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444 Possible Causes for Cleft Vertebrae, Hyperconvex Fingernails, Overfolded Superior Helix

  • Wolf-Hirschhorn Syndrome

    Wolf-Hirschhorn syndrome is a condition that affects many parts of the body. The major features of this disorder include a characteristic facial appearance, delayed growth and development, intellectual disability, and seizures. Almost everyone with this disorder has distinctive facial features, including a broad, flat[…][ghr.nlm.nih.gov]

    Missing: Overfolded Superior Helix
  • Coffin-Lowry Syndrome

    fingernails 0001812 Hypoplasia of the maxilla Decreased size of maxilla Decreased size of upper jaw Maxillary deficiency Maxillary retrusion Small maxilla Small upper jaw[rarediseases.info.nih.gov] superior helix [ Graham et al 1998 ].[ncbi.nlm.nih.gov] The fingernails may be markedly hyperconvex. Flat feet and shortening of one of the lower limbs may occur and contribute to accentuate the clumsy, waddling gait ().[jped.com.br]

    Missing: Cleft Vertebrae
  • Lenz-Majewski Syndrome

    Flexion contracture of toe Distichiasis Wrist flexion contracture Constrictive median neuropathy Coronal cleft vertebrae Wormian bones Congenital hip dislocation Aplasia[mendelian.co] fingernails 0001812 Hypogonadism Decreased activity of gonads 0000135 Hypoplastic fingernail Small fingernail Underdeveloped fingernail [ more ] 0001804 Kyphosis Hunched[rarediseases.info.nih.gov] Shoulder flexion contracture Pursed lips Prenatal movement abnormality Abnormality of the pharynx Percussion myotonia Weak voice Protrusio acetabuli Abnormally ossified vertebrae[mendelian.co]

    Missing: Overfolded Superior Helix
  • Malignant Hyperthermia - Arthrogryposis - Torticollis

    Distichiasis Constrictive median neuropathy Mitochondrial myopathy Coronal cleft vertebrae Abnormality of the pharynx Aplasia/Hypoplasia affecting the eye Blepharospasm Abnormal[mendelian.co] 0100556 Hyperconvex fingernails 0001812 Hypoplastic fingernail Small fingernail Underdeveloped fingernail [ more ] 0001804 Inguinal hernia 0000023 Kyphosis Hunched back Round[rarediseases.info.nih.gov] fingernails 59 32 occasional (7.5%) Occasional (29-5%) HP:0001812 20 mask-like facies 59 32 hallmark (90%) Very frequent (99-80%) HP:0000298 21 arthrogryposis multiplex congenita[malacards.org]

    Missing: Overfolded Superior Helix
  • 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] […] and coccyx, hypoplasia of corpus callusum with mild dilatation of the lateral ventricles.(8) Ozcelik reported a 4 year old boy with unilateral complete right cleft lip and[rmsjournal.org] […] 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: Hyperconvex Fingernails
  • FGFR2-Related Bent Bone Dysplasia

    Tanaka T, Uhthoff HK: Coronal cleft of vertebrae, a variant of normal enchondral ossification. Acta Orthop Scand 1983;54:389-395.[karger.com]

    Missing: Hyperconvex Fingernails
  • Bonnemann-Meinecke-Reich Syndrome

    Flexion contracture of toe Distichiasis Wrist flexion contracture Constrictive median neuropathy Coronal cleft vertebrae Wormian bones Congenital hip dislocation Aplasia[mendelian.co] fingernails Delayed eruption of permanent teeth Sclerosis of skull base Abnormal nasolacrimal system morphology Chordee Prominent superficial veins Lacrimal duct stenosis[mendelian.co] Shoulder flexion contracture Pursed lips Prenatal movement abnormality Abnormality of the pharynx Percussion myotonia Weak voice Protrusio acetabuli Abnormally ossified vertebrae[mendelian.co]

    Missing: Overfolded Superior Helix
  • Simpson Dysmorphia Syndrome

    , neonatal meningitis AG0857 d (ECACC) Exon-3 missense(T1076A) / Pre- and postnatal overgrowth, characteristic facial features, cleft lip and palate AG0893(ECACC) Exon-3 frameshift[doi.org] fingernails - Umbilical hernia - Ureterocele / cystic dilation / dilatation of the ureter / ureterovasical stenosis - Ventricular septal defect / interventricular communication[csbg.cnb.csic.es] […] of the lower lip, postaxial hexadactyly of all four limbs and an additional lumbal vertebra.[doi.org]

    Missing: Overfolded Superior Helix
  • Kleiner Holmes Syndrome

    , polydactyly, hyperextension of head and neck, and large echogenic kidneys. [4] Other anomalies that may be detected by USG include congenital heart disease, median cleft[ijri.org] superior helix; Deficient auricle; Hypertelorism; Megalophthalmos; Gingival hyperplasia; Prenatal teeth; Bell-shaped thorax; Hypoplastic clavicles; Decreased mineralization[panelapp.genomicsengland.co.uk] […] hypoplasia, and symphalangism; and (d) almost normal pelvis. [4] Prenatal diagnosis by USG is based on the findings of short long bones, very short ribs (narrow thorax), normal vertebrae[ijri.org]

    Missing: Hyperconvex Fingernails
  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    Vertebral anomalies include hemivertebra, butterfly vertebrae, and coronal clefts. Supernumerary or absent ribs occur in 20 percent of affected individuals.[dermatologyadvisor.com] fingernails and toenails; may be normal appearing; decreased growth velocity and delayed puberty Follicle-stimulating hormone, karyotyping Table 3.[aafp.org] fingernails and toenails; may be normal appearing; decreased growth velocity and delayed puberty Follicle-stimulating hormone, karyotyping If the initial evaluation suggests[aafp.org]

    Missing: Overfolded Superior Helix

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