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1,996 Possible Causes for Hypertelorism

  • Acromegaly

    […] acromegaloid facial appearance syndrome, featuring a prominent forehead, prognasthism (mandibular protusion), enlarged nose, large ears, macroglossia, (usually lower) macrocheilia, hypertelorism[]

  • Sinusitis

    In our 34-year-old female CF patient, rhinosinusitis caused massive orbital hypertelorism despite three sinonasal operations.[]

  • 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[]

  • 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[]

  • Noonan Syndrome 1

    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).[]

  • Wolf Hirschhorn Syndrome

    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 dysmorphic features in the present case were dolichocephaly; high forehead; large rectangular nose continuing to the eyebrows; hypertelorism; short philtrum; carp-shaped[]

  • 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[] He had hypertelorism, bilateral telecanthus, and bilateral lower Hd entropion.[] […] dislocation Dislocations of the elbows Elbow dislocations [ more ] 0003042 Generalized tonic-clonic seizures Grand mal seizures 0002069 Global developmental delay 0001263 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,[] Other abnormalities ( cleft palate , colobomas of the upper lid, hypertelorism and mental retardation ) are infrequent.[] The eyes are often set wide apart from each other (hyperteloric orbits) and air cells are absent from the mastoids. The cranial base is abnormally curved.[]

  • Freeman-Sheldon Syndrome

    […] facial characteristics; skeletal malformations include camptodactyly with ulnar deviation, talipes equinovarus, while the facial characteristics include deep-sunken eyes with hypertelorism[] FSS is characterized by a "mask-like" face with a prominent forehead, hypertelorism, microstomia with pouting lips resembling a whistling mouth, midface hypoplasia, blepharophimosis[] […] and Sheldon, a pediatrician, described two children with microsomia, increased philtrum length, small nose and nostrils, flattening of facial bones, deep set eyes, ocular hypertelorism[]

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