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232 Possible Causes for Cone-Shaped Epiphyses of Phalanges, Open Metopic Suture, Overfolded Superior Helix

  • FGFR2-Related Bent Bone Dysplasia

    NIH Rare Diseases : 53 Bent bone dysplasia syndromeis an often lethal skeletal disorder characterized by poor mineralization of the skull (calvarium), craniosynostosis, underdeveloped (hypoplastic) pubic bone (pubis) and clavicles, osteopenia, and bent long bones. Unusual facial features include low-set ears, widely[…][malacards.org]

    Missing: Cone-Shaped Epiphyses of Phalanges
  • Cleidocranial Dysplasia

    epiphyses of the phalanges of the hand Cone-shaped end part of finger bones 0010230 Delayed eruption of permanent teeth Delayed eruption of adult teeth 0000696 Delayed eruption[rarediseases.info.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] (c) Lateral skull radiograph showing hypoplasia of mid-facial bones, open sutures, wormian bones and metopic sutures.[indjos.com]

    Missing: Overfolded Superior Helix
  • 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] (phalanges); Cone-shaped epiphyses (phalanges); Abnormal finger flexion creases; [Feet]; Gap between first and second toes; Talipes; Pes planus SKIN, NAILS, HAIR: [Skin];[findzebra.com] Symptoms INHERITANCE: Autosomal dominant HEAD AND NECK: [Head]; Open metopic suture; [Face]; Midface hypoplasia; Micrognathia; [Ears]; Low-set ears; Overfolded superior helix[findzebra.com]

  • Trichorhinophalangeal Syndrome

    TRPSII is characterized by sparse scalp hair, a long nose with a bulbous tip, long flat philtrum, cone-shaped epiphyses of the phalanges, retarded bone age in infancy and[ncbi.nlm.nih.gov] […] bulbous nose, upper lip deformity, protruding ears, mandibular hypoplasia, and cone-shaped epiphyses of the phalanges.[ncbi.nlm.nih.gov] The radiographic findings include cone-shaped epiphyses of the middle phalanges with shortened metacarpals. Genetic findings include deletion of chromosome band 8q24.12.[ncbi.nlm.nih.gov]

    Missing: Open Metopic Suture Overfolded Superior Helix
  • Metaphyseal Acroscyphodysplasia

    Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses.[rarediseases.info.nih.gov] […] drugs.Orpha Number: 1240Disease definitionMetaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped[malacards.org] […] acroscyphodysplasia Disease definition Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped[orpha.net]

    Missing: Open Metopic Suture Overfolded Superior Helix
  • Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

    epiphyses and hypoplastic terminal phalanges of fingers (OMIM: 601370).[jcrpe.org] However, management of multiple suture craniosynostosis requires a multidisciplinary approach for reconstruction of face with orbital advancements.[ijaweb.org] Note hypoplastic phalanges (arrow) and cone-shaped epiphyses. Fig. 3. Brain CT scan. Semilobar holoprosencephaly. Severe Expression of the Genoa Syndrome?[dev.docslide.net]

    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] metopic suture; Midface hypoplasia; Micrognathia; Low-set ears; Overfolded superior helix; Deficient auricle; Hypertelorism; Megalophthalmos; Gingival hyperplasia; Prenatal[panelapp.genomicsengland.co.uk] […] mental retardation [; ; ]; #613659:Gastric cancer, somatic [; ; ]; #614592:Bent bone dysplasia syndrome [Open metopic suture; Midface hypoplasia; Micrognathia; Low-set ears; Overfolded[panelapp.genomicsengland.co.uk]

    Missing: Cone-Shaped Epiphyses of Phalanges
  • 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] […] also been a term used to describe this condition. 10 Clinical features EAR ANOMALIES/HEARING LOSS External auricular anomalies in TBS typically include small ears with an overfolded[jmg.bmj.com]

    Missing: Cone-Shaped Epiphyses of Phalanges
  • Acrodysostosis

    He had characteristic facies with an upturned nose and cone-shaped epiphyses of most phalanges.[jstage.jst.go.jp] These disorders are associated with phalangeal cone shaped epiphyses of the hands.[ncbi.nlm.nih.gov] epiphyses of the phalanges of the hand Cone-shaped end part of finger bones 0010230 Congenital onset Symptoms present at birth 0003577 Delayed speech and language development[rarediseases.info.nih.gov]

    Missing: Open Metopic Suture Overfolded Superior Helix
  • Parietal Foramina with Cleidocranial Dysplasia

    Hand and foot: Pseudoepiphyses at the base of the metacarpal bones, abnormal phalangeal tufts of the hands and feet, short middle phalanges of the fifth fingers, and cone-shaped[wikidoc.org] On palpation, a depression over the sagittal suture with presence of metopic suture of the frontal bone was felt and the patient could approximate her shoulders in midline[jnsbm.org] epiphyses of the distal phalanges. [15] Extremities: Coxa vara, coxa valga, and notching capital femoral epiphysis.[wikidoc.org]

    Missing: Overfolded Superior Helix

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