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711 Possible Causes for Moderately Short Stature, Open Metopic Suture, Overfolded Superior Helix

  • Cleidocranial Dysplasia

    short stature, delayed eruption of permanent dentition and supernumerary teeth.[ncbi.nlm.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
  • 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: Moderately Short Stature
  • Pallister W Syndrome

    superior helix and small anthelix, sometimes cupped, with preauricular tags (fig 1 ).[jmg.bmj.com] short stature, facial Multiple malformation syndrome, small stature, without skeletal dysplasia Nager syndrome Oculocerebrofacial syndrome Kaufman type Oculodento-osseous[icdlist.com] The symptoms usually include microbrachycephaly, synostosis involving chiefly the cranial suture, open sagittal and lamdoid sutures, patent metopic suture, hypertelorism,[whonamedit.com]

  • Growth Failure

    4 alone) ( 50%), short stature, obesity, hypotonia, characteristic facial appearance, autism or autism spectrum disorder (30%), joint hypermobility/dislocation, and scoliosis[cyberleninka.org] Other indications GH responses in other short stature syndromes, such as Down’s, and Noonan syndromes, have all shown similar responses to those observed with Turner syndrome[pharmaceutical-journal.com] The main phenotypic features, reviewed by Leroy et al. [15], include mild-moderate developmental delay/intellectual disability, brachymetaphalangy of digits 3-5 (often digit[cyberleninka.org]

    Missing: Open Metopic Suture Overfolded Superior Helix
  • Kaufman Oculocerebrofacial Syndrome

    , and short stature in a family from Oman (Ropers et al. 2011).[docksci.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] A single homozygous KIAA1033 mutation has previously been suggested as the cause of moderate to severe ID, poor language and adaptive skills, delayed fine motor development[docksci.com]

  • Camptodactyly Syndrome Guadalajara Type 1

    […] femoral neck Moderately short stature Cigarette-paper scars Thenar muscle atrophy Flattened epiphysis Flat capital femoral epiphysis Broad femoral neck Prominent superficial[mendelian.co] short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures,[mendelian.co] SYNDROME-LIKE Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate[mendelian.co]

    Missing: Open Metopic Suture
  • Aarskog-Scott Syndrome

    A growth spurt in late teens, generally, results in a moderate short stature.[orpha.net] They frequently have mild to moderate short stature during childhood, but their growth usually catches up with that of their peers during puberty.[en.wikipedia.org] Size is generally normal at birth, but growth is slow in infancy and childhood, leading to short stature until puberty, which is often delayed.[orpha.net]

    Missing: Open Metopic Suture 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: Moderately Short Stature
  • Familial Scaphocephaly Syndrome

    A short, stock stature is also common because of the shortened proximal long bones (of the upper arms and legs, which at birth are sometimes mistaken for dwarfism).[craniokids.co.za] Causes The metopic suture is usually open at birth and fusion normally occurs in the first 12 months of life.[skullbaseinstitute.com] Only one suture - the metopic - normally closes during the first few years of life, and the others remain open into adulthood.[craniofacial.vcu.edu]

    Missing: Overfolded Superior Helix
  • Craniosytosis Type 4

    Hunter Rudd Hoffmann syndrome MedGen UID: 374138 • Concept ID: C1839125 • Disease or Syndrome Syndrome with characteristics of short stature, trigonocephaly and developmental[ncbi.nlm.nih.gov] All sutures remain open until adulthood, except for the metopic suture which usually closes between 6 and 12 months of age.[childrens.com] Figure 1: (a) X-ray of the skull with fused metopic suture and hypotelorism (b) intraoperative image showing opening up of the metopic suture and reshaped fronto-orbital bandeau[jclpca.org]

    Missing: Overfolded Superior Helix

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