Hypertelorism: Causes & Reasons

Possible Causes for Hypertelorism

Ophthalmological abnormalities seen are dystopia canthorum, internal strabismus, congenital blindness, and hypertelorism. Our patient had hypertelorism. [e-ijd.org]

Our patient had multiple BCCs, palmar pits, calcification of falx cerebri, macrocephaly, frontal bossing, and hypertelorism. [jsstd.org]

Five patients (45,5%) presented with hypertelorism. [ojrd.biomedcentral.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]

Furthermore, a coarse face with prominent brow, hypertelorism and thick nasal tissues, can be present. [nature.com]

Aarskog-Scott Syndrome

On extraoral examination, triangular-elongated face, widow’s peak, puffy enlarged lips, ocular hypertelorism, ptosis, slight antimongoloid obliquity of palpebral fissure, [peertechzpublications.com]

OMIM, Johns Hopkins University, March 4, 2008 [for Professionals mainly] Gene Map Locus: Xp11.21 - Aarskog (1970) described an X linked disorder characterized by ocular hypertelorism [ibis-birthdefects.org]

The main features are short stature, ocular hypertelorism, brachydactyly, and penoscrotal transposition (shawl scrotum) in males (1). [scielo.br]

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 [ncbi.nlm.nih.gov]

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]

The face is typically flat and often asymmetrical with a wide forehead, low frontal hairline, ptosis, hypertelorism, hypoplastic maxilla, deviated nasal septum, high-arched [accessanesthesiology.mhmedical.com]

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]

Noonan Syndrome

Patients classically have lentiginosis, ECG abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. [pedclerk.bsd.uchicago.edu]

Facial features These include the following: Triangular-shaped face Hypertelorism Down-slanting palpebral fissures Ptosis Strabismus (48%) Amblyopia (33%) Refractive errors [emedicine.medscape.com]

A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM [profiles.umassmed.edu]

Pallister W Syndrome

[…] the word has come to be confined to ocular hypertelorism. [ncbi.nlm.nih.gov]

Clinical presentation There is a large clinical spectrum: CNS agenesis of the corpus callosum hypertelorism coloboma seizures 4 craniofacial c... [radiopaedia.org]

Hypertelorism MedGen UID: 9373 •Concept ID: C0020534 • Finding Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of [ncbi.nlm.nih.gov]

Pallister-Killian Syndrome

This disease is a multisystem disorder characterized by a dysmorphic phenotype which includes rounded forehead, broad nasal bridge and short nose, hypertelorism, wide mouth [hilarispublisher.com]

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 [ashg.org]

He had hypertelorism, bilateral telecanthus, and bilateral lower Hd entropion. [healio.com]

Wolf-Hirschhorn Syndrome

BACKGROUND: Wolf-Hirschhorn syndrome (WHS) is associated with facial dysmorphism including high forehead, high nasal bridge, hypertelorism and severe mental retardation. [ncbi.nlm.nih.gov]

Facies is characterized by, hypertelorism, big and large nose, micrognathia and others craniofacial abnormalities1,2. [scielo.iec.gov.br]

Opitz G/BBB syndrome (OS) is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities [ncbi.nlm.nih.gov]

DiGeorge Syndrome

Infants with DiGeorge syndrome have low-set ears, midline facial clefts, a small receding mandible, hypertelorism, a shortened philtrum, developmental delay, and congenital [msdmanuals.com]

We present a case which had thymic aplasia, hypocalcemia, facial dysmorphism (hypertelorism, low set ears, cleft of soft palate, fish-like mouth and micrognathia) and congenital [ncbi.nlm.nih.gov]

In the fourth case there was heart disease, microretrognathia, hypertelorism, short neck, absence of thymus and parathyroid glands. [ncbi.nlm.nih.gov]

Trisomy 12p

Affiliated tissues include skin, heart and eye, and related phenotypes are malar flattening and hypertelorism [malacards.org]

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 [semanticscholar.org]

Trisomy 12p syndrome Medicine Human Genetics 2004 This patient has peculiarly round face with prominent cheeks, hypertelorism, epicanthus, broad, flat nasal bridge, short [semanticscholar.org]

Treacher-Collins Syndrome

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]

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]

Hypertelorism. Preoperative appearance of patient with hypertelorism and maxillary retrusion. Hypertelorism. [emedicine.com]

Patau Syndrome

The initial clinical examination detected polydactyly in the left hand, congenital clubfoot and convex soles, ocular hypertelorism, a low nasal bridge, numerous hemangiomas [ncbi.nlm.nih.gov]

[…] presence of an additional (third) chromosome on an otherwise diploid chromosome 13 with variable abnormalities, most characteristic of which are microcephaly, microphthalmia, hypertelorism [icd9data.com]

Facial anomalies are variable and may range in severity from hypertelorism and premaxillary agenesis (80% of cases) to cebocephaly or cyclopia with absence of the nasal skeleton [orpha.net]

Rudiger's Syndrome

The features were hypertelorism [Fig. 2], entropion, punctal scarring, hypotrichiasis, absent meibomian glands [Fig. 3] and blepharitis. [journals.lww.com]

The features were hypertelorism [Figure - 2], entropion, punctal scarring, hypotrichiasis, absent meibomian glands [Figure - 3] and blepharitis. [ijo.in]

Other facial features include a large or bulging forehead; wide-set eyes (ocular hypertelorism); a short, upturned nose; and a wide mouth with a large tongue (macroglossia [medlineplus.gov]

Loeys-Dietz Syndrome

This is interesting because hypertelorism is considered to be a common clinical finding associated with LDS. [emjreviews.com]

Disease spectrum and associated features include: Craniofacial hypertelorism cleft palate bifid uvula craniosynostosis malar hypoplasia blue sclerae Chiari I malformation [radiopaedia.org]

Other facial features included hypertelorism and retrognathia. The oral cavity was notable for a high-arched palate and a broad uvula. [jamanetwork.com]

Congenital Laryngeal Cleft - Opitz G/BBB Syndrome

Mislovic Opitz G/BBB syndrome Schlüsselwörter Opitz G/BBB syndrome; ICD 10: Q87.8; Hypertelorism-hypospadias syndrome, hypospadias-dysphagia syndrome, Opitz BBB/G syndrome [ai-online.info]

[…] as hypertelorism, laryngotracheal abnormalities, and hypospadias [5]. [hindawi.com]

Opitz BBBG syndrome, Opitz-Frias syndrome, Opitz G syndrome, Opitz syndrome, hypertelorism with esophageal abnormalities and hypospadias Keywords Opitz G/BBB syndrome; ICD [ai-online.info]

LEOPARD Syndrome

Patient’s face (front view), showing lentigines, hypertelorism, and tongue protrusion. B. [scielo.br]

Ocular hypertelorism with myopia and low audibility was confirmed. [jisppd.com]

Despite a change in formal name, the 'LEOPARD' acronym is still useful to summarize the clinical features: L: lentigines (multiple) E: ECG conduction abnormalities O: ocular hypertelorism [radiopaedia.org]

Frontonasal Dysplasia Type 1

People with frontonasal dysplasia have at least two of the following features: widely spaced eyes (ocular hypertelorism); a broad nose; a slit (cleft) in one or both sides [medlineplus.gov]

Features of this disorder include widely spaced eyes (ocular hypertelorism) and severely depressed nasal bridge and ridge. [rarediseases.org]

This abnormal development also interferes with the proper formation of the skull and other facial structures, leading to anterior cranium bifidum occultum, hypertelorism, [medlineplus.gov]

Schinzel-Giedion Syndrome

At birth, they presented with coarse face, hypertelorism, and a deep groove under the eyes. Fontanelles and sutures were wide open. [ncbi.nlm.nih.gov]

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 [ncbi.nlm.nih.gov]

Coarse facies characterized by midface retraction, bulging forehead, facial hemangiomas, short nose with anteverted nostrils, protruding large tongue, and hypertelorism. [accessanesthesiology.mhmedical.com]

Jackson-Weiss Syndrome

On general examination the boy was of a short stature, had wide nasal bridge (hypertelorism) and mild exophthalmos ( Fig. 1 ). [scialert.net]

Jackson–Weiss syndrome Other names Craniosynostosis, midfacial hypoplasia, and foot abnormalities [1] Jackson–Weiss syndrome is inherited in an autosomal dominant pattern Symptoms Hypertelorism [en.wikipedia.org]

Pfeiffer syndrome can be diagnosed prenatally by sonography showing craniosynostosis, hypertelorism with proptosis, and broad thumb, or molecularly if it concerns a recurrence [ojrd.biomedcentral.com]

Trisomy 9p

Strabismus and hypertelorism were present. [karger.com]

The patient showed facial dysmorphisms typical of trisomy 9p syndrome, such as brachycephaly, hypertelorism, down-slanting palpebral fissures, broad prominent nose, and large [ncbi.nlm.nih.gov]

Moderate microcephaliy, enophthalmus, antimongoloid slant of palpebral fissures, mild hypertelorism, protruding ears, globulous nose, downward slanting mouth hypoplasia of [link.springer.com]

Opitz-Kaveggia Syndrome

[…] anus, characteristic behavior (affable, eager to please), and dysmorphic craniofacial features (such as relative macrocephaly, prominent forehead with frontal hair upsweep, hypertelorism [findexpertmd.com]

Opitz-Frias syndrome Micrognathia and a broad and flat nasal bridge with marked hypertelorism in a neonate with Opitz-Frias syndrome. [accessanesthesiology.mhmedical.com]

It is also characterized by dysmorphic features, including relative macrocephaly, hypertelorism, downslanted palpebral fissures, prominent forehead with frontal hair upsweep [litfl.com]

Acrofacial Dysostosis Type Rodríguez

The signs and symptoms of Acrofacial Dysostosis, Rodriguez type may include: 11 pairs of ribs Absent forearm Deeply set eye Deep-set nails Hypertelorism Low-set ears Micrognathia [dovemed.com]

0030084 Deeply set eye Deep set eye Deep-set eyes Sunken eye [ more ] 0000490 Deep-set nails 0001814 High palate Elevated palate Increased palatal height [ more ] 0000218 Hypertelorism [rarediseases.info.nih.gov]

[…] mandibular hypoplasia, upper limb phocomelia with olygodactyly, absent fibula, and a number of additional skeletal (hypoplastic scapula and ischii, 11 ribs, clubfeet), facial (hypertelorism [rarediseases.info.nih.gov]

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]

Mucopolysaccharidosis Type 1

On examination, child had dysmorphic features such as frontal bossing, hypertelorism, saddle nose, low-set ears, macroglossia, short stature, short neck, kyphosis of lumbar [jcor.in]

[…] significant number of cases,2,9 the initial diagnosis might be suspected from the ENT consultation with a special emphasis on anamnesis and examination (prominent torus frontalis, hypertelorism [elsevier.es]

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

Neurofibromatosis

[…] 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]

Maculae conditions misdiagnosed with CAL LEOPARD Syndrome Multiple lentigines, hypertelorism, sensorineural deafness, hypertrophic cardiomyopathy; autosomal dominant. [doi.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]

Aicardi's Syndrome

Coarse facies characterized by midface retraction, bulbing forehead, facial hemangiomas, short nose with anteverted nostrils, protruding large tongue, and hypertelorism. [accessanesthesiology.mhmedical.com]

Mucopolysaccharidosis

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

Autosomal Dominant Prognathism

Crouzon disease - craniostosis with widening of the skull and high forehead, ocular hypertelorism, exophthalmos, beaked nose, and hypoplasia of the maxilla. [medical-dictionary.thefreedictionary.com]

CCD is characterized by brachycephaly, hypertelorism, prominent orbital ridges, the inferior margin reduced to the small maxillae, and relative mandibular prognathism [ 1, [e-acfs.org]

The patient also had pectus carinatum, ocular hypertelorism, and mandibular prognathism. [jamanetwork.com]

Andersen-Tawil Syndrome

[…] with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism [orpha.net]

Andersen et al reported the case of a 8-years old with short stature, hypertelorism, broad nasal root, and defect of soft and hard palate. We thank Jørgen K. [whonamedit.com]