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

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

  • Hereditary Hyperekplexia

    […] 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] Syndactyly type 9 Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd[amp.pharm.mssm.edu]

  • Kleiner Holmes Syndrome

    […] 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] Craniosynostosis of coronal, lambdoid, and/or metopic sutures; Acrocephaly; Parietal foramina; Small ilia; Large ischia; Radioulnar synostosis; Mild syndactyly (often 2nd-3rd[panelapp.genomicsengland.co.uk]

  • Oculodentodigital Dysplasia

    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] Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures[mendelian.co]

  • Ring Chromosome 7

    […] 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] Ring 13 syndrome, a congenital abnormality as-sociated with a ring chromosome 13, is character-ized by severe mental retardation, visceral anom-alies, and external deformities[webview.isho.jp]

  • Craniodiaphyseal Dysplasia

    […] 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] retardation syndrome, Belgian type Maturity-onset diabetes of the young Lelis syndrome Intellectual disability-severe speech delay-mild dysmorphism syndrome Glycogen storage[checkrare.com] Hyperparathyroidism, neonatal severe Mental retardation, autosomal dominant 28 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis X-Linked mental retardation 90 Mental[amp.pharm.mssm.edu]

  • Schneckenbecken Dysplasia

    […] 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] Hyperparathyroidism, neonatal severe Mental retardation, autosomal dominant 28 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis X-Linked mental retardation 90 Mental[amp.pharm.mssm.edu] Syndactyly type 9 Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd[amp.pharm.mssm.edu]

  • Formiminotransferase Deficiency

    […] 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] 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]

  • Partial Trisomy 21

    -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] The patient's severe mental retardation is probably due to the small telomeric 7p trisomy, having the breakpoint between markers D7S507 and D7S488.[ncbi.nlm.nih.gov] 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]

  • Autosomal Dominant Mental Retardation Type 5

    - 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] A condition (OMIM:614607) characterised by severe mental retardation and congenital defects, such as abnormal corpus callosum, absent or hypoplastic fifth finger- or toenails[medical-dictionary.thefreedictionary.com]

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

    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] Hennekam and Beemer wrote about a girl suffering from "skin mastocytosis, hearing loss, microcephaly, mild dysmorphic features, and severe mental retardation".[symptoma.com]

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