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1,705 Possible Causes for Hypertelorism

  • Noonan Syndrome

    Noonan: Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease.[] The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears.[] The facial features may include: low-set or rotated ears, and Hypertelorism (widely spaced eyes).[]

  • Schinzel-Giedion Syndrome

    The orofacial features include coarse facies, frontal bossing, ocular hypertelorism, anterior open bite and macrodontia.[] At birth, they presented with coarse face, hypertelorism, and a deep groove under the eyes. Fontanelles and sutures were wide open.[] Postnatally, in keeping with a diagnosis of SGS, there were large fontanelles, ocular hypertelorism, a wide, broad forehead, midface retraction, a short, upturned nose, macroglossia[]

  • Wolf Hirschhorn Syndrome

    BACKGROUND: Wolf-Hirschhorn syndrome (WHS) is associated with facial dysmorphism including high forehead, high nasal bridge, hypertelorism and severe mental retardation.[] Opitz G/BBB syndrome (OS) is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities[] The facial phenotype is characterized by hypertelorism, protruding eyes, prominent glabella, broad nasal bridge and short philtrum.[]

  • Saethre-Chotzen Syndrome

    Clinical features of this syndrome include unilateral or bilateral coronal synostosis, ptosis, low-set ears, hearing loss, hypertelorism, maxillary hypoplasia, deviated nasal[] Chotzen, German psychiatrist, 20th century an autosomal-dominant disorder characterized by acrocephalosyndactyly in which the syndactyly is mild and by hypertelorism, ptosis[] […] phenotypic features, present in more than a third of our patients with TWIST mutations, are coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, ptosis, hypertelorism[]

  • Trisomy 12p

    Genetic analysis was conducted on umbilical cord blood for a fetus accompanied with tricuspid regurgitation and orbital hypertelorism from a 27-year-old gravida 4, para 1[] The dysmorphic features included a board forehead with high anterior hairline, hypertelorism, flat nasal bridge, short upturned nose, down turned corners of the mouth, short[] Affiliated tissues include skin , heart and eye , and related phenotypes are malar flattening and hypertelorism[]

  • 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[] Clinically PKS is characterized by craniofacial dysmorphism with neonatal frontotemporal alopecia, hypertelorism, and low-set ears as well as kyphoscoliosis, severe intellectual[] The syndrome presents with a recognizable pattern of findings including pigmentary skin changes, coarse face, high forehead, sparse anterior scalp hair, hypertelorism, seizures[]

  • Pallister W Syndrome

    […] nervous system Excludes: hemangioma (228.02) neurofibromatosis (237.7) peripheral, sympathetic, and parasympathetic nerves and ganglia (215.0-215.9) retrobulbar (224.1) 376.41 Hypertelorism[] […] individuals may present in postnatal life with mental retardation, epilepsy, skin pigmentation, and facial anomalies, including sparse anterior scalp hair, a flat occiput, hypertelorism[] […] is often unlikely that these samples will be tested when the blood karyotype is normal. [6] Using an ultrasound, Pallister–Killian may be diagnosed through observation of hypertelorism[]

  • 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,[] Convert to ICD-10-CM : 756.0 converts approximately to: 2015/16 ICD-10-CM Q75.0 Craniosynostosis Or: 2015/16 ICD-10-CM Q75.2 Hypertelorism Or: 2015/16 ICD-10-CM Q75.9 Congenital[] Other abnormalities ( cleft palate , colobomas of the upper lid, hypertelorism and mental retardation ) are infrequent.[]

  • Scott Bryant Graham Syndrome

    Dysmorphic features included fine hair, synophrys, long eyelashes, hypertelorism, bulbous nasal tip, anteverted ears with hyperconvoluted helix, shallow philtrum, thin lips[]

  • Olfactory Neuroblastoma

    Abstract Olfactory neuroblastoma is a rare, malignant neoplasm arising from the olfactory epithelium. It has an aggressive biological behavior that is characterized by local recurrence, atypical distant metastasis, and poor long-term prognosis. The incidence of cervical lymph node metastasis in olfactory neuroblastoma[…][]

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