Possible Causes for hypotelorism 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] * Hypotelorism (rarely cyclopia). * Small ears (low set). [fetalultrasound.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] Trigonocephaly The procedure is indicated only in patients with more severe hypotelorism on physical examination. [ncbi.nlm.nih.gov] 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] Isolated Trigonocephaly Children with nonsyndromatic isolated metopic suture synostosis suffer from a significant deformity of the supraorbital ridges, the temporal regions and hypotelorism. [pubfacts.com] […] autosomal dominant External references: 2 OMIM references - No MeSH references Very frequent - Autosomal dominant inheritance - Trigonocephaly Frequent - Broad nasal root - Hypotelorism [csbg.cnb.csic.es] Radiological ndings in plain radiographs are ossicationof metopic suture and anterior fontanel, hypotelorism anda broadening of the occipital region. [docslide.com.br] 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] Blepharofacioskeletal Syndrome […] 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] Schilbach-Rott syndrome is an autosomal dominant disorder characterized by hypotelorism, epicanthal folds, cleft palate, dysmorphic facies, and hypospadias in males. [ncbi.nlm.nih.gov] Patients had typical features including hypotelorism, small palpebral fissures and a small oral opening. [researchgate.net] Acrootoocular Syndrome Name Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies Synonyms ACROOTOOCULAR SYNDROME, AOO SYNDROME Classification developmental, eye, genetic [mousephenotype.org] Human phenotypes related to Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies: 60 33 (show all 50) # Description HPO Frequency Orphanet Frequency [malacards.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] 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] 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] 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] 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] It is associated with orbital hypotelorism. The resultant shape gives rise to triangular shaped skull. [thamburaj.com] 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] 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] Malignant Hyperthermia - Arthrogryposis - Torticollis […] 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] 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] Hypor–Hypox[edit] Hyporeninemic hypoaldosteronism Hyposmia nasal hypoplasia hypogonadism Hypospadias familial Hypospadias mental retardation Goldblatt type Hyposplenism Hypotelorism [sosu.us] 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 [ncbi.nlm.nih.gov] 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] 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] 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] 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] 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] Rozin 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] 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] 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] 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. [msdmanuals.com] 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] 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] Cyclopia In view of the position of the single placode in this embryonic face, as described above, it is most likely that this is a preliminary stage of hypotelorism. [ncbi.nlm.nih.gov] In most cases of alobar holoprosencephaly, patients have obvious midline facial deformities, such as midfacial clefts, a primitive nasal structure and hypotelorism. [appliedradiology.com] A macroscopic study on the missing elements in cyclopia (a single eye or closely approximated eyes with all intergrades in a single orbit) with or without proboscis and hypotelorism [ncbi.nlm.nih.gov] 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] Cloverleaf Skull Thanatophoric dysplasia type 2 COH syndrome (craniosynostosis, ocular hypotelorism, thumb duplication, small 5th finger, micropenis, bifid scrotum). [fetalultrasound.com] Congenital anomalies of the face affect 1 in ____ births List 5 examples of congenital facial anomalies Cleft lip Hypotelorism Hypertelorism Micrognathia Cleft palate What [quizlet.com] Patients have hypotelorism with narrowing of the area between the medial canthi, and their orbits are rotated posterolaterally. [61] See the image below. [emedicine.medscape.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] Hypomandibular Faciocranial Dysostosis Hypoproconvertinemia Hypoprothrombinemia Hyporeninemic hypoaldosteronism Hyposmia nasal hypoplasia hypogonadism Hypospadias familial Hypospadias mental retardation Goldblatt type Hypotelorism [starrepublic.org] Hypor-Hypox * Hyporeninemic hypoaldosteronism * Hyposmia nasal hypoplasia hypogonadism * Hypospadias familial * Hypospadias mental retardation Goldblatt type * Hyposplenism * Hypotelorism [enacademic.com] Hypoprothrombinemia Hypor-Hypox Hyporeninemic hypoaldosteronism Hyposmia nasal hypoplasia hypogonadism Hypospadias familial Hypospadias mental retardation Goldblatt type Hyposplenism Hypotelorism [wikidoc.org] Craniosynostosis Type 3 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] Reduced expansion of the frontal and facial bones results in hypotelorism of varying degree. [rrnursingschool.biz] A facial feature of metopic synostosis is hypotelorism ; in the frontal view, it can be seen that the width between the eyes is smaller than usual. [11] Plagiocephaly [ edit [en.wikipedia.org]
