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1,300 Possible Causes for 11 Rib Pairs, Dysmorphic Face, Wide Space Between the First and Second Toe

  • Seckel Syndrome

    In some cases, 11 pairs of ribs instead of the usual 12 Structural defects in the spine Bent fifth finger (clinodactyly) Foot in a twisted position (clubfoot) Excess body[medindia.net] 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] face (bird-like), and mild to severe intellectual disability.[orpha.net]

  • Atelosteogenesis

    pairs of ribs ; Aplasia/Hypoplasia of the ulna ; Autosomal dominant inheritance ; Brachydactyly ; Cleft palate ; Club-shaped proximal femur ; Clubbing ; Coronal cleft vertebrae[mousephenotype.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] Lethal short limb dwarfism with dysmorphic face, omphalocele and severe ossification defect: Piepkorn syndrome or severe “boomerang dysplasia”? .[nature.com]

  • 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: 11 Rib Pairs
  • Ring Chromosome 10

    Affected individuals may have abnormally thin ribs, 11 rather than 12 rib pairs, an abnormally short neck, abnormal front-to-back and side-to side curvature of the spine ([rarediseases.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] face, upward slanting palpebral fissures, broad nose, narrow nares, large lips, short neck, widely spaced nipples, puffy hand and feet, dark pigmented naevi, caf -au-lait[chr7.org]

  • Russell-Silver 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] […] and further dysmorphisms.[ncbi.nlm.nih.gov] The photographs show how development of a rounder face in females and jaw growth in males lessens the dysmorphic features with age.[jmg.bmj.com]

    Missing: 11 Rib Pairs
  • Atelosteogenesis Type 2

    pairs of ribs, hypoplastic scapulae, macrocephaly, flattened supraorbital ridges and nasal bridge, cleft palate, and micrognathia.[pubfacts.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] , and mental retardation, see genitopatellar syndrome absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate, see RAPADILINO[mygenomics.com]

  • Kleiner Holmes Syndrome

    Infantogram of the stillborn baby [Figure 5] revealed 11 pairs of ribs that were short and horizontally located, a narrow thorax, short upper limb bones, normal iliac bones[ijri.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] Mental Retardation, Microcephaly, Epilepsy, and Coarse Face Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism Mental Retardation[rgd.mcw.edu]

  • Trisomy 18

    pairs of ribs, diaphragmatic or inguinal hernia, Meckel's diverticulum, dorsiflexion of the big toes (rocker-bottom feet), webbed fingers with abnormal flexion, enlarged[web.archive.org] […] features include low birth weight, mental retardation, abnormal skull shape, lowset and malformed ears, small mandible, triangular mouth, cardiac defects, shield-like chest, 11[web.archive.org]

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

    Radiographs showed a small left iliac bone with non-ossification of the inferior pubic rami and short ischia on both sides, hypoplastic scapulae, 11 pairs of ribs, short first[jmg.bmj.com] Both have dysmorphic faces, while myopia and cleft palate may be present.[raredisorders.imedpub.com] Lethal short limb dwarfism with dysmorphic face, omphalocele and severe ossification defect: Piepkorn syndrome or severe “boomerang dysplasia”?.[nature.com]

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

    pairs of ribs TAS TAS OMIM:250220 HPO:probinson 17.02.2009 OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0000887 Cupped ribs TAS TAS OMIM:250220 HPO:probinson[sourceforge.net] face pelvic scapula dysplasia Short stature heart defect craniofacial anomalies Short stature hyperkaliemia acidosis Short stature locking fingers Short stature mental retardation[wikidoc.org] face pelvic scapula dysplasia Short stature hyperkaliemia acidosis Short stature mental retardation eye anomalies Short stature microcephaly seizures deafness Short stature[personalizedcause.com]

    Missing: Wide Space Between the First and Second Toe

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