Create issue ticket

17 Possible Causes for Diminished Mineralization of the Calvarium, 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

    […] of inferior margin of scapula; Hepatosplenomegaly (rare); Hepatosplenomegaly (rare); Clitoromegaly; Diminished mineralization of the calvarium; Coronal craniosynostosis;[panelapp.genomicsengland.co.uk] superior helix; Deficient auricle; Hypertelorism; Megalophthalmos; Gingival hyperplasia; Prenatal teeth; Bell-shaped thorax; Hypoplastic clavicles; Decreased mineralization[panelapp.genomicsengland.co.uk] Overfolded superior helix; Deficient auricle; Hypertelorism; Megalophthalmos; Gingival hyperplasia; Prenatal teeth; Bell-shaped thorax; Hypoplastic clavicles; Decreased mineralization[panelapp.genomicsengland.co.uk]

  • Kaufman Oculocerebrofacial Syndrome

    mineralization of the calvarium; Coronal craniosynostosis; [Pelvis]; Narrow acetabular roof; Narrowed ischia; Decreased mineralization of pubis; [Limbs]; Bending of long[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] […] of scapula ABDOMEN: [Liver]; Hepatosplenomegaly (rare); [Spleen]; Hepatosplenomegaly (rare) GENITOURINARY: [External genitalia, female]; Clitoromegaly SKELETAL: [Skull]; Diminished[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: Diminished Mineralization of the Calvarium
  • Camptodactyly Syndrome Guadalajara Type 1

    Lynn T. Staheli , Judith G. Hall , Kenneth M. Jaffe , Diane O. Paholke Cambridge University Press , ٢٨‏/٠٤‏/١٩٩٨ - 178 من الصفحات The term arthrogryposis describes a range of congenital contractures that lead to childhood deformities. It encompasses a number of syndromes and sporadic deformities that are rare[…][books.google.com]

    Missing: Diminished Mineralization of the Calvarium
  • 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: Diminished Mineralization of the Calvarium
  • 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: Diminished Mineralization of the Calvarium
  • 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: Diminished Mineralization of the Calvarium
  • 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: Diminished Mineralization of the Calvarium
  • 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: Diminished Mineralization of the Calvarium

Further symptoms