Create issue ticket

25 Possible Causes for Cataract, Failure to Thrive in Infancy, Prominent High Nasal Root

  • Noonan Syndrome

    He underwent an eye examination after complaining of decreased visual acuity in the right eye and was diagnosed with mature cataract, which was treated by cataract surgery[ncbi.nlm.nih.gov] […] to thrive in infancy Faltering weight in infancy Weight faltering in infancy [ more ] 0001531 High, narrow palate Narrow, high-arched roof of mouth Narrow, highly arched[rarediseases.info.nih.gov] The triangular facial features become even sharper in teenagers and young adults, with a pinched root and a thin, high bridge on the nose.[touchendocrinology.com]

  • Qazi-Markouizos Syndrome

    Microcornea Syndrome Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome Cataracts, Ataxia, Short Stature, and Mental Retardation Catel Manzke Syndrome Cauda equina[rgd.mcw.edu] , including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis[mendelian.co] nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Seizures[rarediseases.info.nih.gov]

  • Psychomotor Retardation

    Abstract We report four children (three sibs and one sporadic case) with congenital sutural cataract (opacity of the sutures of the crystalline lens), retinitis pigmentosa[ncbi.nlm.nih.gov] CASE REPORT: We present an 18-month-old boy who presented with psychomotor retardation and failure to thrive.[ncbi.nlm.nih.gov] Additional findings included narrow, high arched palate, prominent nasal root, long philtrum, distended abdomen, and drooling from open mouth.[ncbi.nlm.nih.gov]

  • Renpenning Syndrome

    Abnormality of the hair ; Abnormality of the rib cage ; Anal atresia ; Ankylosis ; Anxiety ; Atrial septal defect ; Blindness ; Brachycephaly ; Bulbous nose ; Camptodactyly ; Cataract[mousephenotype.org] […] to thrive in infancy Chorioretinal coloboma Nasal speech Narrow face Protruding ear Joint contracture of the hand Abnormality of the hair Renal hypoplasia High, narrow palate[mendelian.co] He shows large, low-set ears, high nasal root, micrognathia, long philtrum, and prominent metopic suture.[doi.org]

  • Baller-Gerold Syndrome

    Complications include a high risk of skin cancer, with about half having skin cancer by age 10 without preventive efforts, and cataracts.[howlingpixel.com] […] to thrive in infancy Faltering weight in infancy Weight faltering in infancy [ more ] 0001531 Frontal bossing 0002007 Hand oligodactyly Hand has less than 5 fingers 0001180[rarediseases.info.nih.gov] If the onset or distribution of poikiloderma is atypical, then two additional features such as bone abnormalities, cataracts, or osteosarcoma are required for a diagnosis[ncbi.nlm.nih.gov]

  • Mirhosseini-Holmes-Walton Syndrome

    Syndrome of pigmentary retinal degeneration, cataract, microcephaly, and severe mental retardation.[doi.org] Symptoms INHERITANCE: Autosomal dominant GROWTH: [Height]; Short stature; [Weight]; Excessive weight gain after neonatal period; Obesity; [Other]; Failure to thrive in infancy[findzebra.com] Mirhosseini-Holmes-Walton syndrome is a syndrome which involves retinal degeneration , cataract , microcephaly , and mental retardation .[ro.wikidoc.org]

  • X-Linked Mandibulofacial Dysostosis

    Retardation-Spasticity-Distal Transverse Limb Defects Syndrome Mental Retardation-Typical Facies-Aortic Stenosis Syndrome Mercaptolactate-Cysteine Disulfiduria (Mcdu) Mesiodens-Cataract[neo-genetics.com] However, he was hospitalized immediately after birth for failure to thrive. Rest of the neonatal course and infancy were unremarkable.[jofs.in] 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]

  • Rigid Spine Syndrome

    The disease has three major subtypes: Mild DM1, characterized by cataract and mild myotonia and normal life span Classic DM1, characterized by myotonia, cataracts, muscle[centogene.com] Failure to thrive and pronounced weakness of the axial and proximal muscles are common. External ophthalmoplegia predominantly affects upward and lateral gaze.[ncbi.nlm.nih.gov] Microphthalmia, retinal detachment, retinal hypoplasia, anterior chamber malformation, cataracts SELENON ( SEPN1 )-related CMD.[ncbi.nlm.nih.gov]

  • Cataract - Ataxia - Short Stature - Mental Retardation (CASM)

    Treatment Treatment Options: Cataract surgery may be indicated in young females and may be beneficial in infant boys.[disorders.eyes.arizona.edu] PMID 16783566: failure to thrive, life-threatening malformations, and/or critical infections, and all died in infancy (5 weeks, 7 months, and 9 months, respectivelyFrom Genetics[panelapp.genomicsengland.co.uk] They can expect that half their sons will have cataracts and neurological disease while half their daughters will have only cataracts.[disorders.eyes.arizona.edu]

  • Wolf-Hirschhorn Syndrome

    […] palpebral fissures Epicanthal folds Strabismus Coloboma Proptosis due to hypoplasia of orbital ridges Ectopic pupils Exotropia Ptosis Microphthalmia Megalocornea Sclerocornea Cataracts[emedicine.medscape.com] Feeding difficulties often lead to failure to thrive in infancy. Hypotonia and hyperextensible joints can result in delayed attainment of motor milestones.[ncbi.nlm.nih.gov] Salient Features 3-7 Craniofacial : "Greek warrior helmet" appearance - broad nasal root continuing into the forehead.[genetics4medics.com]

Similar symptoms