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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.[] 2nd, 3rd and 4th fingers.The feet revealed syndyctaly of the 2nd to 5th toes and clinodactyly of the great toes.[] Vertebral anomalies, epibulbar epidermoids, mental retardation, and numerous other anomalies are frequently associated.[]

  • 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[] […] and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly.[] mental retardation and epilepsy.[]

  • Ring Chromosome 7

    […] of distinct facial features, developmental delay, mental retardation, microcephaly, scoliosis and ocular anomalies that include abnormal retinal pigmentation, strabismus, glaucoma[] […] syndactyly Webbed 3rd-4th toes 0009779 Bifid uvula 0000193 Clinodactyly of the 5th finger Permanent curving of the pinkie finger 0004209 Holoprosencephaly 0001360 Median[] 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[]

  • Kleiner Holmes Syndrome

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

  • 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[] […] and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly.[] […] 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[]

  • 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[] There are two forms of the disorder: a severe phenotype and a mild phenotype.[] Features of a severe phenotype include megaloblastic anemia and mental retardation.[]

  • Schneckenbecken Dysplasia

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

  • 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[] - 5th fingers; Short middle phalanx of the 5th finger; Fifth finger camptodactyly; Midphalangeal hypoplasia; Clinodactyly; [Feet]; Syndactyly of 3rd - 4th toes SKIN, NAILS[] An autosomal dominant condition (OMIM:614608) characterised by multiple congenital anomalies, severe mental retardation and maladaptative behaviour appearing during the developmental[]

  • Partial Trisomy 21 in Down Syndrome

    […] omphalocele and Hirschprung disease; Genitourinary : micropenis, cryptorchidism, renal malformations and hypospadias; Eye : cataracts , astigmatism , myopia, strabismus and glaucoma[] -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[] 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,[]

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

    Cataract and glaucoma are common complications occurring at a later age in some cases.[] 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[] Title Other Names: Hennekam Beemer syndrome; Skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe mental retardation Categories: This disease is[]

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