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1,106 Possible Causes for Hypertelorism, Low Set Ears, Microcephaly

  • 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]

  • Down Syndrome

    Microarray detected an intragenic microdeletion of DYRK1A in an individual with microcephaly and autism.[ncbi.nlm.nih.gov] […] 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] Some common physical signs of the disorder include a small head, flattened face, short neck, up-slanted eyes, low-set ears, enlarged tongue and lips , and sloping underchin[britannica.com]

  • Mandibulofacial Dysostosis

    The common features are macrostomia, low-set ears and ear defects, high-arched palate, nasal deformity, teeth malocclusion, open bite and conductive hearing loss .[patient.info] Mandibulofacial dysostosis with microcephaly (MFDM) is a multiple malformation syndrome comprising microcephaly, craniofacial anomalies, hearing loss, dysmorphic features,[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]

  • 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]

  • Wolf Hirschhorn Syndrome

    This region is also likely to contain a gene for microcephaly.[ncbi.nlm.nih.gov] 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]

  • Saethre-Chotzen Syndrome

    ACS type III (or Saethre-Chotzen syndrome) is characterized by microcephaly, skull asymmetry, mild syndactyly, and facial abnormalities.[ncbi.nlm.nih.gov] 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] Many cases of SCS have been previously reported but erroneously diagnosed as Crouzon syndrome, "pseudo-Crouzon" syndrome, simple craniosynostis, microcephaly or other inappropriate[ncbi.nlm.nih.gov]

  • Cri Du Chat Syndrome

    Cri du chat syndrome is characterized by cat-like cry, facial dysmorphisms, microcephaly, speech delay, intellectual disability and slow growth rate, which are present with[ncbi.nlm.nih.gov] Clinical symptoms were catlike cry in early infancy, severe mental and motor retardation, failure to thrive, hypertelorism, antimongoloid slant of the eyes, ptosis of the[ncbi.nlm.nih.gov] set ears and short IV metacarpals has not changed with advancing age.[ncbi.nlm.nih.gov]

  • Cornelia De Lange Syndrome

    CdLS, also called Brachmann-de Lange syndrome - BdLS) is a multisystem developmental disorder characterized by distinctive facial features, growth and mental retardation, microcephaly[ncbi.nlm.nih.gov] The craniofacial appearance caused by HDAC8 mutations overlaps that of typical CdLS but often displays delayed anterior fontanelle closure, ocular hypertelorism, hooding of[ncbi.nlm.nih.gov] The facial differences include thin, arched eyebrows; long eyelashes; low-set ears; small, widely spaced teeth; and a small, upturned nose. M ...[hon.ch]

  • Trigonocephaly

    Almost all the symptoms of the patient, including polymicrogyria, microcephaly, facial abnormalities, internal anomalies, seizures, and mental retardation, were compatible[ncbi.nlm.nih.gov] The girl was the first-born child of consanguineous parents and had trigonocephaly, apparent hypertelorism, upslanted palpebral fissures, strabismus, small nose with broad[ncbi.nlm.nih.gov] We report on a patient with trigonocephaly, biparietal widening as a result of metopic synostosis, strabismus, upslanted palpebral fissures, apparently low-set ears with abnormal[ncbi.nlm.nih.gov]

  • Retinoid

    Affected infants may also have a condition known as microcephaly, which indicates that the head circumference is smaller than would be expected for age and sex.[rarediseases.org] Additional craniofacial findings include widely spaced eyes (hypertelorism), incomplete closure of the roof of the mouth (cleft palate), an abnormal groove in the upper lip[rarediseases.org] Affected infants often display small, low-set ears (microtia) with narrowing (stenosis) of the ear canals.[rarediseases.org]

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