Hypotelorism: Causes & Reasons

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Possible Causes for Hypotelorism

Autosomal Recessive Mental Retardation Type 13

Patau Syndrome

Microcephaly : Decreased cranial circumference Large fontanelle Scarred defect of the scalp along the sagittal suture Malformation of the eyes Microphthalmia : Undersized eyes Hypotelorism [flexikon.doccheck.com]

[…] intrauterine growth restriction (IUGR): tends to be early abnormal facies: 90%, strong marker cleft lip +/- palate: ~45% 9 microphthalmia: rarely anophthalmia 10 micrognathia 6 hypotelorism [radiopaedia.org]

* Hypotelorism (rarely cyclopia). * Small ears (low set). [fetalultrasound.com]

Trigonocephaly

In no case was any attempt made to correct the hypotelorism surgically. [ncbi.nlm.nih.gov]

Abstract This study was designed to examine whether hypotelorism associated with trigonocephaly might be self-correcting. [doi.org]

Current methods of surgery often result in undercorrection of the almost ever-present hypotelorism. [ncbi.nlm.nih.gov]

Isolated Trigonocephaly

An element of hypotelorism is also appreciated. 3 articles feature images from this case Craniosynostosis Trigonocephaly Hypotelorism 5 public playlists includes this case [radiopaedia.org]

Spring-assisted surgery performed before 6 months of age can normalise hypotelorism in metopic synostosis. [gu.se]

Hypotelorism, and other characteristic features of the trigonocephalic skull are well recognizable. [skullbaseinstitute.com]

Arrhinia

Submucosal cleft palate, right auricular deformity, and hypotelorism were also present. [jmedicalcasereports.com]

This was accompanied by central nervous system and ear anomalies, a submucosal cleft palate, and hypotelorism. [jmedicalcasereports.com]

A variety of anomalies such as absence of the paranasal sinuses, cleft palate, facial anomalies like hypotelorism or hypertelorism, central nervous system anomalies, umbilical [jmedicalcasereports.com]

Aprosencephaly and Cerebellar Dysgenesis

Causes List for Hypotelorism Some of the possible causes of Hypotelorism or similar disorders may include: 2 Absent corpus callosum cataract immunodeficiency (Hypotelorism [familydiagnosis.com]

[…] and palate Semilobar Range from single orbit/eye to mild hypotelorism Arrhinia, proboscis, single nostril Agnathia, cleft lip and palate Lobar Small OOD/IOD/normal Normal [radiologykey.com]

The mother had isolated hypotelorism and abnormal palate. [jmg.bmj.com]

Acrootoocular Syndrome

Human phenotypes related to Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies: 60 33 (show all 50) # Description HPO Frequency Orphanet Frequency [malacards.org]

Name Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies Synonyms ACROOTOOCULAR SYNDROME, AOO SYNDROME Classification developmental, eye, genetic [mousephenotype.org]

While most of the reported cases were bilateral, several unilateral cases have been reported. 26 – 29 Associated ocular findings include hypotelorism, 27 hypertelorism, 30 [radiologykey.com]

Blepharofacioskeletal Syndrome

Orpha Number: 2353 Disease definition Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism [rarediseases.info.nih.gov]

[…] orphan drugs.Orpha Number: 2353Disease definitionSchilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism [malacards.org]

Patients had typical features including hypotelorism, small palpebral fissures and a small oral opening. [researchgate.net]

Familial Scaphocephaly Syndrome

Hypotelorism, and other characteristic features of the trigonocephalic skull are well recognizable. [skullbaseinstitute.com]

Sometimes, the forehead looks quite pointed, like a triangle, with closely placed eyes (hypotelorism). [umm.edu]

[…] quite pointed like the front of a ship, and when viewed from above looks like a triangle (hence the term trigonocephaly to describe this shape), with closely placed eyes ( hypotelorism [chw.org]

Alobar Holoprosencephaly

The fetus had a crown-rump length of 40.9 mm, with the cephalic pole occupied by a single cystic cavity measuring 10.6 x 7.7 x 6.8 mm and severe hypotelorism associated with [ncbi.nlm.nih.gov]

The facial dysmorphism was characterized by the single nostril, hypotelorism, absence of philtrum and small head girth. [ncbi.nlm.nih.gov]

Clinical examination revealed microcephaly, hypotelorism, micrognathia, a flat rudimentary nose, high palate, thick dysplastic low-set ears, a short neck, preaxial polydactyly [ncbi.nlm.nih.gov]

Isolated Synostotic Plagiocephaly

The associated cranial vault deformity consists of relative hypotelorism, an elevated supraorbital ridge medially, and posteroinferior recession of the lateral orbital rims [diacritech.com]

Trigonocephaly midline ridge on forehead, hypotelorism, upper slant of bilateral canthi, anterior cranial based increased in AP dimension What is the incidence of increased [quizlet.com]

In rare cases, the presence of hypotelorism (close-set eyes) in trigonocephaly can be associated with other congenital anomalies. [chop.edu]

Craniosynostosis Type 4

There is restriction of growth across the forehead leading to a triangular shape (trigonocephaly) and true narrowing of the orbits (hypotelorism). [ohsu.edu]

This condition causes a keel-shaped forehead and eyes that are set closer together than normal (hypotelorism). [rarediseases.org]

Figure 1: (a) X-ray of the skull with fused metopic suture and hypotelorism (b) intraoperative image showing opening up of the metopic suture and reshaped fronto-orbital bandeau [jclpca.org]

Ring Chromosome 7

[…] pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism [orpha.net]

[…] arched eyebrows High, rounded eyebrows High-arched eyebrows Thick, flared eyebrows [ more ] 0002553 Hypogonadism Decreased activity of gonads 0000135 Hypospadias 0000047 Hypotelorism [rarediseases.info.nih.gov]

Chromosome 18p Deletion Syndrome

In minor cases, the individual can have changes in the facial features like a cleft palate, eyes that are closer together(hypotelorism) or only one from tooth that is in the [wiki.ggc.usg.edu]

[…] other neurologic findings, and/or extremely variable midline facial defects, such as the presence of a single, central front tooth (maxillary incisor); closely spaced eyes (hypotelorism [rarediseases.org]

[…] associated malformations may include the presence of a single, central front tooth of the upper jaw (maxillary incisor); widely or closely set eyes (ocular hypertelorism or hypotelorism [rarediseases.org]

Arhinencephaly

In cebocephaly, orbital hypotelorism is associated with single-nostril nose. [en.atlaseclamc.org]

Abstract Two patients with orbital hypotelorism, flat nose, and bilateral lateral cleft of lip and palate with a hypoplastic philtrumpremaxilla Anlage are described. [pediatrics.aappublications.org]

Semilobar holoprosencepaly is characterized by hypotelorism, microphthalmia, coloboma, nasal malformations, and variable degrees of mental retardation. [xmri.com]

Isolated Arhinencephaly

These include cebocephaly (hypotelorism, single nostril), cyclopia (fused or nearly fused orbits with supra-orbital proboscis), ethmocephaly (hypotelorism, high midline proboscis [perinatal.nhs.uk]

Lateral view of the same infant shows the microcephaly, receding forehead and chin, marked hypotelorism, and median cleft. [rrnursingschool.biz]

Microcephaly, hypotelorism, small nares Microcephaly, anophthalmia, cleft liplpalate, low set ears Microcephaly, absent left pinna, hypoplastic right pinna Microcephaly, [documents.tips]

Subcortical Band Heterotopia

Included in the spectrum are anophthalmia or cyclopia, malformed or absent nares or nasal cavity, hypotelorism, cleft lip and cleft palate, and a central incisor. [merckmanuals.com]

Ring Chromosome 9

[…] an inverted 9p22.3-p24.3 duplication was found in a girl presenting with some of the phenotypic characteristics of ring 9 syndrome such as trigonocephaly, microcephaly, hypotelorism [moh-it.pure.elsevier.com]

Malignant Hyperthermia - Arthrogryposis - Torticollis

Frequent (79-30%) HP:0003510 34 midface retrusion 59 32 occasional (7.5%) Occasional (29-5%) HP:0011800 35 proptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000520 36 hypotelorism [malacards.org]

[…] palpebral fissures Downward slanting of the opening between the eyelids 0000494 Downturned corners of mouth Downturned corners of the mouth Downturned mouth [ more ] 0002714 Hypotelorism [rarediseases.info.nih.gov]

Hypor–Hypox[edit] Hyporeninemic hypoaldosteronism Hyposmia nasal hypoplasia hypogonadism Hypospadias familial Hypospadias mental retardation Goldblatt type Hyposplenism Hypotelorism [sosu.us]

Craniorhiny

[…] left- and right-sided diaphragmatic hernias demonstrates different frequencies of selected additional anomalies A newly recognized syndrome of Marfanoid habitus; long face; hypotelorism [insights.ovid.com]

Mueller Sybert syndrome Rozin Hertz Goodman syndrome Rubinstein-Taybi Syndrome Say Meyer syndrome SCARF syndrome Schaefer Stein Oshman syndrome Schilbach-Rott Syndrome Ocular Hypotelorism [ctdbase.org]

Hertz Goodman Syndrome Rubinstein-Taybi syndrome + Say Meyer Syndrome SC phocomelia syndrome SCARF Syndrome Schaefer Stein Oshman Syndrome Schilbach-Rott Syndrome Ocular Hypotelorism [rgd.mcw.edu]

Anauxetic Dysplasia

Typical facial features in anauxetic dysplasia include closely spaced eyes ( hypotelorism ), a flat or sunken appearance of the middle of the face (midface hypoplasia), an [elbiruniblogspotcom.blogspot.com]

Anophthalmia - Microphthalmia Syndrome

There may or may not be evidence of concurrent hypotelorism. anophthalmia Promoted articles (advertising) [radiopaedia.org]

Hypotelorism (reduced distance between the eyes) or cyclops. Other brain and central nervous system abnormalities, including: Neural tube defects. [patient.info]

[…] cause defects, such as: cleft lip and palate an abnormally small eye or eyes (microphthalmia) absence of 1 or both eyes (anophthalmia) reduced distance between the eyes (hypotelorism [nhs.uk]

Partial Trisomy 13 in Patau Syndrome

Hypotelorism (reduced distance between the eyes) or cyclops. Other brain and central nervous system abnormalities, including: Neural tube defects. [patient.info]

In those with Trisomy 13 Syndrome, holoprosencephaly may result in various associated, midline facial defects, including closely set eyes (hypotelorism); an abnormal groove [rarediseases.org]

[…] cause defects such as: cleft lip and palate an abnormally small eye or eyes (microphthalmia) absence of 1 or both eyes (anophthalmia) reduced distance between the eyes (hypotelorism [nhs.uk]

Ring Chromosome 18

Autopsy showed complex malformation of the fetus consisting of cebocephaly, hypotelorism, microphthalmia, severe defects of brain development, and arrest of placental maturation [ncbi.nlm.nih.gov]

Some affected individuals may have an abnormally small head (microcephaly), closely set eyes (hypotelorism), absence of certain front teeth (incisors), incomplete closure [rarediseases.org]

Craniosynostosis

[…] on affected side prominence of the forehead on opposite side tip of the nose deviates away from affected side • Metopic synostosis (trigonocephaly): triangular head shape hypotelorism [augustahealth.org]

In this case, the forehead is narrow, the temples appear pinched, and the eyes are too close together (hypotelorism). [mottchildren.org]

Brachial Plexus Neuropathy

Mildly dysmorphic facial features, including hypotelorism, long nasal bridge, and upslanting palpebral fissures, are present in affected persons in some pedigrees with HNA [ncbi.nlm.nih.gov]

Patients had typical features including hypotelorism, small palpebral fissures and a small oral opening. [ncbi.nlm.nih.gov]

[…] from neuralgic amyotrophy in the frequency of recurrences, the relative freedom from pain in the attacks, the frequency of nerve lesions outside the brachial plexus, and of hypotelorism [ncbi.nlm.nih.gov]

Hypomandibular Faciocranial Dysostosis

Hypoprothrombinemia Hypor-Hypox Hyporeninemic hypoaldosteronism Hyposmia nasal hypoplasia hypogonadism Hypospadias familial Hypospadias mental retardation Goldblatt type Hyposplenism Hypotelorism [wikidoc.org]

Hypor-Hypox * Hyporeninemic hypoaldosteronism * Hyposmia nasal hypoplasia hypogonadism * Hypospadias familial * Hypospadias mental retardation Goldblatt type * Hyposplenism * Hypotelorism [enacademic.com]

Hypoproconvertinemia Hypoprothrombinemia Hyporeninemic hypoaldosteronism Hyposmia nasal hypoplasia hypogonadism Hypospadias familial Hypospadias mental retardation Goldblatt type Hypotelorism [starrepublic.org]

Absent Thumb - Short Stature - Immunodeficiency Syndrome

[…] growth and mental retardation, triangular face, prominent glabella, hypotelorism, bulbous nose, high arch palate, short neck, scoliosis, long slender hands/feet, genu valgum [chr7.org]

Hyperphosphatemia Tetany Flexion contracture Polyneuropathy Hypergonadotropic hypogonadism Insulin resistance Apraxia Sloping forehead Pigmentary retinopathy Bradykinesia Hypotelorism [mendelian.co]

Agammaglobulinemia (X-linked agammaglobulinemia) Defect: Tyrosine kinase in B cells DX: dec all Ig & no B cells(CD19), normal T cells(CD3) TX: IVIG Cleft lip, polydactyly, ocular hypotelorism [quizlet.com]

Acquired Porencephaly

 Associated craniofacial features may also be present which include o proboscis o mono-orbit / cyclopia o mono-nostril o hypotelorism o cebocephaly 25.  The fused cortex [slideshare.net]

[…] present absent or incomplete CC partial separation of thalami partial separation of single ventricle into occipital and temporal horns less severe facial abnormalities: mild hypotelorism [quizlet.com]

[…] disability-dysmorphism syndrome / Hypophosphatemic rickets / Hypoplastic left heart syndrome / Hypospadias familial / Hypospadias-intellectual disability, Goldblatt type syndrome / Hypotelorism [gennome.com]

Congenital Elbow Dislocation

She was identified to have a variant in the CDON gene inherited from her father who had ocular hypotelorism, but no other clinical features. [ncbi.nlm.nih.gov]