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13 Possible Causes for 3rd-4th Toe Clinodactyly, Glaucoma, Mild to Severe Mental Retardation

Did you mean: 3rd-4th Toe Clinodactyly, Glaucoma, Mild to, Severe Mental Retardation

  • Oculodentodigital Dysplasia

    A 14-year-old girl with typical oculodentodigital syndrome had been treated for chronic glaucoma for seven years.[ncbi.nlm.nih.gov] 2nd, 3rd and 4th fingers.The feet revealed syndyctaly of the 2nd to 5th toes and clinodactyly of the great toes.[sajr.org.za] Vertebral anomalies, epibulbar epidermoids, mental retardation, and numerous other anomalies are frequently associated.[icd10data.com]

  • Hereditary Hyperekplexia

    […] to be caused by genetic variants: Aniridia Axenfeld-Rieger Bardet-Biedl Syndrome CHARGE Syndrome Choroideremia Congenital Cataracts Duane-Radial Ray Syndrome Early-Onset Glaucoma[genomicinterpretation.org] […] and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly.[amp.pharm.mssm.edu] mental retardation and epilepsy.[ncbi.nlm.nih.gov]

  • Ring Chromosome 7

    […] of distinct facial features, developmental delay, mental retardation, microcephaly, scoliosis and ocular anomalies that include abnormal retinal pigmentation, strabismus, glaucoma[tp.amegroups.com] […] syndactyly Webbed 3rd-4th toes 0009779 Bifid uvula 0000193 Clinodactyly of the 5th finger Permanent curving of the pinkie finger 0004209 Holoprosencephaly 0001360 Median[rarediseases.info.nih.gov] We report on a boy with ring chromosome 7 who had severe mental retardation, growth failure, microcephaly, cleft lip and palate, café-au-lait spots, nevus flammeus, and genital[ncbi.nlm.nih.gov]

  • Kleiner Holmes Syndrome

    Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy Spastic Paresis, Glaucoma[rgd.mcw.edu] […] fingers); Bifid terminal phalanges digits 2 and 3; Absent first metatarsal; Brachydactyly; Fifth finger clinodactyly; Syndactyly (often 3rd-4th toes); Hallux valgus; Increased[panelapp.genomicsengland.co.uk] Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration Sezary's disease Shaheen Syndrome Shaken Baby Syndrome Shapiro Syndrome Sharma Kapoor Ramji[rgd.mcw.edu]

  • Craniodiaphyseal Dysplasia

    […] white forelock Orofaciodigital syndrome 8 Fallot complex with severe mental and growth retardation Joubert syndrome Dentin dysplasia sclerotic bones Iris hypoplasia and glaucoma[checkrare.com] […] and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly.[amp.pharm.mssm.edu] […] present as ' juvenile otosclerosis ' HA (10.4%) Exophthalmos (8.2%) Frontal bossing (7.2%) Visual changes reported Involvement of the orbit Proptosis Papilledema Epiphora Glaucoma[orthopaedicsone.com]

  • Glutamate Formiminotransferase Deficiency

    Amelogenesis imperfecta, hypocalcification type Glaucoma 1, open angle, O Usher syndrome, type 1F Hypogonadotropic hypogonadism 12 with or without anosmia Glaucoma 1, open[amp.pharm.mssm.edu] There are two forms of the disorder: a severe phenotype and a mild phenotype.[egl-eurofins.com] Features of a severe phenotype include megaloblastic anemia and mental retardation.[genome.jp]

  • Schneckenbecken Dysplasia

    , Glaucoma, primary congenital AR 21 27 NPR2 Acromesomelic dysplasia type Maroteaux, Epiphyseal chondrodysplasia, Miura, Short stature with nonspecific skeletal abnormalities[blueprintgenetics.com] […] and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly.[amp.pharm.mssm.edu] […] with Myoclonic Epilepsy OMIM:182815 Spastic Paraplegia with Neuropathy and Poikiloderma OMIM:182820 Spastic Paraplegia with Precocious Puberty OMIM:270850 Spastic Paresis, Glaucoma[informatics.jax.org]

  • Autosomal Dominant Mental Retardation Type 5

    Intraocular pressure and Glaucoma All patients with aniridia should undergo annual glaucoma screening throughout life with measurement of intraocular pressure, examination[eyewiki.aao.org] - 5th fingers; Short middle phalanx of the 5th finger; Fifth finger camptodactyly; Midphalangeal hypoplasia; Clinodactyly; [Feet]; Syndactyly of 3rd - 4th toes SKIN, NAILS[findzebra.com] An autosomal dominant condition (OMIM:614608) characterised by multiple congenital anomalies, severe mental retardation and maladaptative behaviour appearing during the developmental[medical-dictionary.thefreedictionary.com]

  • Partial Trisomy 21 in Down Syndrome

    […] omphalocele and Hirschprung disease; Genitourinary : micropenis, cryptorchidism, renal malformations and hypospadias; Eye : cataracts , astigmatism , myopia, strabismus and glaucoma[doctortipster.com] -5th decade of life Short stature (average at 3rd percentile) Obesity Wide gap between first and second toes Hypotonia Clinodactyly of the 5th fingers Natural History/Prognosis[en.wikibooks.org] Since some features overlap between the two syndromes, including severe mental retardation, it is unclear to what extent monosmy for 13q33-qter, trisomy for 21q22.1-qter,[ncbi.nlm.nih.gov]

  • Cutaneous Mastocytosis - Short Stature - Conductive Hearing Loss - Microtia

    Cataract and glaucoma are common complications occurring at a later age in some cases.[fetalultrasound.com] 3rd and 4th & 5th toe short palpebral fissures esophageal and/or duodenal atresia External links GeneReview/NIH/UW entry on Feingold syndrome Feingold syndrome (FS), also[findzebra.com] Title Other Names: Hennekam Beemer syndrome; Skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe mental retardation Categories: This disease is[rarediseases.info.nih.gov]

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