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1,234 Possible Causes for Hypertelorism, Low Set Ears

  • Mandibulofacial Dysostosis

    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] 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] ears.[rarediseases.org]

  • Velocardiofacial Syndrome

    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] […] velocardiofacial syndrome are as follows: Abnormalities of the palate like cleft palate Characteristic facial features like a narrow groove of the upper lip, wide-set eyes, hypertelorism[syndromepictures.com]

  • Trisomy 18

    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] It is characterized growth retardation, microcephaly, microphthalmia, ocular hypertelorism, ptosis, microstomia, distinctively clenched fingers and other congenital malformations[symptoma.com]

  • Schinzel-Giedion Syndrome

    The orofacial features include coarse facies, frontal bossing, ocular hypertelorism, anterior open bite and macrodontia.[ncbi.nlm.nih.gov] Midfacial retraction, frontal bossing, deep groove under the eyes, upturned nose, low-set ears, bilateral cryptorchidism, and generalized hypertrichosis were identified on[ncbi.nlm.nih.gov] At birth, they presented with coarse face, hypertelorism, and a deep groove under the eyes. Fontanelles and sutures were wide open.[ncbi.nlm.nih.gov]

  • Smith-Magenis Syndrome

    The patient had hypertelorism, exotropia, and high myopia.[ncbi.nlm.nih.gov] ears, and brachydactyly.[link.springer.com] Craniofacial and skeletal abnormalities are common, including brachycephaly, broad nasal bridge, flat midface, tented upper lip, synophrys, hypertelorism, abnormally shaped[link.springer.com]

  • Turner Syndrome

    […] encountered findings were growth delay (98.8%), shortening of the 4th and 5th metacarpal bones (74.6%), abnormal nails (73.3%), broad chest (60.7%), short neck (58.6%), hypertelorism[ncbi.nlm.nih.gov] Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin from tops of shoulders to sides of neck Low hairline in the back Low-set ears[medlineplus.gov] Definition: A multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM , multiple[hon.ch]

  • Noonan Syndrome 1

    Noonan: Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease.[whonamedit.com] . - 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] Signs and Symptoms: Distinctive facial features: widely set eyes, low set ears.[care.com]

  • Pallister-Killian Syndrome

    We showed that the most consistent pre-natal ultrasound findings include hypertelorism, broad neck, shorts limbs, abnormal hands or feet, diaphragmatic hernia and hydramnios[ncbi.nlm.nih.gov] These abnormalities included webbed neck, low-set ears, lower jaw tooth bud, left simian crease, shield chest, focal aplasia cutis, diaphragmatic hernia, hypoplastic lungs[ncbi.nlm.nih.gov] Clinically PKS is characterized by craniofacial dysmorphism with neonatal frontotemporal alopecia, hypertelorism, and low-set ears as well as kyphoscoliosis, severe intellectual[ncbi.nlm.nih.gov]

  • Wolf Hirschhorn Syndrome

    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] Opitz G/BBB syndrome (OS) is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities[ncbi.nlm.nih.gov]

  • Down Syndrome

    […] 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] […] appearance Small brachycephalic head Epicanthal folds Flat nasal bridge Upward-slanting palpebral fissures Brushfield spots Small nose and small mouth Protruding tongue Low-set[emedicine.medscape.com]

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