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32 Possible Causes for Narrowed Ischia, 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]

  • Kleiner Holmes Syndrome

    superior helix; Deficient auricle; Hypertelorism; Megalophthalmos; Gingival hyperplasia; Prenatal teeth; Bell-shaped thorax; Hypoplastic clavicles; Decreased mineralization[panelapp.genomicsengland.co.uk] […] acetabular roof; Narrowed ischia; Decreased mineralization of pubis; Bending of long bones to varying degrees, particularly femora; Prominent periosteum; Brachydactyly; Areas[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]

  • 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] […] acetabular roof; Narrowed ischia; Decreased mineralization of pubis; [Limbs]; Bending of long bones to varying degrees, particularly femora; Prominent periosteum; [Hands][findzebra.com] Hepatosplenomegaly (rare) GENITOURINARY: [External genitalia, female]; Clitoromegaly SKELETAL: [Skull]; Diminished mineralization of the calvarium; Coronal craniosynostosis; [Pelvis]; Narrow[findzebra.com]

  • 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: Narrowed Ischia
  • Camptodactyly Syndrome Guadalajara Type 1

    Disease definition Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. Summary Epidemiology To date only eight cases have been reported in the literature. Clinical description Dysmorphic features include flat face,[…][orpha.net]

    Missing: Narrowed Ischia
  • 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: Narrowed Ischia
  • 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: Narrowed Ischia
  • 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]

    Missing: Narrowed Ischia
  • 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: Narrowed Ischia
  • Fibrochondrogenesis

    The ilia are small with narrow sacrosciatic notches and medial acetabular spike.[ncbi.nlm.nih.gov] The ischia and pubic bones are short and relatively broad and the fibulae are short.[ 3 – 5 ] Hand and foot contractures have also been observed.[ncbi.nlm.nih.gov]

    Missing: Overfolded Superior Helix

Further symptoms