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3,293 Possible Causes for Microcephaly, Preaxial Polysyndactyly, Wide Space Between the First and Second Toe

  • Kleiner Holmes Syndrome

    Fusion Anomalies Microcephaly Deafness Syndrome Microcephaly Microphthalmos Blindness Microcephaly Nonsyndromal Microcephaly Pontocerebellar Hypoplasia Dyskinesia Microcephaly[rgd.mcw.edu] His younger brother had preaxial polysyndactyly of the great toes.[omim.org] […] gap between first and second toes Wide space between 1st, 2nd toes Wide space between first and second toes Widely spaced 1st-2nd toes Widely spaced first and second toes[rarediseases.info.nih.gov]

  • Down Syndrome

    RESULTS: Microarray detected an intragenic microdeletion of DYRK1A in an individual with microcephaly and autism.[ncbi.nlm.nih.gov] A wide space, often with a deep fissure between the first and second toes, is also common.[dx.doi.org] spacing, often with a deep plantar groove between the first and second toes.[dx.doi.org]

    Missing: Preaxial Polysyndactyly
  • Dubowitz Syndrome

    A small head, often with a receding forehead, large ears and nose is often an associated feature of other disorders, rarely occurring in isolation.[web.archive.org] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] MICROCEPHALY Infants born with Dubowitz syndrome have primary microcephaly, or a small head size at birth.[encyclopedia.com]

    Missing: Preaxial Polysyndactyly
  • Ring Chromosome 10

    Their common features were mental and growth retardation, low birth weight, microcephaly, stubby nose, hypertelorism, strabismus, wide set nipples, single transverse palmar[ncbi.nlm.nih.gov] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] We report here on a child with a ring chromosome 10, which is associated with prenatal and postnatal growth retardation, microcephaly, dysmorphic features, hypotonia, heart[epublications.vu.lt]

    Missing: Preaxial Polysyndactyly
  • Atelosteogenesis Type 2

    This includes the following conditions: Pseudoachondroplasia MED (types 1, 2, 3, 5, 6 and other types) Stickler syndrome (recessive type) Familial hip dysplasia MED with microcephaly[emedicine.medscape.com] Feet with preaxial polysyndactyly and clubfoot. Sprengel anomaly. Cardiac and genitourinary anomalies.[musculoskeletalkey.com] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov]

  • Familial Congenital Nasolacrimal Duct Obstruction

    […] syndrome Microcephaly-capillary malformation syndrome Microcephaly-cardiac defect-lung malsegmentation syndrome Microcephaly-cardiomyopathy syndrome Microcephaly-cerebellar[orpha.net] polysyndactyly of the feet, soft tissue syndactyly of the hands, and brachydactyly and duplication of the second toe may be seen in many of these patients.[entokey.com] space between first and second toes (sandal toes) clinodactyly of the fifth finger All of these are found in individuals without DS.[medicalhomeportal.org]

  • Seckel Syndrome

    Primary microcephaly represents an example of clinically and genetically heterogeneous condition.[ncbi.nlm.nih.gov] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] When prenatal ultrasound shows severe microcephaly and intrauterine growth restriction, this rare syndrome should be included in the differential diagnosis.[ncbi.nlm.nih.gov]

    Missing: Preaxial Polysyndactyly
  • X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome

    Other symptoms may include muscle stiffness (spasticity), exaggerated reflexes, and an abnormally small head ( microcephaly ).[ghr.nlm.nih.gov] polysyndactyly syndrome Hamel cerebro-palato-cardiac syndrome Hand-foot-genital syndrome Harrod syndrome Heart-hand syndrome Heart-hand syndrome type 2 Heart-hand syndrome[se-atlas.de] Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ] 0000252 Micrognathia Little[rarediseases.info.nih.gov]

    Missing: Wide Space Between the First and Second Toe
  • Waters-West Syndrome

    Diseases related with Microcephaly and Splenomegaly In the following list you will find some of the most common rare diseases related to Microcephaly and Splenomegaly that[mendelian.co] Polysyndactyly Syndrome Hemolytic Anemia, Lethal Congenital Nonspherocytic, With Genital Andother Abnormalities Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia[familydiagnosis.com] Very frequent (99-80%) HP:0000069 7 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252 8 splenomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0001744 9 microcephaly[malacards.org]

    Missing: Wide Space Between the First and Second Toe
  • Rubinstein-Taybi Syndrome

    Rubinstein-Taybi syndrome (RTS; OMIM 180849) is a well-defined mental retardation/multiple congenital anomalies (MR/MCA) syndrome characterized by postnatal growth retardation, microcephaly[ncbi.nlm.nih.gov] The mild end of the GCPS spectrum is a continuum with preaxial polysyndactyly type 4 and crossed polydactyly (preaxial polydactyly of the feet and postaxial polydactyly of[ncbi.nlm.nih.gov] RSTS is characterized by typical facial features, microcephaly, broad thumbs and first toes, intellectual disability, and postnatal growth retardation.[ncbi.nlm.nih.gov]

    Missing: Wide Space Between the First and Second Toe

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