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18 Possible Causes for 70-80% of Cases Are De Novo and Sporadic, Overfolded Superior Helix

  • Coffin-Lowry Syndrome

    superior helix [ Graham et al 1998 ].[ncbi.nlm.nih.gov] […] macrocephaly; constipation that may be associated with anal anomalies; broad thumbs and halluces; prominent fingertip pads; and small, rounded, cupped ears that often have an overfolded[ncbi.nlm.nih.gov]

  • 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] […] divided nasal tip, depressed nasal bridge, short nasal septum, cleft lip and palate, lip pits, dental abnormalities), the ears (microtic, low-set and/or posteriorly rotated, overfolded[accessanesthesiology.mhmedical.com]

    Missing: 70-80% of Cases Are De Novo and Sporadic
  • Camptodactyly Syndrome Guadalajara Type 1

    Homepage Rare diseases Search Search for a rare disease Camptodactyly syndrome, Guadalajara type 2 Disease definition Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple[…][orpha.net]

    Missing: 70-80% of Cases Are De Novo and Sporadic
  • 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: 70-80% of Cases Are De Novo and Sporadic
  • Kleiner Holmes Syndrome

    superior helix; Deficient auricle; Hypertelorism; Megalophthalmos; Gingival hyperplasia; Prenatal teeth; Bell-shaped thorax; Hypoplastic clavicles; Decreased mineralization[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: 70-80% of Cases Are De Novo and Sporadic
  • Baller-Gerold Syndrome

    superior helix and small anthelix, sometimes cupped, with preauricular tags (fig 1 ).[jmg.bmj.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: 70-80% of Cases Are De Novo and Sporadic
  • Pallister W Syndrome

    superior helix and small anthelix, sometimes cupped, with preauricular tags (fig 1 ).[jmg.bmj.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: 70-80% of Cases Are De Novo and Sporadic
  • Gorlin Syndrome

    The remainder are sporadic and occur as the result of a spontaneous de novo mutation.[invitae.com] Inheritance Approximately 70%–80% of BCNS cases are inherited from an affected parent in an autosomal dominant pattern.[invitae.com] Clinical sensitivity Pathogenic variants in PTCH1 and SUFU account for an estimated 70% and 6% of clinically diagnosed cases of BCNS , respectively.[invitae.com]

    Missing: Overfolded Superior Helix
  • Propionic Acidemia

    There was mild plagiocephaly and overfolding of the superior helix of each ear. The lower lip had loss of tissue in 2 lateral clefts with bulbous tissue in the center.[jamanetwork.com]

    Missing: 70-80% of Cases Are De Novo and Sporadic
  • 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]

    Missing: 70-80% of Cases Are De Novo and Sporadic

Further symptoms