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17 Possible Causes for Mineralization of Pubis Decreased, 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] ; Narrow acetabular roof; Narrowed ischia; Decreased mineralization of pubis; Bending of long bones to varying degrees, particularly femora; Prominent periosteum; Brachydactyly[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] […] of the calvarium; Coronal craniosynostosis; [Pelvis]; Narrow acetabular roof; Narrowed ischia; Decreased mineralization of pubis; [Limbs]; Bending of long bones to varying[findzebra.com] ABDOMEN: [Liver]; Hepatosplenomegaly (rare); [Spleen]; Hepatosplenomegaly (rare) GENITOURINARY: [External genitalia, female]; Clitoromegaly SKELETAL: [Skull]; Diminished mineralization[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: Mineralization of Pubis Decreased
  • 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: Mineralization of Pubis Decreased
  • 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: Mineralization of Pubis Decreased
  • 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: Mineralization of Pubis Decreased
  • 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: Mineralization of Pubis Decreased
  • 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: Mineralization of Pubis Decreased
  • Auriculocondylar Syndrome

    Narrow mouth Overfolding of the superior helices Postauricular skin tag Posteriorly rotated ears Preauricular skin tag Round face Stenosis of the external auditory canal[dovemed.com] helix 0008559 Impaired mastication Chewing difficulties Chewing difficulty Difficulty chewing [ more ] 0005216 Low-set ears Low set ears Lowset ears [ more ] 0000369 Overfolding[rarediseases.info.nih.gov] […] ear Dental crowding Dental malocclusion Hypoplastic superior helix Glossoptosis Low-set ears Macrocephaly Mandibular condyle aplasia Mandibular condyle hypoplasia Micrognathia[dovemed.com]

    Missing: Mineralization of Pubis Decreased

Further symptoms