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617 Possible Causes for Retrognathia, Scoliosis, Short Neck

  • Turner Syndrome

    [ more ] 0000347 Neck pterygia 0009759 Obesity Having too much body fat 0001513 Primary amenorrhea 0000786 Recurrent otitis media Recurrent middle ear infection 0000403 Retrognathia[rarediseases.info.nih.gov] A 16-year-old girl was referred to our hospital with chief complaint of short stature. She presented with round chubby facies, short neck, obesity and short stature.[ncbi.nlm.nih.gov] Scoliosis The incidence of scoliosis in TS patients was 0.69%, compared with 0.39% among non-TS patients.[doi.org]

  • Klippel-Feil Syndrome

    The patient had an extremely small mandible, significant retrognathia, and severe limitation of cervical mobility due to cervical vertebral fusion.[ncbi.nlm.nih.gov] The short neck and its immobility and instability present a significant challenge for endotracheal intubation.[ncbi.nlm.nih.gov] "Scoliosis" is potentially the most common manifestation associated with KFS.[ncbi.nlm.nih.gov]

  • Goldberg-Shprintzen Syndrome

    […] prominent forehead Ocular proptosis Widely spaced eyes Downslanted palpebral fissures Malar flattening High narrow palate with prominent palatine ridges Micrognathia and/or retrognathia[ncbi.nlm.nih.gov] Additional dysmorphic features may include maxillary hypoplasia, hypodontia, high arched palate, short neck, small hands, brachydactyly, fifth finger clinodactyly, fetal finger[orpha.net] […] with the syndrome exhibit ocular (ptosis, hyperopia, or megalocornea), cardiac, urogenital (vesicoureteral reflux, multicystic renal dysplasia), and skeletal (oligodontia, scoliosis[en.wikipedia.org]

  • Spondylocarpotarsal Synostosis

    The craniofacial features were, prominent eyes, hypertelorism, facial asymmetry, retrognathia, coarse and thick scalp hair, ptyrigium colli, (more marked on the right side[scoliosisjournal.biomedcentral.com] neck ; Short nose ; Talipes equinovarus ; Tarsal synostosis Associated Genes FLNB (Withdrawn symbols: ABP-278, FH1, FLN1L, LRS1, TABP, TAP ) Mouse Orthologs Flnb (Withdrawn[mousephenotype.org] Congenital Scoliosis.[dovemed.com]

  • Freeman-Sheldon Syndrome

    Patient had retrognathia with pouting of lips [Figure 1], microstomia, ulnar deviation of fingers, bilateral congenital talipes equinovarus and knee dislocation.[ijaweb.org] She also has short neck (Figure 1). There is contracture of both knees. Flexion contractures of both hands and toes of the right foot are found (Figure 2).[elynsgroup.com] This child had undergone multiple surgical procedures for cleft palate, clubfeet, contractures of the hip and knee and scoliosis.[ncbi.nlm.nih.gov]

  • Spondylometaphyseal Dysplasia

    Soon after birth he had lowhairline, mild hypertelorism, short neck, frontal bossing, retrognathia, broad hands, and short limbs.[cags.org.ae] Affiliated tissues include bone, and related phenotypes are low-set ears and short neck[malacards.org] Spondylometaphyseal dysplasia is an extremely rare genetic disorder of the bones, primarily involving the axial skeleton, with short stature, abnormally shaped vertebrae, and scoliosis[symptoma.com]

  • Schinzel-Giedion Syndrome

    […] toes [ more ] 0001845 Pulmonary hypoplasia Small lung Underdeveloped lung [ more ] 0002089 Respiratory distress Breathing difficulties Difficulty breathing [ more ] 0002098 Retrognathia[rarediseases.info.nih.gov] , and a short neck.[ncbi.nlm.nih.gov] We present the first case of SGS developing scoliosis.[springermedizin.de]

  • Cleidocranial Dysplasia

    Parietal bossing 0000242 Persistent open anterior fontanelle 0004474 Short femoral neck Short neck of thighbone 0100864 Short middle phalanx of the 2nd finger Short middle[rarediseases.info.nih.gov] […] therapy, or progressive scoliosis after skeletal maturation.[web.archive.org] […] is common Broad femoral head and short femoral neck Radius short or, rarely, absent Elongated second metacarpals Pseudoepiphyses of metacarpal bases Short hypoplastic distal[learningradiology.com]

  • Noonan Syndrome

    Apparent ocular hypertelorism and antimongoloid slant of the palpebral fissures, a deep philtrum, and mild retrognathia may also be present.[touchendocrinology.com] Noonan syndrome is an autosomal, dominantly inherited disease; it is physically characterized by short stature, short neck, webbed neck, abnormal auricles, high arched palate[ncbi.nlm.nih.gov] Scoliosis and kyphosis occur in about 15% of patients, mainly associated with SOS1 mutations, as it was in our case with severe double curved scoliosis.[bone-abstracts.org]

  • Robinow-Like Syndrome

    […] ears Low set ears Lowset ears [ more ] 0000369 Nail dysplasia Atypical nail growth 0002164 Narrow palate Narrow roof of mouth 0000189 Oral cleft Cleft of the mouth 0000202 Retrognathia[rarediseases.info.nih.gov] […] upper portion of limb 0008905 Short neck Decreased length of neck 0000470 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Short stature Decreased body[rarediseases.info.nih.gov] […] more ] 0000520 Radial deviation of finger 0009466 Renal duplication Extra kidney 0000075 Rib fusion Fused ribs 0000902 Right ventricular outlet tract obstruction 0001705 Scoliosis[rarediseases.info.nih.gov]

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