Create issue ticket

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)[] Karlberg et al.2006) Head: Craniofacial features: triangular face, low nasal bridge, high and broad forehead, and scaphocephaly with occipitofrontal bossing Eye findings: Mild[]

  • Hypertelorism

    CONCLUSIONS: Individuals with CLP exhibited on average a tendency toward mild hypertelorism, driven primarily by an increase in intercanthal distance.[] We report a mother and daughter who have hypertelorism, mild limb defects, umbilical hernia/omphalocele, natal teeth and minor craniofacial anomalies.[] 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[]

  • 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[] The patient presented with mild hypertelorism, a broad nasal root, a large and bifid nasal tip, and a widow's peak.[] A spectrum of abnormalities can be seen, ranging from mild hypertelorism to cleft face malformation ( 2 ).[]

  • Acidosis

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

  • Neonatal Adrenoleukodystrophy

    It is characterized by hypotonia, seizures, diffuse encephalopathy, sensorineural hearing loss, peripheral neuropathy, mild facial dysmorphism (hypertelorism and a flat midface[] It is characterized by hypotonia, seizures , diffuse encephalopathy , sensorineural hearing loss , peripheral neuropathy , mild facial dysmorphism (hypertelorism and a flat[]

  • Growth Failure

    Distal 14q duplication syndrome (14q32.2qter) presents with short stature, mild developmental delay, a high forehead, hypertelorism, dysplastic ear helices, short philtrum[] […] 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[] Dysmorphic features (Figure 1A,B) included round face, short forehead, medial eyebrow flare, wide nasal bridge, hypertelorism, epicanthal folds, broad nasal tip with prominent[]

  • Acroosteolysis

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

  • Hypertrophic Cardiomyopathy

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

  • Polyarthritis

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

  • Skin Neoplasm

    […] mandibular prognathism, and ocular hypertelorism.[] […] 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[]

Further symptoms