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14 Possible Causes for Multiple Congenital Anomalies, Single Transverse Palmar Crease, Wide Space Between the First and Second Toe

  • Down Syndrome

    transverse palmar crease, and short fifth finger with clinodactyly.[dx.doi.org] spacing, often with a deep plantar groove between the first and second toes.[dx.doi.org] transverse palmar creases ( 60% of patients) Joint hyperextensibility or hyperflexibility Neuromuscular hypotonia Diastasis recti Dry skin Premature aging Congenital heart[emedicine.medscape.com]

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

  • 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] Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes. nd. 3pp. www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?index 583[rarediseases.org] Congenital Anomalies-Mental Retardation Syndrome Neurocutaneous Syndrome Neuroectodermal Hamartoma Neurofaciodigitorenal (Nfdr) Syndrome Neurofibromatosis With Noonan Phenotype[neo-genetics.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] 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

    transverse palmar creases.[documents.tips] 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]

  • 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] 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]

  • Cutis Laxa

    Many patients exhibit single transverse palmar creases.[scielo.br] Abstract The autosomal dominant progeroid form of cutis laxa is a recently identified multiple congenital anomaly disorder characterized by thin, wrinkled skin, a progeroid[ncbi.nlm.nih.gov] Multiple congenital anomalies: A diagnostic compendium. London: Chapman and Hall Medical; 1991. p. 145-6. 3.[e-ijd.org]

  • 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] 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] 604315 Anemia, Congenital Hypoplastic, with Multiple Congenital Anomalies/Mental Retardation Syndrome OMIM:206100 Anemia, Hypochromic Microcytic, with Iron Overload 1; AHMIO1[informatics.jax.org]

  • Kenny-Caffey Syndrome Type 1

    transverse palmar crease, and wide space between the first and second toes.[medcraveonline.com] Syndrome of hypoparathyroidism, growth hormone deficiency, and multiple minor anomalies. American journal of medical genetics, 1994, 52:334–8. Parvari R et al.[emro.who.int] space between the first and second toes.[medcraveonline.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] 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 and intellectual disability.[invitae.com]