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123 Possible Causes for Hypoplastic Pons, Psychomotor Development Profoundly Delayed, Wide Space Between the First and Second Toe

  • Amish Lethal Microcephaly

    delayed psychomotor development, brain malformations, and episodic encephalopathy associated with lactic acidosis, alpha-ketoglutaric aciduria and death within the first[medical-dictionary.thefreedictionary.com] Get Update Overview Amish type microcephaly is a severe autosomal recessive metabolic disorder characterized by severe microcephaly apparent at birth, profoundly delayed psychomotor[diseaseinfosearch.org] […] redirected from Amish lethal microcephaly ) microcephaly Amish type An autosomal recessive metabolic disorder (OMIM:607196) characterised by severe congenital microcephaly, profoundly[medical-dictionary.thefreedictionary.com]

    Missing: Wide Space Between the First and Second Toe
  • Seckel Syndrome

    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] Wide space between first and second toes Wide-spaced big toe Widely spaced 1st-2nd toes Widely spaced first and second toes Widened gap 1st-2nd toes Widened gap first and[rarediseases.info.nih.gov] Wide space between first and second toes Widely spaced 1st-2nd toes Widely spaced first and second toes Widened gap 1st-2nd toes Widened gap first and second toe [ more ][rarediseases.info.nih.gov]

    Missing: Hypoplastic Pons
  • Congenital Muscular Dystrophy

    Magnetic resonance imaging of the brain at 3.5 years of age showed increased T2 signal from supratentorial and infratentorial white matter, a hypoplastic pons and subcortical[ncbi.nlm.nih.gov] […] midbrain, vermian hypoplasia /- cephalocele Described features in general include: cobblestone brain myelination defects Z-shaped brainstem/hypoplastic vermis ventriculomegaly[radiopaedia.org] […] matter /- callosal dysgenesis CMD 4 : Walker-Warburg syndrome, most severe, with cobblestone brain, massive ventriculomegaly with absent/abnormal callosum, no myelin, kinked pons[radiopaedia.org]

    Missing: Psychomotor Development Profoundly Delayed Wide Space Between the First and Second Toe
  • 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.[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[doi.org]

    Missing: Hypoplastic Pons Psychomotor Development Profoundly Delayed
  • Dubowitz Syndrome

    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] Wide space between first and second toes Wide-spaced big toe Widely spaced 1st-2nd toes Widely spaced first and second toes Widened gap 1st-2nd toes Widened gap first and[rarediseases.info.nih.gov] […] infection infections, recurrent Predisposition to infections Susceptibility to infection [ more ] 0002719 Respiratory insufficiency Respiratory impairment 0002093 Sandal gap Gap between[rarediseases.info.nih.gov]

    Missing: Hypoplastic Pons Psychomotor Development Profoundly Delayed
  • Ring Chromosome 10

    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] Wide space between first and second toes Wide-spaced big toe Widely spaced 1st-2nd toes Widely spaced first and second toes Widened gap 1st-2nd toes Widened gap first and[rarediseases.info.nih.gov] […] weak muscle tone 0001252 Pectus excavatum Funnel chest 0000767 Renal hypoplasia/aplasia Absent/small kidney Absent/underdeveloped kidney [ more ] 0008678 Sandal gap Gap between[rarediseases.info.nih.gov]

    Missing: Hypoplastic Pons Psychomotor Development Profoundly Delayed
  • Atelosteogenesis Type 2

    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] Wide space between first and second toes Wide-spaced big toe Widely spaced 1st-2nd toes Widely spaced first and second toes Widened gap 1st-2nd toes Widened gap first and[rarediseases.info.nih.gov] Flattened vertebrae 0000926 Pulmonary hypoplasia Small lung Underdeveloped lung [ more ] 0002089 Respiratory insufficiency Respiratory impairment 0002093 Sandal gap Gap between[rarediseases.info.nih.gov]

    Missing: Hypoplastic Pons Psychomotor Development Profoundly Delayed
  • Horizontal Gaze Palsy with Progressive Scoliosis

    Brain MRI revealed a hypoplastic pons and medulla with a prominent midline cleft and an enlarged fourth ventricle (Fig. 2).[journals.lww.com] Brain MR imaging revealed a hypoplastic pons in which the posterior two-thirds were split into two halves by a midsagittal cleft extending ventrally from the fourth ventricular[ajnr.org] A hypoplastic pons in which the posterior two-thirds were split into two halves by a midsagittal cleft extending ventrally from the fourth ventricular floor, generating a[repository.countway.harvard.edu]

    Missing: Psychomotor Development Profoundly Delayed Wide Space Between the First and Second Toe
  • Kleiner Holmes Syndrome

    […] 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] […] gap between first and second toes Wide space between 1st, 2nd toes Wide space between first and second toes Wide-spaced big toe Widely spaced 1st-2nd toes Widely spaced first[rarediseases.info.nih.gov] Showing of 7 80%-99% of people have these symptoms Sandal gap Gap between 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal[rarediseases.info.nih.gov]

    Missing: Hypoplastic Pons Psychomotor Development Profoundly Delayed
  • Craniofrontonasal Dysplasia

    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] Wide space between first and second toes Wide-spaced big toe Widely spaced 1st-2nd toes Widely spaced first and second toes Widened gap 1st-2nd toes Widened gap first and[rarediseases.info.nih.gov] […] weak muscle tone 0001252 Oral cleft Cleft of the mouth 0000202 Plagiocephaly Flat head syndrome Flattening of skull Rhomboid shaped skull [ more ] 0001357 Sandal gap Gap between[rarediseases.info.nih.gov]

    Missing: Hypoplastic Pons Psychomotor Development Profoundly Delayed