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46 Possible Causes for Narrow, Bell-Shaped Thorax, Overfolded Superior Helix, Single Transverse Palmar Crease

  • 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] […] 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[rarediseases.info.nih.gov] face, eye anomalies, small mandible, upslanting palpebral fissure (the distance between the upper & lower eyelids), highly arched palates & preauricular skin tags. severely[signssymptoms.org] transverse palmar crease Feeding difficulties in infancy Narrow forehead Brachydactyly Hypoplasia of the corpus callosum Craniosynostosis Constipation Hypermetropia Coloboma[mendelian.co]

  • 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[rarediseases.info.nih.gov] Ethnicity-specific studies can help narrow this range by highlighting mutations that are present at higher percentages in certain populations.[ncbi.nlm.nih.gov] transverse palmar crease 0000954 Subependymal cysts 0002416 Talipes equinovarus Club feet Club foot Clubfeet Clubfoot [ more ] 0001762 Ulnar deviation of the hand 0009487[rarediseases.info.nih.gov] […] palate Narrow, high-arched roof of mouth Narrow, highly arched roof of mouth [ more ] 0002705 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Hypoplastic[rarediseases.info.nih.gov]

    Missing: Overfolded Superior Helix
  • 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[rarediseases.info.nih.gov] transverse palmar crease Spina bifida occulta Preauricular skin tag Intellectual disability, progressive Decreased body weight Wide anterior fontanel Brain atrophy Wide intermamillary[mendelian.co] […] autosomal recessive condition (OMIM:260660) characterised by pelviscapular dysplasia with epiphyseal defects, dwarfism and facial dysmorphism –frontal bossing, hypertelorism, narrow[newmedicalterms.com] […] autosomal recessive, characterised by pelviscapular dysplasia with epiphyseal defects, congenital dwarfism and facial dysmorphism, including frontal bossing, hypertelorism, narrow[medical-dictionary.thefreedictionary.com]

    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.[ncbi.nlm.nih.gov] transverse palmar crease Hydronephrosis Toe syndactyly Anal atresia Flexion contracture Upslanted palpebral fissure Short palpebral fissure Wide mouth Feeding difficulties[mendelian.co] The prenatal ultrasound showed short straight femurs, prominent forehead, narrow chest, skin edema, short limbs, and cloverleaf skull consistent with the diagnosis of TD2.[ncbi.nlm.nih.gov] Features of Thanatophoric Dysplasia include enlarged head (macrocephaly) with large forehead and prominent, wide-spaced eyes, narrow bell-shaped thorax, normal trunk length[endingawantedpregnancy.com]

    Missing: Overfolded Superior Helix
  • Coffin-Lowry Syndrome

    superior helix [ Graham et al 1998 ].[ncbi.nlm.nih.gov] transverse palmar crease 0000954 Sporadic No previous family history 0003745 Telecanthus Corners of eye widely separated 0000506 Thick eyebrow Bushy eyebrows Dense eyebrow[rarediseases.info.nih.gov] CLINICAL CASE: Male patient with Coffin-Lowry syndrome who evolved with narrow cervical canal plus myelomalacia at short age, making decompression from C3 to C6 and instrumentation[ncbi.nlm.nih.gov] Together with his small size, short limbs and fingers, and facial appearance, the narrowing of the foramen magnum lead to the initial clinical misdiagnosis of hypochondroplasia[ncbi.nlm.nih.gov]

    Missing: Bell-Shaped Thorax
  • Distal Symphalangism

    […] genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped[mendelian.co] transverse palmar crease Symptoms // Phenotype % cases Autosomal recessive inheritance Uncommon - Between 30% and 50% cases Bilateral single transverse palmar creases Uncommon[mendelian.co] Symptoms - Symphalangism- distal- with microdontia- dental pulp stones- and narrowed zygomatic arch Small front teeth Narrow zygomatic arch Fused joints in ends of fingers[checkorphan.org] (29-5%) 20 tall stature 33 HP:0000098 21 short 1st metacarpal 33 HP:0010034 22 broad foot 33 HP:0001769 23 single transverse palmar crease 33 HP:0000954 24 camptodactyly[malacards.org]

    Missing: Overfolded Superior Helix
  • Antenatal-Onset Multicore Myopathy with Arthrogryposis

    Two brothers also had a bell-shaped thorax, clinodactyly, bilateral cryptorchidism, and a single palmar crease.[bio2rdf.org] Other features include a long narrow face and scoliosis.[emedicine.medscape.com] The 2 brothers (Patients 33 and 34)also had a bell-shaped thorax, clinodactyly, bilateralcryptorchidism, and a single palmar crease.[docslide.net] Skeletal features include pectus carinatum, knee and hip contractures, elongated birth length, narrow face, and macrocephaly.[slideshare.net]

    Missing: Overfolded Superior Helix
  • 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[ncbi.nlm.nih.gov] transverse palmar creases Hypoplasia of penis Dolichocephaly Micropenis Inguinal hernia Gait disturbance Abnormality of the nose Cognitive impairment Muscular hypotonia Loss[mendelian.co] […] genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped[orpha.net] […] short phalanx of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0009803 23 abnormality of the clavicle 32 HP:0000889 24 cerebellar vermis hypoplasia 32 HP:0001320 25 bell-shaped[malacards.org]

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

    […] thorax, rhizomelia, brachydactyly, ectodermal features, facial anomalies, end-stage renal disease, growth retardation Short rib – polydactyly, thorax narrowing, rhizomelia[arupconsult.com] Scaphocephaly is the most common of the craniosynostosis conditions and is characterized by a long, narrow head.[ab-y-ss.com] (a) Anteroposterior (AP)radiograph showing narrow thorax and short ribs, normal mineralizationand trident pelvis.[docslide.com.br] – rhizomelia, frontal bossing, hypotonia, short ribs Hypochondroplasia – rhizomelia, joint laxity, macrocephaly, short broad bones Thanatophoric dysplasia – micromelia, narrow[arupconsult.com]

    Missing: Single Transverse Palmar Crease
  • SHORT Syndrome

    Typical radiographic findings include a narrow, bell-shaped thorax with short, horizontally oriented ribs and irregular costochondral junctions, elevated clavicles, short[bjmp.org] transverse palmar creases ( 60% of patients) Joint hyperextensibility or hyperflexibility Neuromuscular hypotonia Diastasis recti Dry skin Premature aging Congenital heart[emedicine.medscape.com] We report four patients from two unrelated families with strikingly similar facial appearance, short stature, narrow body build and, in two of the patients, abnormalities[ncbi.nlm.nih.gov] We may recommend surgery for your child in certain cases to lengthen their bowel or make it narrower.[seattlechildrens.org]

    Missing: Overfolded Superior Helix

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