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13 Possible Causes for Single Transverse Palmar Crease, Skeletal Dysplasia, Wide Space Between the First and Second Toe

  • Down Syndrome

    transverse palmar crease, and short fifth finger with clinodactyly.[dx.doi.org] Dysplasia Society, Southeastern Regional Genetics Group Disclosure: Nothing to disclose.[emedicine.medscape.com] spacing, often with a deep plantar groove between the first and second toes.[dx.doi.org]

  • Seckel Syndrome

    transverse palmar crease 0000954 Sloping forehead Inclined forehead Receding forehead [ more ] 0000340 Small anterior fontanelle 0000237 Small for gestational age Birth weight[rarediseases.info.nih.gov] Based on the clinical and radiological features showing evidence of skeletal dysplasia, the diagnosis was revised to Majewski osteodysplastic primordial dwarfism type II ([ncbi.nlm.nih.gov] Dysplasias and Disorders Panel.[blueprintgenetics.com]

  • Atelosteogenesis Type 2

    transverse palmar creases.[documents.tips] Thanatophoric dysplasia and achondrogenesis account for 62% of all lethal skeletal dysplasias. Achondroplasia is the most common nonlethal skeletal dysplasia.[thehealthscience.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]

  • Kenny-Caffey Syndrome Type 1

    transverse palmar crease, and wide space between the first and second toes.[medcraveonline.com] Hereditary skeletal dysplasia resulting in proportionate dwarfism characterized by thickening of the inner corticalis and stenosis of the medullary cavities of the tubular[accessanesthesiology.mhmedical.com] During the course of his fellowship, he initiated positional cloning studies of an autosomal recessive skeletal dysplasia, the Kenny-Caffey Syndrome (KCS), using eight consanguineous[grantome.com]

  • Seckel Syndrome Type 2

    transverse palmar crease 0000954 Sloping forehead Inclined forehead Receding forehead [ more ] 0000340 Small anterior fontanelle 0000237 Small for gestational age Birth weight[rarediseases.info.nih.gov] Skeletal dysplasia extended panel ALPL, ARSE, COL10A1, COL11A1, COL11A2,...[centogene.com] (radial dislocation), dislocation of the elbows, dislocation and/or malformation (dysplasia) of the hips, and/or an inability to fully extend the knees.[rarediseases.org]

  • Adactyly of Foot

    […] palpebral fissure Death in infancy Single transverse palmar crease Thin vermilion border Joint hyperflexibility Postnatal growth retardation Monorchism Need help with a diagnosis[mendelian.co] The prevalence of skeletal dysplasias ranges from 2.3 to 7.6 per 10,000 births and approximately 1.5 per 10,000 births for lethal skeletal dysplasias ( 13, 14 and 15 ).[musculoskeletalkey.com] 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]

  • Cutis Laxa

    Many patients exhibit single transverse palmar creases.[scielo.br] In the neonatal period, brachydactyly and facial dysmorphism are two early distinctive signs, later followed by intellectual disability and hyperostotic skeletal dysplasia[ncbi.nlm.nih.gov] In contrast, Menkes disease, at the more severe end of the spectrum, shows severe neuromotor delay and a metaphyseal skeletal dysplasia with growth retardation in addition[cmgg.be]

  • Acrofacial Dysostosis Type Catania

    The signs and symptoms of Acrofacial Dysostosis, Catania type may include: Widow's peak Single transverse palmar crease Very frequently present symptoms in 80-99% of the cases[dovemed.com] ., 1990]Pitt syndrome of prenatal growth retardation, MR, unusual facies [1984]Say syndrome of cloverleaf skull, skeletal dysplasia [1987]Scapulo-Iliac dysostosis [Kosenow[docslide.net] He had a wide space between the first and second toe of his feet and subungual fibroma on the second and third toe of the right foot and on the third toe of the left foot.[jmg.bmj.com]

  • Baraitser Syndrome

    transverse palmar crease Intestinal malrotation Premature birth Growth hormone deficiency Fine hair Hypoglycemia Macrocephaly Frontal bossing Behavioral abnormality Pes planus[mendelian.co] Seckel syndrome panel ATR, RBBP8, CENPJ, CEP152, CEP63, ATRIP Skeletal dysplasia ciliopathy panel DYNC2H1, EVC, EVC2, IFT43, IFT80,...[centogene.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]

  • Tricho-Oculo-Dermo-Vertebral Syndrome

    transverse palmar crease Facial wrinkling Hip contracture Abnormality of primary teeth Subglottic stenosis Midface retrusion Tracheal stenosis Poor wound healing Sparse eyebrow[mendelian.co] Very Small Stature, Not Skeletal Dysplasia Brachmann?[callisto.ro] space between the first and second toes, and fusion of carpal and tarsal bones.[findzebra.com]

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