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

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

  • 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] Poikiloderma with Neutropenia Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes Rapp-Hodgkin Syndrome Rosselli-Gulienetti Syndrome Rothmund-Thomson Syndrome[nfed.org]

  • 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] PS101800 Adams-Oliver syndrome PS100300 Advanced sleep phase syndrome PS604348 Agammaglobulinemia PS601495 Aicardi-Goutieres syndrome PS225750 Alagille syndrome PS118450 Alopecia[omim.org]

  • 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] Physical examination revealed a 3x3 cm clover leaf-shaped sharply demarcated skin defect surrounded by a patch of alopecia in the scalp over the vertex in the midline (Figure[annsaudimed.net]

  • 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] Alice in Wonderland Syndrome Alien Hand Syndrome ALKURAYA-KUCINSKAS SYNDROME Allan-Herndon-Dudley syndrome Allanson Pantzar McLeod Syndrome Aloi Tomasini Isaia Syndrome Alopecia[rgd.mcw.edu]

  • 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] […] dysostosis syndrome Skin fragility-woolly hair-palmoplantar keratoderma syndrome Osteopathia striata cranial sclerosis Brachycephalofrontonasal dysplasia Thumb deformity, alopecia[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]

  • Glutamate 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] Skin alterations: hypopigmentation/hyperpigmentation of skin, outgrowth, photosensitization, abnormal hair color or structure, alopecia, alterations of nail, etc.[santa.lt]

  • 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] […] due to adenosine kinase deficiency Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase Hyperphosphatasia with mental retardation syndrome Hypogonadism, alopecia[qlinics.com] […] immunodeficiency. deaminase deficiency 102700 ADA Severe generalized recessive dystrophic epidermolysis bullosa 226600 COL7A1 Severe T-cell immunodeficiency – congenital alopecia[genlab.gr]

  • Partial Trisomy 21 in Down Syndrome

    -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] , seizures, sleep apnea, sensory deficiencies, leukemia, auto-immune and endocrine pathologies (hypothyroidism, celiac disease (see this term), diabetes mellitus type 1, alopecia[orpha.net]

  • Ichthyosis - Oral and Digital Anomalies Syndrome

    2nd, 3rd and 4th fingers.The feet revealed syndyctaly of the 2nd to 5th toes and clinodactyly of the great toes.[sajr.org.za] Severe mental retardation, cataracts, short stature, and primary hypogonadism in two brothers . Am J Med Genet 1978; 1 :291–9. 105. Sanchez JM , Barriero C , Freilij H .[nature.com] […] syndrome Ichthyosis hystrix gravior Ichthyosis hystrix of Curth-Macklin Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome Ichthyosis-hypotrichosis syndrome[se-atlas.de]

  • 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] […] of Long nose (or similar symptoms) may include: 4 Acromegaloid facial appearance syndrome (Long nose) Alagille syndrome type 1 (Long nose) Alagille syndrome (Long nose) Alopecia-contractures-dwarfism-intellectual[familydiagnosis.com]

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