Create issue ticket

27 Possible Causes for Congenital Eye Anomaly, Lordosis, Prominent High Nasal Root

  • Hallermann-Streiff Syndrome

    Skeletal abnormalities have also been reported in some cases, such as widely flared shoulder blades (winged scapula), abnormal curvature of the spine (lordosis or scoliosis[rarediseases.org] nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Pulmonary[rarediseases.info.nih.gov] Hallermann-Streiff syndrome is a rare congenital disorder characterized as a complex association of developmental anomalies involving structures of ectodermal origin (the[ncbi.nlm.nih.gov]

  • Schwartz-Jampel Syndrome

    […] problems Continuous spontaneous activity on an electromyogram Joint contractures Pectus carinatum (pigeon chest) Abnormal curvature of the vertebrae (scoliosis, kyphosis, lordosis[forgottendiseases.org] nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Ptosis[rarediseases.info.nih.gov] He had short height and low weight for age, bowed limbs, marked lumbar lordosis and umbilical hernia.[scielo.br]

  • Chudley-Rozdilsky Syndrome

    […] a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis[orpha.net] nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Protruding[rarediseases.info.nih.gov] […] contractures Congenital craniosynostosis maternal hyperthyroiditis Congenital cystic eye Congenital cystic eye multiple ocular and intracranial anomalies Congenital cytomegalovirus[personalizedcause.com]

  • Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

    […] info about PAPILLORENAL SYNDROME; PAPRS Low match HYPOCHONDROPLASIA; HCH Hypochondroplasia is a autosomal dominant disorder characterized by short-limbed dwarfism, lumbar lordosis[mendelian.co] WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13 High match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5 Congenital[mendelian.co] […] pitched voice Dilatation Prominent nasal bridge Hydrops fetalis Reduced subcutaneous adipose tissue Entropion Progeroid facial appearance Severe intrauterine growth retardation[mendelian.co]

  • Nemaline Myopathy Type 4

    Science (NCATS), USA. ) Drooping eyelids High-arched palate Swallowing difficulties Delay in reaching developmental milestones, such as sitting, crawling, walking or running Lordosis[dovemed.com] nasal root extending to a widened, prominent nasal tip with elongated, smooth philtrum, rounding of the upper vermillion border and everted lower lips.[panelapp.genomicsengland.co.uk] (congenital with brain and eye anomalies), type A, 5, 613153 LARGE Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 ISPD[gsdseq.ir]

  • Rigid Spine Syndrome

    The type and location of spinal deformity: Thoracic kyphosis: collagen VI-deficient CMD Thoracic lordosis: laminin alpha-2 deficiency, SELENON -related CMD, and L-CMD; late[ncbi.nlm.nih.gov] Associated distinctive features are dolicocephaly, prominent nasal root, oblique palpebral fissues, high-arched palate, low-set ears, short neck, and clinodactyly.[ncbi.nlm.nih.gov] It has been emphasized that at autopsy of affected fetuses demonstrable muscle changes may not be observed, while brain and eye anomalies are clearly demonstrated197.[cyberleninka.org]

  • Malignant Hyperthermia - Arthrogryposis - Torticollis

    […] tabes dorsalis[L] *myelophthisis〈 骨髄癆〉 【脊柱管狭窄症】【脊柱管狭窄】*spinal canal stenosis/*spinal stenosis 【脊柱後側彎症】*kyphoscoliosis 【脊柱後彎症】*kyphosis 亀背 【脊柱前側彎症】*lordoscoliosis 【脊柱前彎症】*lordosis[medo.jp] […] of the zygomatic bone Prominence of cheekbone Pronounced cheekbone [ more ] 0012370 Prominent nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose[rarediseases.info.nih.gov] Multiple vertebral anomalies unusual facies[?] Mumps Munchausen by proxy syndrome[?] Muscle-eye-brain syndrome[?][encyclopedia.kids.net.au]

  • Renpenning Syndrome 1

    Additional abnormalities may include lordosis, heart defect, pectus excavatum, flat feet, shortening of the tubular bones of the hands, and joint laxity.[whonamedit.com] He shows large, low-set ears, high nasal root, micrognathia, long philtrum, and prominent metopic suture.[doi.org] (congenital with brain and eye anomalies), type A, 2 POMT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 FKRP Myotonia congenita[ceifer.com]

  • Ectrodactyly

    […] hypoplasia, auricular anomalies, hypopigmentation of the skin, an increased number of nevocellular nevi,[ 4 ] conductive hearing loss,[ 3 ] nipple abnormalities, lumbar lordosis[parjournal.net] Reported dysmorphisms include high forehead, prominent eyes, long eyelashes, hypertelorism, flat nasal root, low-set dysmorphic ears (figure 1A, B, D ).[ojrd.biomedcentral.com] Other symptoms include anomalies of eyes and urinary tract.[genome.jp]

  • Malpuech Syndrome

    Telecanthus Bifid tip of the nose Dysplastic/low set ears Down-turned corners of the mouth Cleft lip/palate Accessory nipple Cryptorchid testes Short/clinodactilous fifth finger Lordosis[documents.tips] These include: micrognathia, malar hypoplasia, a relatively high nasal root with prominent ridge, everted lower lip, and (frequently) facial asymmetry.[ncbi.nlm.nih.gov] […] with brain and eye anomalies), type A , see Walker-Warburg syndrome muscular dystrophy-dystroglycanopathy [with brain and eye anomalies], type A , see Walker-Warburg syndrome[herenciageneticayenfermedad.blogspot.com]

Similar symptoms