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2,210 Possible Causes for Hypertelorism, Preaxial Polysyndactyly, Wide Space Between the First and Second Toe

  • Kleiner Holmes Syndrome

    Low frontal hairline; Maxillary hypoplasia; Facial asymmetry; Long and prominent ear crus; Small ears; Low-set ears; Apical cartilage deformity; Deafness; Shallow orbits; Hypertelorism[panelapp.genomicsengland.co.uk] 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]

  • Atelosteogenesis Type 2

    Craniofacial dysmorphism describes a prominent forehead, hypertelorism, a depressed nasal bridge with a grooved tip, micrognathia and frequently a cleft palate.[malacards.org] 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]

  • Down Syndrome

    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] […] fissures, Brushfield spots, small mouth, small ears, excessive skin at the nape of the neck, single transverse palmar crease, and short fifth finger with clinodactyly and wide[dx.doi.org]

    Missing: Preaxial Polysyndactyly
  • Acrocallosal Syndrome

    […] moderate to severe mental retardation, hypotonia, agenesis of the corpus callosum and preaxial polydactyly involving both feet and the facial features like broad forehead and hypertelorism[ncbi.nlm.nih.gov] The patient underwent surgery for preaxial polysyndactyly of both hands and feet. The similarity to the Greig syndrome is discussed.[ncbi.nlm.nih.gov] […] callosum, a ventricular septal defect (VSD), postaxial polydactyly of fingers, cleft soft palate, intestinal malrotation, large anterior fontanelle, prominent forehead, hypertelorism[ncbi.nlm.nih.gov]

    Missing: Wide Space Between the First and Second Toe
  • 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] Affiliated tissues include heart and testes , and related phenotypes are hypertelorism and low-set ears[malacards.org]

    Missing: Preaxial Polysyndactyly
  • Dubowitz Syndrome

    Fig 2: A 9-year-old boy with Dubowitz syndrome with dental anomalies, hypertelorism, and unilateral ptosis.[healio.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] […] retardation is frequent; birth weight: 2.3 kg; length: 45 cm; cranial perimeter: 30 cm; delayed bone age. head: microcephaly; high forehead; sparse hair; broad nose; epicanthus; hypertelorism[atlasgeneticsoncology.org]

    Missing: Preaxial Polysyndactyly
  • Aarskog-Scott Syndrome

    As previously reported, 6 carrier females often show minor dysmorphic features such as hypertelorism and widow's peak.[doi.org] The acrocallosal syndrome comprises preaxial polysyndactyly, macrocephaly, agenesis of the corpus callosum, mental retardation, seizures, and hernias [ 20 ].[ojrd.biomedcentral.com] Individuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat feet; males have a shawl scrotum.[ncbi.nlm.nih.gov]

    Missing: Wide Space Between the First and Second Toe
  • Craniofrontonasal Dysplasia

    […] to correct the hypertelorism.[childrens.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] Nine patients had surgery for hypertelorism. The preferred technique for hypertelorism correction was facial bipartition.[ncbi.nlm.nih.gov]

    Missing: Preaxial Polysyndactyly
  • Frontonasal Dysplasia

    The correction of hypertelorism was performed with orbital rotation surgery when he was thirteen years old.[ncbi.nlm.nih.gov] All 5 had a frontonasal malformation of the face and nasal clefting associated with striking symmetrical preaxial polysyndactyly of the feet and variable tibial hypoplasia[doi.org] A general discussion of ocular hypertelorism and dystopia canthorum is presented. Ocular hypertelorism is considered a sign which may occur in a variety of disorders.[ncbi.nlm.nih.gov]

    Missing: Wide Space Between the First and Second Toe
  • Familial Congenital Nasolacrimal Duct Obstruction

    Hypertelorism, shallow orbits, strabismus, proptosis Pfeiffer syndrome Hypertelorism, proptosis, strabismus Saethre-Chotzen syndrome Hypertelorism, ptosis, strabismus, nasolacrimal[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] Laleye et al. (2002) described a child with a deletion of 11q24-qter who had severe hypotonia, dolichocephaly, hypertelorism, long philtrum, and poorly formed and low-set[genome.jp]

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