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634 Possible Causes for Mild Hypertelorism

  • Mulibrey Nanism Syndrome

    hypertelorism, telecanthus, yellowish dots in fundi, decreased retinal pigmentation with dispersion, hypoplasia of choroid, astigmatism, strabismus (Karlberg et al.2004)[atlasgeneticsoncology.org] Karlberg et al.2006) Head: Craniofacial features: triangular face, low nasal bridge, high and broad forehead, and scaphocephaly with occipitofrontal bossing Eye findings: Mild[atlasgeneticsoncology.org]

  • Hypertelorism

    CONCLUSIONS: Individuals with CLP exhibited on average a tendency toward mild hypertelorism, driven primarily by an increase in intercanthal distance.[ncbi.nlm.nih.gov] We report a mother and daughter who have hypertelorism, mild limb defects, umbilical hernia/omphalocele, natal teeth and minor craniofacial anomalies.[ncbi.nlm.nih.gov] Here we present a 2 year 5 month old girl with Teebi syndrome showing a prominent forehead, hypertelorism, mild exophthalmos, downslanting palpebral fissures, a depressed[ncbi.nlm.nih.gov]

  • Frontonasal Dysplasia

    Table 1 Mutation details and clinical features of subject with ALX3 mutation The patient presented with mild hypertelorism, a broad nasal root, a large and bifid nasal tip[ncbi.nlm.nih.gov] The patient presented with mild hypertelorism, a broad nasal root, a large and bifid nasal tip, and a widow's peak.[e-aps.org] A spectrum of abnormalities can be seen, ranging from mild hypertelorism to cleft face malformation ( 2 ).[ncbi.nlm.nih.gov]

  • Acidosis

    […] midline, synophrys, and a characteristic arched form of the eyebrows, along with mild hirsutism.[orpha.net] Clinical description Facial dysmorphism is characterized by a prominent forehead, wide nasal bridge, hypertelorism, broad anterior fontanelle, midfacial hypoplasia, broad[orpha.net]

  • Neonatal Adrenoleukodystrophy

    It is characterized by hypotonia, seizures, diffuse encephalopathy, sensorineural hearing loss, peripheral neuropathy, mild facial dysmorphism (hypertelorism and a flat midface[orpha.net] It is characterized by hypotonia, seizures , diffuse encephalopathy , sensorineural hearing loss , peripheral neuropathy , mild facial dysmorphism (hypertelorism and a flat[rarediseases.info.nih.gov]

  • Growth Failure

    Distal 14q duplication syndrome (14q32.2qter) presents with short stature, mild developmental delay, a high forehead, hypertelorism, dysplastic ear helices, short philtrum[karger.com] […] columella, long philtrum, thin upper lip, mild protruding ears, short neck, small hands with brachydactyly and clinodactyly of II left digit and V digit bilaterally, feet[cyberleninka.org] Dysmorphic features (Figure 1A,B) included round face, short forehead, medial eyebrow flare, wide nasal bridge, hypertelorism, epicanthal folds, broad nasal tip with prominent[cyberleninka.org]

  • Acroosteolysis

    Facial dysmorphic features include bathrocephaly with prominent occiput, mild hypertelorism with telecanthus, downslanted eyes with bushy eyebrows (synophrys), low-set ears[orpha.net] AOD manifests clinically from infancy or early childhood onwards with a mild cranio-facial dysmorphism with features becoming gradually coarser over time.[orpha.net]

  • Hypertrophic Cardiomyopathy

    Clinical manifestations are often mild, which may result in difficult and late diagnosis.[ncbi.nlm.nih.gov] Introduction LEOPARD syndrome is a rare genetic disorder characterised by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis[ncbi.nlm.nih.gov]

  • Polyarthritis

    The facial abnormalities include hypertelorism, telecanthus, maxillary hypoplasia, and a broad, flat nasal bridge.[eyewiki.aao.org] […] correctopia, ectropion uveae, and often is similar in clinical appearance to iridocorneal endothelial syndrome(ICE). [4] Systemically, patients with ARS will commonly have mild[eyewiki.aao.org]

  • Skin Neoplasm

    […] mandibular prognathism, and ocular hypertelorism.[jmg.bmj.com] […] results in bridging of the sella turcica and is a common finding in NBCCS. 35 Many patients have characteristic coarse facial features with frontal bossing, macrocephaly, mild[jmg.bmj.com]

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