Create issue ticket

42 Possible Causes for Cataract, Delayed Growth and Development, Prominent High Nasal Root

  • Schwartz-Jampel Syndrome

    Ocular manifestation is a part of the syndrome and include blepharospasm, cataract, subluxation of lens and myopia.[ajol.info] (bone dysplasia); permanent bending or extension of certain joints in a fixed position (joint contractures); and/or growth delays resulting in abnormally short stature (dwarfism[thepetitionsite.com] 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]

  • Chudley-Rozdilsky Syndrome

    Microcornea Syndrome Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome Cataracts, Ataxia, Short Stature, and Mental Retardation Catel Manzke Syndrome Cauda equina[rgd.mcw.edu] It is characterized by delay in GROWTH, germ cell maturation, and development of secondary sex characteristics.[ctdbase.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 Protruding[rarediseases.info.nih.gov]

  • Congenital Cataract

    Note that cataract may affect one or both eyes.[symptoma.com] Developmental abnormalities include congenital cataracts and microcorneae, primary hypomyelination of the peripheral nervous system, impaired physical growth, delayed early[ojrd.biomedcentral.com] We present a Hungarian girl with microcephaly, microphthalmia, congenital cataract, prominent nasal root, peaked nose, micrognathia with high arched palate, mild mental retardation[ncbi.nlm.nih.gov]

  • 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] Bone development is also delayed by 2 years.[novonordisk-us.com] 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] Between 30% and 50% cases Accelerate your rare disease diagnosis with us Learn more Other less frequent symptoms Patients with Seizures and Abdominal distention. may also develop[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] This phase is marked mainly by mental subnormality, delayed growth and motor development, speech defect, lack of emotional control, voracious appetite leading to obesity,[icd10data.com] Additional findings included narrow, high arched palate, prominent nasal root, long philtrum, distended abdomen, and drooling from open mouth.[ncbi.nlm.nih.gov]

  • 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] The major features of this disorder include a characteristic facial appearance known as the "Greek helmet," delayed growth and development; prenatally and postnatally, intellectual[ncbi.nlm.nih.gov] Salient Features 3-7 Craniofacial : "Greek warrior helmet" appearance - broad nasal root continuing into the forehead.[genetics4medics.com]

  • Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

    Mental Retardation Sensenbrenner syndrome Shprintzen Golberg Craniosynostosis Skeletal Dysplasia, San Diego Type Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts[rgd.mcw.edu] Common features include a cleft in the lip or palate, abnormal facial features, limb or skeletal abnormalities, intellectual disability and delayed growth and development.[centogene.com] […] pitched voice Dilatation Prominent nasal bridge Hydrops fetalis Reduced subcutaneous adipose tissue Entropion Progeroid facial appearance Severe intrauterine growth retardation[mendelian.co]

  • Renpenning Syndrome 1

    Abnormality of the hair ; Abnormality of the rib cage ; Anal atresia ; Ankylosis ; Anxiety ; Atrial septal defect ; Blindness ; Brachycephaly ; Bulbous nose ; Camptodactyly ; Cataract[mousephenotype.org] This phase is marked mainly by mental subnormality, delayed growth and motor development, speech defect, lack of emotional control, voracious appetite leading to obesity,[icd10data.com] He shows large, low-set ears, high nasal root, micrognathia, long philtrum, and prominent metopic suture.[doi.org]

  • Microcephalic Osteodysplastic Primordial Dwarfism Type II

    ; 612018; SLC16A12 Cataract, juvenile-onset; 604219; BFSP2 Cataract, lamellar 2; 610425; CRYBA4 Cataract, lamellar; 116800; HSF4 Cataract, Marner type; 116800; HSF4 Cataract[howlingpixel.com] development Intrauterine growth retardation Neurologic Abnormality Developmental delay (mild-severe) Infarcts Moyamoya disease Multiple aneurysms Performance High-pitched[datagenno.com] nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Proximal[rarediseases.info.nih.gov]

Similar symptoms