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314 Possible Causes for Craniosynostosis, Single Transverse Palmar Crease

  • Down Syndrome

    transverse palmar crease, and short fifth finger with clinodactyly.[dx.doi.org] Boyadjiev, Genetic advances in craniosynostosis, American Journal of Medical Genetics Part A, 173, 5, (1406-1429), (2017) ., Practice Bulletin No. 187, Obstetrics & Gynecology[doi.org] transverse palmar creases ( 60% of patients) Joint hyperextensibility or hyperflexibility Neuromuscular hypotonia Diastasis recti Dry skin Premature aging Congenital heart[emedicine.com]

  • Rubinstein-Taybi Syndrome

    transverse palmar crease 0000954 Spina bifida occulta 0003298 Sporadic No previous family history 0003745 Stereotypy Repetitive movements Repetitive or self-injurious behavior[rarediseases.info.nih.gov] The term craniosynostosis refers to an abnormality in which the bones in an infant's skull fuse prematurely.[forgottendiseases.org] FGFR -related craniosynostosis is inherited in an autosomal dominant manner.[ncbi.nlm.nih.gov]

  • Gorlin-Chaudhry-Moss Syndrome

    Anomalies of the extremities (hypoplastic distal phalanges, small/aplastic nails, cutaneous syndactyly, absent flexion crease of the thumbs, single transverse palmar creases[rarediseases.info.nih.gov] [Gorlin et al. (1960)] in two sisters with craniosynostosis, hypertrichosis, hypoplastic labia majora, dental defects, eye anomalies, patent ductus arteriosus, and normal[ncbi.nlm.nih.gov] De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.[ghr.nlm.nih.gov]

  • Postaxial Oligodactyly, Tetramelic

    transverse palmar crease 32 HP:0000954 9 radial bowing 32 HP:0002986 10 postaxial oligodactyly 32 HP:0006210 11 partial-complete absence of 5th phalanges 32 HP:0006209 12[malacards.org] * Craniosynostosis contractures cleft * Craniosynostosis exostoses nevus epibulbar dermoid * Craniosynostosis fibular aplasia * Craniosynostosis Fontaine type * Craniosynostosis[medicalgeek.com] transverse palmar crease Symptoms // Phenotype % cases Autosomal recessive inheritance Uncommon - Between 30% and 50% cases Bilateral single transverse palmar creases Uncommon[mendelian.co]

  • Saethre-Chotzen Syndrome

    Associated hands and feet malformations consist of bilateral single transverse palmar creases, syndactyly, broad thumbs, brachydactyly, hallux valgus, triphalangeal thumb,[symptoma.com] Furthermore, craniosynostosis was not present at birth or at the age of 4 months.[ncbi.nlm.nih.gov] transverse palmar creases 0007598 Blepharospasm Eyelid spasm Eyelid twitching Involuntary closure of eyelid Spontaneous closure of eyelid [2] The TWIST1 gene provides instructions[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] These reports illustrate that the Chiari I malformation can develop rapidly in the face of increased intracranial pressure, craniosynostosis, and spinal CSF diversion.[ncbi.nlm.nih.gov] […] diseases were distinguished by height: typically in Primary autosomal recessive microcephalies stature was between 1 SD and 2 SD and in Seckel syndrome between 4 and 12 SD) and Craniosynostosis[prenatalmedicine.com]

  • Kaufman Oculocerebrofacial Syndrome

    transverse palmar crease 0000954 Sparse and thin eyebrow Thin, sparse eyebrows 0000535 Ventricular septal defect Hole in heart wall separating two lower heart chambers 0001629[rarediseases.info.nih.gov] European Journal of Human Genetics 23 (8), 1068 , 2015 41 2015 Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations CP Kratz, G Zampino, M Kriek[scholar.google.it] transverse palmar crease Feeding difficulties in infancy Narrow forehead Brachydactyly Hypoplasia of the corpus callosum Craniosynostosis Constipation Hypermetropia Coloboma[mendelian.co]

  • Aarskog Syndrome

    transverse palmar crease 0000954 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Talipes 0001883 1%-4% of people have these symptoms Broad philtrum 0000289 Global[rarediseases.info.nih.gov] Craniosynostosis was noted in several of the earliest GCPS case reports, but we have observed this in very few patients.[ojrd.biomedcentral.com] Sporadic Symptoms Round face and a shorter neck, epicanthic folds, maxillary hypoplasia, which causes several facial abnormalities, and single transverse palmar crease may[news-medical.net]

  • Cranioectodermal Dysplasia

    We review 39 patients including two new patients, one with compound heterozygous novel mutations in WDR35 and a previously unreported multisutural craniosynostosis that may[ncbi.nlm.nih.gov] Clinical description CED is primarily characterized by an abnormal development of bones (i.e. craniosynostosis/dolichocephaly, narrow thorax, pectus excavatum, rhizomelic[orpha.net] He had very short, sparse hair and craniosynostosis. His stature, growth, and limb lengths were normal, as was his neurological development.[ncbi.nlm.nih.gov]

  • Mesoaxial Synostotic Syndactyly with Phalangeal Reduction

    transverse palmar crease 0000954 Symphalangism affecting the phalanges of the hallux Fused big toe bones 0010064 Showing of 19 Last updated: 5/1/2019 If you need medical[rarediseases.info.nih.gov] […] and dental anomalies IL11RA Craniosynostosis type 1 TWIST1 Craniosynostosis type 2 MSX2 Craniosynostosis type 3 TCF12 Craniosynostosis type 4 ERF Craniosynostosis type 6[centogene.com] Craniosynostosis, Boston type Craniosynostosis, Herrmann-Opitz type Craniosynostosis, Philadelphia type Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome[se-atlas.de]

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