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143 Possible Causes for Narrow, Bell-Shaped Thorax, Overfolded Superior Helix, Seizure

  • 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[] […] malformation Deformed ears Malformed ears Simple ears [ more ] 0000377 Astigmatism Abnormal curving of the cornea or lens of the eye 0000483 Autosomal recessive inheritance 0000007 Bell-shaped[] KCNQ2 Benign familial neonatal seizures, Epileptic encephalopathy, early infantile, Myokymia KCNQ3 Seizures, benign neonatal KCNT1 Epilepsy, nocturnal frontal lobe LGI1 Epilepsy[] face, eye anomalies, small mandible, upslanting palpebral fissure (the distance between the upper & lower eyelids), highly arched palates & preauricular skin tags. severely[]

  • Zellweger Syndrome

    […] nose Upturned nostrils [ more ] 0000463 Aplasia/Hypoplasia of the corpus callosum 0007370 Areflexia Absent tendon reflexes 0001284 Autosomal recessive inheritance 0000007 Bell-shaped[] Patients are characterized by multiple disturbances of lipid metabolism, profound hypotonia and neonatal seizures, and distinct craniofacial malformations.[] Standard epileptic drugs are used for seizure control.[] Ethnicity-specific studies can help narrow this range by highlighting mutations that are present at higher percentages in certain populations.[]

    Missing: Overfolded Superior Helix
  • FGFR2-Related Bent Bone Dysplasia

    Iowa type Hereditary cerebral hemorrhage with amyloidosis, Italian type Hereditary cerebral hemorrhage with amyloidosis, Piedmont type Aldosterone-producing adenoma with seizures[] […] thorax, rhizomelia, brachydactyly, ectodermal features, facial anomalies, end-stage renal disease, growth retardation Short rib – polydactyly, thorax narrowing, rhizomelia[] […] plus, type 5, susceptibility to Sequencing of all coding exons of the gene - - 1.4 GABRD Generalised Epilepsy with febrile seizures plus (GEFS ) Sequencing of all coding[] Scaphocephaly is the most common of the craniosynostosis conditions and is characterized by a long, narrow head.[]

  • Pelviscapular Dysplasia

    […] female genitals 0000061 Ambiguous genitalia, male Ambiguous genitalia in males 0000033 Anterior rounding of vertebral bodies 0008488 Autosomal recessive inheritance 0000007 Bell-shaped[] Related symptoms: Autosomal recessive inheritance Intellectual disability Seizures Global developmental delay Generalized hypotonia SOURCES: OMIM MONDO UMLS More info about[] […] autosomal recessive condition (OMIM:260660) characterised by pelviscapular dysplasia with epiphyseal defects, dwarfism and facial dysmorphism –frontal bossing, hypertelorism, narrow[] […] autosomal recessive, characterised by pelviscapular dysplasia with epiphyseal defects, congenital dwarfism and facial dysmorphism, including frontal bossing, hypertelorism, narrow[]

    Missing: Overfolded Superior Helix
  • Platyspondylic Lethal Skeletal Dysplasia Type San Diego

    It is characterized by short limbs, a narrow, bell-shaped thorax, macrocephaly with a prominent forehead, and flattened vertebral bodies.[] Long-term survivors need neurologic, orthopedic, and audiologic evaluations, CT to monitor for craniocervical constriction, and EEG to monitor for seizure activity.[] Additional symptoms of thanatophoric dysplasia include: Protuberant abdomen Generalized hypotonia Severe growth deficiency Narrow, bell-shaped thorax with short ribs Brachydactyly[] . • Clover leaf shaped skull. • Narrow bell shaped thorax. • Protuberant abdomen. • Marked shortened limbs (micromelia). • Brachydactyly with trident hand configuration. 3.5[]

    Missing: Overfolded Superior Helix
  • Thanatophoric Dysplasia

    It is characterized by short limbs, a narrow, bell-shaped thorax, macrocephaly with a prominent forehead, and flattened vertebral bodies.[] However, for those rare individuals who do survive, there is the development of seizures, progression of craniocervical stenosis, ventilator dependence, and limitations in[] Two fetuses of TD1 were characterized by polyhydramnios, macrocephaly, short limbs, a narrow thoracic cage and curved short femora, but without a cloverleaf skull at 27 and[] Features of Thanatophoric Dysplasia include enlarged head (macrocephaly) with large forehead and prominent, wide-spaced eyes, narrow bell-shaped thorax, normal trunk length[]

    Missing: Overfolded Superior Helix
  • Cerebro-Costo-Mandibular Syndrome

    Chest X-rays will reveal a narrow or bell-shaped thorax and bilateral multiple posterior rib gaps, while mandibular hypoplasia can be confirmed using either X-rays or CT.[] Transient neonatal seizures, nystagmus, strabismus and failure to thrive are also seen in most cases.[] The first boy had muscular hypotonia, severe micrognathia, glossoptosis, short palate, preauricular tag, paraumbilical fibroma, and a small and narrow thorax.[] […] yo̅o̅lər] Etymology: L, cerebrum, brain costa, rib mandibula, mandible an autosomal-recessive syndrome of severe micrognathia and costovertebral abnormalities, including small bell-shaped[]

    Missing: Overfolded Superior Helix
  • Pallister W Syndrome

    superior helix and small anthelix, sometimes cupped, with preauricular tags (fig 1 ).[] My nephew still has giggle fits that are actually seizures.[] Typically, there is narrowing in the aorta producing supravalvular aortic stenosis (SVAS), or narrowing in the pulmonary arteries.[] The narrowed arteries of the lungs hold potential for lasting consequences due to the increased pressure and flow of blood through the lungs.[]

    Missing: Bell-Shaped Thorax
  • Nivelon-Nivelon-Mabille Syndrome

    The syndrome has clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalised chondrodysplasia (bell-shaped thorax, micromelia[] The patient may have seizures, and pharmacologic treatment may interfere with the metabolism of some anesthetic drugs.[] Diseases related with Strabismus and Narrow chest In the following list you will find some of the most common rare diseases related to Strabismus and Narrow chest that can[] […] genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped[]

    Missing: Overfolded Superior Helix
  • Thoracomelic Dysplasia

    Diseases related to Thoracomelic Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing: Symptoms via clinical synopsis from OMIM: 57 Thorax: bell-shaped[] 6651 6700 番を表示 (全 8148 件) 英文 和文 略語 psychologist 心理学者 psychomotor retardation 精神運動発達遅滞 psychomotor seizure 精神運動発作 psychonephrology サイコネフロロジー psychosis 精神病 psychosocial dwarfism[] […] chest Low chest circumference Narrow shoulders [ more ] 0000774 Round face Circular face Round facial appearance Round facial shape [ more ] 0000311 Short ribs 0000773 5%[] […] syndrome Multicentric carpo-tarsal osteolysis with or without nephropathy Multicentric osteolysis-nodulosis-arthropathy spectrum Multiple congenital anomalies-hypotonia-seizures[]

    Missing: Overfolded Superior Helix

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