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2,182 Possible Causes for Hypertelorism, Open Metopic Suture, Overfolded Superior Helix

  • FGFR2-Related Bent Bone Dysplasia

    Dysmorphic facial features included low-set ears, hypertelorism, midface hypoplasia, prematurely erupted fetal teeth, and micrognathia.[malacards.org] […] craniosynostosis, underdeveloped (hypoplastic) pubic bone (pubis) and clavicles, osteopenia, and bent long bones. [1] Unusual facial features include low-set ears, widely spaced eyes (hypertelorism[rarediseases.info.nih.gov] Involvement in Disease: Crouzon syndrome: An autosomal dominant syndrome characterized by craniosynostosis, hypertelorism, exophthalmos and external strabismus, parrot-beaked[ab-y-ss.com]

  • Pallister W Syndrome

    superior helix and small anthelix, sometimes cupped, with preauricular tags (fig 1 ).[jmg.bmj.com] The symptoms usually include microbrachycephaly, synostosis involving chiefly the cranial suture, open sagittal and lamdoid sutures, patent metopic suture, hypertelorism,[whonamedit.com] […] nervous system Excludes: hemangioma (228.02) neurofibromatosis (237.7) peripheral, sympathetic, and parasympathetic nerves and ganglia (215.0-215.9) retrobulbar (224.1) 376.41 Hypertelorism[genedx.com]

  • Kaufman Oculocerebrofacial Syndrome

    Symptoms INHERITANCE: Autosomal dominant HEAD AND NECK: [Head]; Open metopic suture; [Face]; Midface hypoplasia; Micrognathia; [Ears]; Low-set ears; Overfolded superior helix[findzebra.com] Other anomalies can be present: long thin hands and feet, ambiguous genitalia, hypertelorism, etc. An autosomal recessive mode of inheritance seems most likely.[orpha.net] Other anomalies can be present: long thin hands and feet, ambiguous genitalia, hypertelorism, etc.[malacards.org]

  • Coffin-Lowry Syndrome

    superior helix [ Graham et al 1998 ].[ncbi.nlm.nih.gov] 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]

    Missing: Open Metopic Suture
  • Cleidocranial Dysplasia

    The 1-year-old daughter was macrocephalic and brachycephalic, and had midface hypoplasia and hypertelorism. Plain radiographs revealed aplasia of the clavicles.[ncbi.nlm.nih.gov] We report a 19-year-old woman with opened metopic and sagittal sutures and delayed closure of the anterior fontanelle.[ncbi.nlm.nih.gov] The boy had elongated facies with midfacial hypoplasia, depressed nasal bridge with hypertelorism. His anterior fontanelle was open about 3/1.5 cm.[ncbi.nlm.nih.gov]

    Missing: Overfolded Superior Helix
  • Cloverleaf Skull

    Facial anomalies exopthalmos. hypertelorism. downward displaced ears. flat nasal root. high forehead. mid- facial hypoplasia.[fetalultrasound.com] Cranio-facial CT scan with three-dimensional reconstruction: wide open metopic suture with absence of coronal sutures (a, b).[em-consulte.com] Physical examination showed a closed sagittal suture, a laterally fused coronal suture, and open temporal, metopic, and lambdoid sutures ( Figures 1-3 ).[consultant360.com]

    Missing: Overfolded Superior Helix
  • Familial Scaphocephaly Syndrome

    Definition An autosomal dominant craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, hypertelorism, maxillary retrusion, and mild intellectual disability[uniprot.org] Causes The metopic suture is usually open at birth and fusion normally occurs in the first 12 months of life.[skullbaseinstitute.com] […] death: - Type of inheritance: autosomal dominant External references: 1 OMIM reference - No MeSH references Very frequent - Autosomal dominant inheritance - High forehead - Hypertelorism[csbg.cnb.csic.es]

    Missing: Overfolded Superior Helix
  • Encephalocele

    […] rather than true orbital hypertelorism and the presence of secondary trigonocephaly), careful planning of the bone movements to correct these deformities, and attention to[ncbi.nlm.nih.gov] The patients have an open metopic suture extending widely to the nasal radix producing hypertelorism accompanied by interfrontal herniation of frontal lobes.[ncbi.nlm.nih.gov] The index is higher than 42 in hypertelorism in North American Caucasians [ 11 ].[jmedicalcasereports.com]

    Missing: Overfolded Superior Helix
  • Kleiner Holmes Syndrome

    superior helix; Deficient auricle; Hypertelorism; Megalophthalmos; Gingival hyperplasia; Prenatal teeth; Bell-shaped thorax; Hypoplastic clavicles; Decreased mineralization[panelapp.genomicsengland.co.uk] ; Poland Syndrome Other names Polysyndactyly; Syndactylies; Syndactylias; Syndactylia Substance CAS Registry & name Categories Source Naguib- Richieri- Costa syndrome 0 *Hypertelorism[reference.md] , microtia, facial clefting syndrome Hypertelorism, Severe, with Midface Prominence, Myopia, Mental Retardation, and Bone Fragility Hypertrichosis, Hyperkeratosis, Mental[rgd.mcw.edu]

  • Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

    […] malformation disorder characterized by sagittal craniosynostosis (see this term), Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism[malacards.org] However, management of multiple suture craniosynostosis requires a multidisciplinary approach for reconstruction of face with orbital advancements.[ijaweb.org] […] malformation 0001305 Dolichocephaly Long, narrow head Tall and narrow skull [ more ] 0000268 Frontal bossing 0002007 Hydrocephalus Too much cerebrospinal fluid in the brain 0000238 Hypertelorism[rarediseases.info.nih.gov]

    Missing: Overfolded Superior Helix

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