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3,338 Possible Causes for Cleft Palate, Open Metopic Suture, Overfolded Superior Helix

  • FGFR2-Related Bent Bone Dysplasia

    palate, major organ (eg, cardiac) defects Perinatal and neonatal lethality occurs EBP Chondrodysplasia punctata 2, X-linked XLD Mild disease – no symptoms Severe disease[arupconsult.com] Congenital malformation characterized by micrognathia, glossoptosis and cleft palate.[icd10data.com] Cleft palate in Pfeiffer syndrome.[ncbi.nlm.nih.gov]

  • Pallister W Syndrome

    superior helix and small anthelix, sometimes cupped, with preauricular tags (fig 1 ).[jmg.bmj.com] The features of Pallisker killian rarely involved cleft palate and anorectal anomalies (2).[latunisiemedicale.com] The symptoms usually include microbrachycephaly, synostosis involving chiefly the cranial suture, open sagittal and lamdoid sutures, patent metopic suture, hypertelorism,[whonamedit.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] palate Hypsarrhythmia; adducted thumbs; abnormal genitalia Smith-Lemli-Opitz syndrome DHCR7 AR Growth retardation; microcephaly; moderate-to-severe ID; cleft palate; cardiac[ncbi.nlm.nih.gov] Symptoms INHERITANCE: Autosomal dominant HEAD AND NECK: [Head]; Open metopic suture; [Face]; Midface hypoplasia; Micrognathia; [Ears]; Low-set ears; Overfolded superior helix[findzebra.com]

  • Kleiner Holmes Syndrome

    superior helix; Deficient auricle; Hypertelorism; Megalophthalmos; Gingival hyperplasia; Prenatal teeth; Bell-shaped thorax; Hypoplastic clavicles; Decreased mineralization[panelapp.genomicsengland.co.uk] Martinez Monasterio Pinheiro syndrome 0 *Cleft Lip *Cleft Palate *Hair Diseases *Syndactyly.[reference.md] Lip with or without Cleft Palate, Nonsyndromic, 7 cleft lip-palate-ectodermal dysplasia syndrome Cleft Palate with Ankyloglossia Cleft Palate, Cardiac Defect, Genital Anomalies[rgd.mcw.edu]

  • Trigonocephaly

    Abstract A boy with trigonocephaly, cleft palate, multiple minor anomalies, flexion deformities of elbows, cryptorchidism, and severe muscular hypotonia had an unbalanced[ncbi.nlm.nih.gov] Welcker's (1, 4) anatomical diagram shows the metopic suture of his patient open.[doi.org] Cleft Palate J 27:362–367 Google Scholar 12.[doi.org]

    Missing: Overfolded Superior Helix
  • Branchio-Oculo-Facial Syndrome

    […] with hypoplastic superior helix, posterior and preauricular pit, supraauricular sinuses, conductive hearing loss secondary to fusion of the middle ear ossicles), the eyes[accessanesthesiology.mhmedical.com] palate.[ncbi.nlm.nih.gov] Branchio-oculo-facial syndrome (BOFS) is a rare autosomal-dominant cleft palate-craniofacial disorder with variable expressivity.[ncbi.nlm.nih.gov]

    Missing: Open Metopic Suture
  • Cleidocranial Dysplasia

    The proband in this CCD-affected family showed a specific clinical phenotype of CCD that included a median pseudo-cleft palate, which is a presentation of this mutation that[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] A high-arch palate or a condition in which there is a hole in the roof of the mouth (cleft palate) may be present.[web.archive.org]

    Missing: Overfolded Superior Helix
  • Isolated Trigonocephaly

    Cleft palate without cleft lip is a distinct disorder.[sonoworld.com] Causes The metopic suture is usually open at birth and fusion normally occurs in the first 12 months of life.[skullbaseinstitute.com] suture,craniosynostosis Salahiddine Saghir et al.[panafrican-med-journal.com]

    Missing: Overfolded Superior Helix
  • Popliteal Pterygium Syndrome

    He was born with complete bilateral cleft lip and complete cleft palate on the left side and incomplete cleft palate on the right side and syngnathia with 4 fibrous bands[ncbi.nlm.nih.gov] She had a pear shaped head, elongated face, a ridged metopic suture, low set ears, high arched eyebrows, right upper lid ptosis, relative left proptosis, hypoplastic maxilla[cags.org.ae] The orofacial findings included cleft lip, cleft palate, lower lip pits, a few missing teeth, and severely decayed teeth.[ncbi.nlm.nih.gov]

    Missing: Overfolded Superior Helix
  • Autosomal-Recessive Non-Lethal Multiple Pterygium Syndrome

    […] lip with partial cleft palate, and bilateral rocker bottom deformity of feet.[jfmpc.com] She had a pear shaped head, elongated face, a ridged metopic suture, low set ears, high arched eyebrows, right upper lid ptosis, relative left proptosis, hypoplastic maxilla[cags.org.ae] They had an expressionless face with ptosis, micrognathia, cleft palate and prominent nasolabial folds. Both had undescended testicles.[ashg.org]

    Missing: Overfolded Superior Helix

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