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10 Possible Causes for Acrocephalosyndactyly, Single Transverse Palmar Crease, Wide Space Between the First and Second Toe

  • 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] Mutations cause several dominantly inherited congenital skeletal disorders: Crouzon syndrome, Pfeiffer syndrome, isolated coronal synostosis, Apert syndrome, Jackson-Weiss[molecularcytogenetics.biomedcentral.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]

  • 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] syndrome FGFR2 Athabaskan brainstem dysgenesis syndrome HOXA1 Atrial septal defect type 2 GATA4 Atrial septal defect with atrioventricular conduction defects NKX2-5 Atrioventricular[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]

  • Cutis Laxa

    Apert Syndrome Tara L Wenger, Anne V Hing, and Kelly N Evans. Initial Posting: May 30, 2019. Arginase Deficiency Derek Wong, Stephen Cederbaum, and Eric A Crombez.[ncbi.nlm.nih.gov] Many patients exhibit single transverse palmar creases.[scielo.br] Other reported osteoarticular features are: a wide space between the first and second toes; talipes equinovarus; metatarsus adductus; genu recurvatum or genu valgum; flat[scielo.br]

  • Seckel Syndrome Type 2

    syndrome FGFR2 Athabaskan brainstem dysgenesis syndrome HOXA1 Atrial septal defect type 2 GATA4 Atrial septal defect with atrioventricular conduction defects NKX2-5 Atrioventricular[centogene.com] 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] Alpha-thalassemia/mental retardation syndrome ATRX Ankyloblepharon-ectodermal defects-cleft lip/palate TP63 Anterior segment mesenchymal dysgenesis PITX3 Antley-Bixler syndrome FGFR2 Apert[centogene.com]

  • Atelosteogenesis Type 2

    (Apert), see Apert syndrome acrocephalosyndactyly III, see Saethre-Chotzen syndrome acrocephalosyndactyly, type II, see Carpenter syndrome Acrocephalosyndactyly, type III[mygenomics.com] 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]

  • Baraitser Syndrome

    syndrome FGFR2 Athabaskan brainstem dysgenesis syndrome HOXA1 Atrial septal defect type 2 GATA4 Atrial septal defect with atrioventricular conduction defects NKX2-5 Atrioventricular[centogene.com] 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]

  • 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] Type Accutane Dysmorphic Syndrome Acral Dysostosis With Facial And Genital Abnormalities Acro-Osteolysis Syndrome Acro-Osteolysis-Osteoporosis-Changes In Skull And Mandible Acrocephalosyndactyly[neo-genetics.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]

  • 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] Differential diagnosis can be considered with: Apert syndrome (a rare autosomal dominant disorder characterized by craniosynostosis, craniofacial anomalies, and severe symmetrical[scielo.br] 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]

  • MORM Syndrome

    transverse palmar crease 0000954 Small for gestational age Birth weight less than 10th percentile Low birth weight [ more ] 0001518 Thick corpus callosum 0007074 Thoracic[rarediseases.info.nih.gov] What is Apert syndrome?[seattlechildrens.org] syndrome, Antley–Bixler syndrome, Pfeiffer syndrome, Crouzon syndrome, Jackson–Weiss syndrome ) FGFR3 ( Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke[en.wikipedia.org]

  • 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] Figure 107.4 Apert syndrome: Typical facies of Apert’s syndrome.[entokey.com] space between the first and second toes, and fusion of carpal and tarsal bones.[findzebra.com]

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