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57 Possible Causes for Craniosynostosis in Infantile Form

  • Rathbun Syndrome

    Childhood HPP is highly variable, and severe and mild forms should be considered, these are less severe than the infantile form.[rarediseases.org] Affected children may sometimes have craniosynostosis and exhibit signs of intracranial hypertension.[rarediseases.org]

  • Osteoporosis

    […] in young children with the infantile form of hypophosphatasia Baseline dental evaluation Baseline orthopedic evaluation Consultation with a clinical geneticist and/or genetic[web.archive.org] Perinatal and most infantile cases of hypophosphatasia are inherited in an autosomal recessive manner.[web.archive.org] The milder forms, especially adult and odontohypophosphatasia, may be inherited in an autosomal recessive or autosomal dominant manner depending on the effect that the ALPL[web.archive.org]

  • Craniosynostosis

    Patients with HPP have defective bone mineralization as well as craniosynostosis that can be seen in the infantile and childhood forms of this disease.[ncbi.nlm.nih.gov] Traditionally, HPP has had a poor prognosis, with few children surviving to exhibit the phenotype of clinical craniosynostosis that requires surgical intervention.[ncbi.nlm.nih.gov]

  • Hypophosphatasia

    Patients with HPP have defective bone mineralization as well as craniosynostosis that can be seen in the infantile and childhood forms of this disease.[ncbi.nlm.nih.gov] In the infantile form, craniosynostosis can lead to increased intracranial pressure.[boneandspine.com] In the infantile form, craniosynostosis can lead to increased intracranial pressure. Nishioka T, Tomatsu S, Gutierrez MA, et al.[emedicine.medscape.com]

  • Cleidocranial Dysplasia

    form may present w/very poorly mineralized cranium, widened cranial sutures short ribs, & narrow thorax.[ncbi.nlm.nih.gov] form may present w/very poorly mineralized cranium, widened cranial sutures short ribs, & narrow thorax Very low alkaline phosphatase activity in serum & tissues Clavicles[ncbi.nlm.nih.gov] […] anomalies Skin lesions (porokeratosis) Hypophosphatasia 2 ALPL AR AD 3 Generalized defect of mineralization w/delayed ossification of multiple skeletal elements Children w/infantile[ncbi.nlm.nih.gov]

  • Mesoaxial Synostotic Syndactyly with Phalangeal Reduction

    TCIRG1 Osteopetrosis, severe neonatal or infantile forms (OPTB1) TCOF1 Treacher Collins syndrome TCTN3 Joubert syndrome, Orofaciodigital syndrome (Mohr-Majewski syndrome)[genda.com.ar] STIL Microcephaly SYN1 Epilepsy, with variable learning disabilities and behavior disorders TBX3 Ulnar-Mammary syndrome TBX19 Adrenocorticotropic hormone deficiency TCF12 Craniosynostosis[genda.com.ar] Lange syndrome SMC3 Cornelia de Lange syndrome SOX9 46,XY sex reversal, Brachydactyly with anonychia (Cooks syndrome), Campomelic dysplasia TBX3 Ulnar-Mammary syndrome TCF12 Craniosynostosis[genda.com.ar]

  • Warburg Micro Syndrome 3

    TCIRG1 Osteopetrosis, severe neonatal or infantile forms (OPTB1) TCOF1 Treacher Collins syndrome TCTN3 Joubert syndrome, Orofaciodigital syndrome (Mohr-Majewski syndrome)[genda.com.ar] STIL Microcephaly SYN1 Epilepsy, with variable learning disabilities and behavior disorders TBX3 Ulnar-Mammary syndrome TBX19 Adrenocorticotropic hormone deficiency TCF12 Craniosynostosis[genda.com.ar] Lange syndrome SMC3 Cornelia de Lange syndrome SOX9 46,XY sex reversal, Brachydactyly with anonychia (Cooks syndrome), Campomelic dysplasia TBX3 Ulnar-Mammary syndrome TCF12 Craniosynostosis[genda.com.ar]

  • Schwartz-Lelek Syndrome

    TCIRG1 Osteopetrosis, severe neonatal or infantile forms (OPTB1) TCOF1 Treacher Collins syndrome TCTN3 Joubert syndrome, Orofaciodigital syndrome (Mohr-Majewski syndrome)[genda.com.ar] STIL Microcephaly SYN1 Epilepsy, with variable learning disabilities and behavior disorders TBX3 Ulnar-Mammary syndrome TBX19 Adrenocorticotropic hormone deficiency TCF12 Craniosynostosis[genda.com.ar] Lange syndrome SMC3 Cornelia de Lange syndrome SOX9 46,XY sex reversal, Brachydactyly with anonychia (Cooks syndrome), Campomelic dysplasia TBX3 Ulnar-Mammary syndrome TCF12 Craniosynostosis[genda.com.ar]

  • Singleton Merten Syndrome

    form, Haemochromatosis , Hypophosphatemic rickets , Infantile sialic acid storage disorder , Lysinuric protein intolerance , Menkes Disease , Methylmalonic acidemia , Oxalosis[wikidoc.org] Cystathionine beta-synthase deficiency , Dibasic aminoaciduria 2 , Excessive Dieting , Fabry's disease , Glycerol kinase deficiency , Homocystinuria , Hyperglycerolemia - infantile[wikidoc.org] Pelizaeus-Merzbacher disease, recessive, acute infantile , Rajab-Spranger syndrome , Snyder-Robinson syndrome, Spinocerebellar ataxia -- dysmorphism, Shprintzen-Golberg craniosynostosis[wikidoc.org]

  • Osteoglophonic Dwarfism

    TCIRG1 Osteopetrosis, severe neonatal or infantile forms (OPTB1) TCOF1 Treacher Collins syndrome TCTN3 Joubert syndrome, Orofaciodigital syndrome (Mohr-Majewski syndrome)[genda.com.ar] STIL Microcephaly SYN1 Epilepsy, with variable learning disabilities and behavior disorders TBX3 Ulnar-Mammary syndrome TBX19 Adrenocorticotropic hormone deficiency TCF12 Craniosynostosis[genda.com.ar] Lange syndrome SMC3 Cornelia de Lange syndrome SOX9 46,XY sex reversal, Brachydactyly with anonychia (Cooks syndrome), Campomelic dysplasia TBX3 Ulnar-Mammary syndrome TCF12 Craniosynostosis[genda.com.ar]

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