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10 Possible Causes for 11 Rib Pairs, Multiple Congenital Anomalies, 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] Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes. nd. 3pp. www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?index 583[rarediseases.org]

  • 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] […] type I and III Human diseases in ICD-11 classification [BR: br08403 ] 20 Developmental anomalies Multiple developmental anomalies or syndromes LD24 Syndromes with skeletal[genome.jp]

  • 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] congenital anomalies.[hub.hku.hk]

  • Trisomy 10p

    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] spaced, inverted nipples, mild pectus excavatum; and a sandal gap between the first and second toes.[jmg.bmj.com] congenital anomalies.[ncbi.nlm.nih.gov]

  • Seckel Syndrome Type 2

    pairs of ribs 0000878 Abnormal finger flexion creases 0006143 Abnormality of the pinna Abnormally shaped ears Auricular malformation Deformed ears Malformed ears Simple ears[rarediseases.info.nih.gov] Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes. nd. 3pp. www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?[rarediseases.org] congenital anomalies-hypotonia-seizures syndrome type 1 PIGN Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects B3GAT3 Myhre[centogene.com]

  • 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] Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal[blueprintgenetics.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] However, chromosomal studies are probably warranted in any child with scalp aplasia cutis congenita associated with multiple congenital anomalies when a specific syndrome[annsaudimed.net]

  • Greenberg Dysplasia

    pairs of ribs 0000878 Abnormal circulating cholesterol concentration Abnormality of cholesterol metabolism 0003107 Abnormal foot bone ossification 0010675 Abnormal joint[rarediseases.info.nih.gov] Winter and Michael Baraitser, A catalogue of multiple congenital anomaly syndromes, Multiple Congenital Anomalies, 10.1007/978-1-4899-3109-2_1, (1-672), (1991). Helen E.[doi.org] Andersson HC, Kratz L, Kelley R (2002) Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay.[link.springer.com]

  • Adactyly of Foot

    pairs of ribs Delayed cranial suture closure Increased intracranial pressure Submucous cleft hard palate Behavioral abnormality Broad hallux phalanx Aqueductal stenosis Foot[mendelian.co] Synonyms:Anterior Polydactyly Replaces: Anterior Duplication of the Limb, Tibial Polydactyly Foot, Preaxial Polydactyly of Subjective: A widely spaced gap between the first[quizlet.com] . // Orphanet Journal of Rare Diseases;2008, Vol. 3, Special section p1 The Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome[connection.ebscohost.com]

  • Heimler Syndrome

    pairs of ribs Lumbar scoliosis Abnormally large globe Abnormal cortical gyration Cone-shaped epiphyses of the phalanges of the hand Elbow flexion contracture Myeloid leukemia[mendelian.co] congenital anomalies.[centogene.com] […] amaurosis 1204000 HARSCharcot-Marie-Tooth disease, axonal, type 2W,616625 HARSUsher syndrome type 3B,614504 HCCSLinear skin defects with multiple congenital anomalies 1309801[qgenomics.com]

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