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2,239 Possible Causes for Hypertelorism

  • Gorlin Syndrome

    Because of macrocrania, hypertelorism and epidermal punctiform lesions in the palm of the hand, Gorlin syndrome was clinically suspected and molecularly confirmed by finding[ncbi.nlm.nih.gov] […] to have the syndrome. multiple basal cell carcinomas, often at puberty and in adolescence craniofacial anomalies odontogenic keratocysts, often multiple frontal bossing hypertelorism[radiopaedia.org] […] the falx cerebri rib anomalies: bifid rib (see image), fused, splayed first degree relative with Gorlin syndrome Minor criteria macrocephaly frontal bossing, cleft lip or hypertelorism[radiopaedia.org]

  • Mucopolysaccharidosis

    Clinical manifestations Upper airways Facial coarseness, hypertelorism, sunken nasal dorsum, anteverted nostrils, thickened lips, gingival hyperplasia [19] and dental distortions[hindawi.com]

  • Coffin-Lowry Syndrome

    A 6 year-old, and a 3 year-old boy both had distinct clinical features of Coffin-Lowry syndrome; severe mental and motor retardation, microcephaly, prominent forehead, hypertelorism[ncbi.nlm.nih.gov] Coffin-Lowry Syndrome is characterized by mental retardation, skeletal abnormalities, delayed bone development, short stature, tapered fingers, large ears, orbital hypertelorism[ncbi.nlm.nih.gov] The typical facial features consist of a prominent forehead, hypertelorism, a flat nasal bridge, downward sloping palpebral fissures, and a wide mouth with full lips.[ncbi.nlm.nih.gov]

  • Aarskog-Scott Syndrome

    As previously reported, 6 carrier females often show minor dysmorphic features such as hypertelorism and widow's peak.[doi.org] Individuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat feet; males have a shawl scrotum.[ncbi.nlm.nih.gov] Ophthalmic findings include a slight downward slant to the palpebral fissures, hypertelorism, blepharoptosis, strabismus, ophthalmoplegia, hypermetropic astigmatism and a[ncbi.nlm.nih.gov]

  • 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] 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[icd9data.com] Other abnormalities ( cleft palate, colobomas of the upper lid, hypertelorism and mental retardation ) are infrequent.[patient.info]

  • Saethre-Chotzen Syndrome

    Chotzen, German psychiatrist, 20th century an autosomal-dominant disorder characterized by acrocephalosyndactyly in which the syndactyly is mild and by hypertelorism, ptosis[medical-dictionary.thefreedictionary.com] 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] Thick eyebrows, prominent eyelashes, mild convergent strabismus and marginal hypertelorism were present.[ncbi.nlm.nih.gov]

  • Apert Syndrome

    We detected irregular head shape, dolicocephaly, prominent forehead, bilateral mild ventriculomegaly, suspicion of partial agenesis of the corpus callosum, hypertelorism,[ncbi.nlm.nih.gov] Abstract Apert syndrome is characterized by hypertelorism, a negative canthal axis, and central midfacial hypoplasia, resulting in a biconcave face.[ncbi.nlm.nih.gov] The patient presented with several craniofacial deformities, including brachycephaly, midface hypoplasia, flat face, hypertelorism, ocular proptosis, downslanting palpebral[ncbi.nlm.nih.gov]

  • Neurofibromatosis Type 1

    […] frequent than in NF1) Multiple café-au-lait spots (an autosomal dominant trait without other features of neurofibromatosis) LEOPARD syndrome (multiple lentigines, ocular hypertelorism[en.wikibooks.org] NS is a disorder characterized by dysmorphic facial features, short stature, hypertelorism, cardiac anomalies, deafness, motor delay, and a bleeding diathesis.[genome.ucsc.edu] Maculae conditions misdiagnosed with CAL LEOPARD Syndrome Multiple lentigines, hypertelorism, sensorineural deafness, hypertrophic cardiomyopathy; autosomal dominant.[doi.org]

  • Turner Syndrome

    […] encountered findings were growth delay (98.8%), shortening of the 4 th and 5 th metacarpal bones (74.6%), abnormal nails (73.3%), broad chest (60.7%), short neck (58.6%), hypertelorism[ncbi.nlm.nih.gov] Definition: A multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple[hon.ch] […] webbed posterior neck) Broad, short appearing neck Ocular abnormalities are common and include near-sightedness, far-sightedness, strabismus, ptosis, epicanthal folds, and hypertelorism[medicalhomeportal.org]

  • Noonan Syndrome

    Craniofacial anomalies in affected patients include hypertelorism and severe open bite associated with masticatory dysfunction.[ncbi.nlm.nih.gov] Eyelid abnormalities such as ocular hypertelorism and blepharoptosis are the most commonly observed eye complications.[ncbi.nlm.nih.gov] Noonan: Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease.[whonamedit.com]

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