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17 Possible Causes for Overfolded Superior Helix, Short Stature

  • Camptodactyly Syndrome Guadalajara Type 1

    Short stature and microcephaly, known to be common to both the variants, were also noted.[ped-rheum.biomedcentral.com] […] nose Decreased length of nose Shortened nose [ more ] 0003196 Short stature Decreased body height Small stature [ more ] 0004322 Short toe Short toes Stubby toes [ more ][rarediseases.info.nih.gov] dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility[mendelian.co]

  • Coffin-Lowry Syndrome

    Coffin-Lowry Syndrome is characterized by mental retardation, skeletal abnormalities, delayed bone development, short stature, tapered fingers, large ears, orbital hypertelorism[ncbi.nlm.nih.gov] superior helix [ Graham et al 1998 ].[ncbi.nlm.nih.gov] Coffin-Lowry syndrome is a rare X-linked disorder characterized by craniofacial and skeletal abnormalities, mental retardation, short stature, and hypotonia.[ncbi.nlm.nih.gov]

  • Baller-Gerold Syndrome

    In the second family, the affected male had craniosynostosis, radial ray defect, poikiloderma, and short stature. He had a homozygous splice site mutation (IVS17-2A C).[ncbi.nlm.nih.gov] superior helix and small anthelix, sometimes cupped, with preauricular tags (fig 1 ).[jmg.bmj.com] A short-stature panel genetic test was conducted in accordance with the phenotype of the fetus.[ncbi.nlm.nih.gov]

  • Propionic Acidemia

    stature Rigid muscle tone (spasticity) Abnormal involuntary movements (dystonia) Loss of vision Death associated with propionic acidemia is mainly due to brain damage.[healthhype.com] 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] Percentages of under-nutrition/wasting (weight normal for age) and short stature/stunting (height normal for age) of the PA patients were calculated.[scielo.br]

  • FGFR2-Related Bent Bone Dysplasia

    II; hypochondrogenesis; Czech dysplasia; Kniest dysplasia; Stickler syndrome; otospondylomegaepiphyseal dysplasia; platyspondylic skeletal dysplasia; spondyloepiphyseal dysplasia[arupconsult.com] He is radiology committee member of the UK Skeletal Dysplasia Group for teaching and research, and an active member of the International Skeletal Dysplasia Society.[gosh.nhs.uk] Dysplasia Hydrops-Ectopic Calcification-Moth-Eaten Skeletal Dysplasia Moth-Eaten Skeletal Dysplasia GRBGD 215140 Genetic Test Registry Greig Cephalopolysyndactyly Syndrome[ukgtn.nhs.uk]

  • Pallister W Syndrome

    Case presentation The proband is a 14 month-old girl with short stature and mental retardation. This was the first child from healthy unrelated parents.[molecularcytogenetics.biomedcentral.com] superior helix and small anthelix, sometimes cupped, with preauricular tags (fig 1 ).[jmg.bmj.com] Mental retardation, short stature, minor skeletal anomalies, craniofacial dysmorphism and macrodontia in two sisters and their mother.[reseau-maladies-rares.fr]

  • Kaufman Oculocerebrofacial Syndrome

    Sibylla Achermann, Remo Largo, Dieter Kotzot, Mariluce Riegel and Albert Schinzel, Short stature, myopia, severe developmental delay, and peculiar facial appearance in two[doi.org] Symptoms INHERITANCE: Autosomal dominant HEAD AND NECK: [Head]; Open metopic suture; [Face]; Midface hypoplasia; Micrognathia; [Ears]; Low-set ears; Overfolded superior helix[findzebra.com] Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender[rarediseases.oscar.ncsu.edu]

  • Kleiner Holmes Syndrome

    […] and Facial Dysmorphism Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations Mental Retardation, Skeletal Dysplasia, and Abducens Palsy Mental Retardation[rgd.mcw.edu] superior helix; Deficient auricle; Hypertelorism; Megalophthalmos; Gingival hyperplasia; Prenatal teeth; Bell-shaped thorax; Hypoplastic clavicles; Decreased mineralization[panelapp.genomicsengland.co.uk] stature Milia Short distal phalanx of the 2nd finger Poor motor coordination Scoliosis Short proximal phalanx of finger Short neck Kyphosis Severe short stature Short proximal[mendelian.co]

  • Branchio-Oculo-Facial Syndrome

    […] columella / depressed nasal tip - Short stature / dwarfism / nanism - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Upslanted palpebral[csbg.cnb.csic.es] […] 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] Our long-term observations include hypernasal speech with mild conductive hear- ing loss, postnatal growth retardation with mild short stature, and normal intelligence.[documents.tips]

  • Auriculocondylar Syndrome

    Multiple malformation syndrome, small stature, without skeletal dysplasia Nager syndrome Oculocerebrofacial syndrome Kaufman type Oculodento-osseous dysplasia Oculo-palato-digital[icdlist.com] 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]

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