomas[ncbi.nlm.nih.gov] Other birth defects of trisomy 13 include: Clenched hands Cleft lip or palate Extra fingers or toes (polydactyly) Hernias Kidney, wrist, or scalp problems Low-set ears Small[webmd.com]

  • Cri Du Chat Syndrome

    The clinical symptoms of cri du chat syndrome usually include a high-pitched cat-like cry, mental retardation, delayed development, distinctive facial features, small head[genome.gov] […] by a cat-like cry, failure to thrive, microcephaly, mental retardation, spastic quadriparesis, micro- and retrognathia, glossoptosis, bilateral epicanthus, hypertelorism,[icd9data.com] set ears and short IV metacarpals has not changed with advancing age.[ncbi.nlm.nih.gov]

  • Goldberg-Shprintzen Syndrome

    […] head – widely spaced eyes – wandering eye – outside corners of the eyes that point downward – high, narrow roof of the mouth – underdeveloped jaw bones – small lower jaw – low-set[marfan.co] Hirschsprung disease, mental retardation, microcephaly, and specific craniofacial dysmorphism were observed in three children from a large, consanguineous, Moroccan family[ncbi.nlm.nih.gov] Disease Ontolog ORDO Orphanet:66629 Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism[ebi.ac.uk]

  • Rubinstein-Taybi Syndrome

    Rubinstein-Taybi syndrome (RTS; OMIM 180849) is a well-defined mental retardation/multiple congenital anomalies (MR/MCA) syndrome characterized by postnatal growth retardation, microcephaly[ncbi.nlm.nih.gov] Extra oral features revealed distinctive facial appearance with a broad fore head, hypertelorism, broad nasal bridge and beaked nose.[ncbi.nlm.nih.gov] […] 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]

  • Velocardiofacial Syndrome

    Learning disabilities occur often; short stature, slender hyperextensible hands and digits, scoliosis, mental retardation, inguinal hernia, auricular abnormalities, and microcephaly[medical-dictionary.thefreedictionary.com] The main manifestations of our patient were feeding difficulties, respiratory infections, short stature, peculiar face with hypertelorism, prominent nose, abnormal ears, microstomia[ncbi.nlm.nih.gov] These may include small, low-set ears, short width of eye openings (palpebral fissures), hooded eyes, a relatively long face, an enlarged nose tip (bulbous), or a short or[mayoclinic.org]

  • Trisomy 18

    The face is a characteristic with wide palpebral fissures, wide fontanels, elongated skull, drooping eyelids, small head, small jaw, small sternum, double toes, cleft lip[symptoma.com] 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] During ultrasonographic examination, we discovered that her fetus had several important abnormalities, including a cystic hygroma, craniofacial defects (low-set ears, broad[ncbi.nlm.nih.gov]

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