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2,096 Possible Causes for Craniosynostosis, Delayed Acquisition of Motor Skills, Mild Rib Sclerosis

  • Achondroplasia

    Spine radiograph lateral view (b) demonstrating mild platyspondyly and expansion of anterolateral parts of the ribs with “club-shaped” configuration (arrows).[] Despite sharing a common genetic basis, craniosynostosis has rarely been described in cases of confirmed achondroplasia.[] Although craniosynostosis is known to occur in allelic conditions such as thanatophoric dysplasia, craniosynostosis in individuals with achondroplasia is exceedingly rare.[]

  • Mowat-Wilson Syndrome

    The mental retardation, usually severe, was constant; the delay in the acquisition of motor skills was more variable (table 2).[] Less common clinical features include ocular anomalies, craniosynostosis, mild intellectual disability, and choanal atresia.[] 2015 22 Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome. ( 25899569 ) Bourchany A....Faivre L. 2015 23 "CHARGE-like presentation, craniosynostosis[]

    Missing: Mild Rib Sclerosis
  • Hypophosphatasia

    Individuals with this form of the disease are at risk for rickets, skeletal complications including fractures, and can have delayed acquisition of age-appropriate motor skills[] Craniosynostosis is accompanied by putatively functional consequences.[] The motor delay can affect the acquisition of other skills, resulting in apparent cognitive delay in some cases (unpublished observations).[]

    Missing: Mild Rib Sclerosis
  • Metaphyseal Chondrodysplasia, Spahr Type

    Nigricans AD Jackson-Weiss syndrome AD Saethre-Chotzen syndrome AD Craniosynostosis Muenke Type AD Craniosynostosis Boston Type AD Craniosynostosis Adelaide Type AD Craniosynostosis[] Craniosynostosis, Boston type Craniosynostosis, Herrmann-Opitz type Craniosynostosis, Philadelphia type Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome[] Vajo Z, Francomano CA, Wilkin DJ: The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis[]

    Missing: Mild Rib Sclerosis
  • Cole-Carpenter Syndrome

    Therapists facilitate the acquisition of gross motor skills progressively through play, the use of specialist equipment and functional tasks.[] Cole-Carpenter syndrome-1 (CLCRP1) is an independent osteogenesis imperfect (OI)-like disorder that manifests as bone fragility, craniosynostosis, ocular proptosis, hydrocephalus[] Despite the craniosynostosis and hydrocephalus, intellectual development is normal. CLCRP1 inheritance is autosomal dominant.[]

    Missing: Mild Rib Sclerosis
  • Cerebro-Facio-Thoracic Dysplasia

    […] deficit disorder Attention deficit-hyperactivity disorder Attention deficits Childhood attention deficit/hyperactivity disorder [ more ] 0007018 Bull's eye maculopathy 0011504 Craniosynostosis[] […] and dental anomalies IL11RA Craniosynostosis type 1 TWIST1 Craniosynostosis type 2 MSX2 Craniosynostosis type 3 TCF12 Craniosynostosis type 4 ERF Craniosynostosis type 6[] Hernia Syndrome Craniosynostosis-Arthrogryposis-Cleft Palate Syndrome Craniosynostosis-Ataxia-Trigeminal Anesthesia-Parietal Anesthesia And Pons-Vermis Fusion Syndrome Craniosynostosis-Lid[]

    Missing: Mild Rib Sclerosis
  • Muscular Dystrophy-Dystroglycanopathy Type C4

    , MEGF8, MSX2, POR, RAB23, RECQL4, SKI, SLC25A24, TCF12, TGFBR1, TGFBR2, TWIST1, WDR19, WDR35, ZIC1 Del Dup NGS Craniosynostosis, type 1 TWIST1 Sanger Del Dup NGS Crouzon[] […] recessive form Conotruncal heart malformations Cornelia de Lange syndrome 1 CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED Coxa plana Craniofacial deafness hand syndrome Craniosynostosis[] […] core NGS panel FGFR1, FGFR2, FGFR3, TCF12, TWIST1 Del Dup NGS Craniosynostosis NGS panel CDC45, CYP26B1, EFNB1, ERF, FGFR1, FGFR2, FGFR3, FREM1, GLI3, IFT122, IFT43, IL11RA[]

    Missing: Mild Rib Sclerosis
  • Frontonasal Dysplasia

    They occasionally have developmental delay initially, as the large head slows acquisition of motor skills.[] Patients with craniofrontanasal dysplasia will need surgery to treat their craniosynostosis, if this condition is present.[] Only a small number of genes have been associated with FND phenotypes until now, the first gene being EFNB1, related to craniofrontonasal syndrome (CFNS) with craniosynostosis[]

    Missing: Mild Rib Sclerosis
  • Infantile-Onset Ascending Hereditary Spastic Paralysis

    Adult-onset distal myopathy due to VCP mutation Adult-onset dystonia-parkinsonism Adult-onset myasthenia gravis Adult-onset nemaline myopathy Agammaglobulinemia-microcephaly-craniosynostosis-severe[] […] aplasia Cranio-cervical dystonia with laryngeal and upper-limb involvement Craniodigital-intellectual disability syndrome Craniofrontonasal dysplasia Craniorachischisis Craniosynostosis-Dandy-Walker[]

    Missing: Mild Rib Sclerosis
  • Muscular Dystrophy-Dystroglycanopathy Type C2

    Craniosynostosis, Boston type Craniosynostosis, Herrmann-Opitz type Craniosynostosis, Philadelphia type Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome[] Craniosynostosis-anal anomalies-porokeratosis syndrome Craniosynostosis-cataract syndrome Craniosynostosis-dental anomalies Craniosynostosis-dysmorphism-brachydactyly syndrome[] Craniosynostosis-fibular aplasia syndrome Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome Craniosynostosis-intracranial calcifications[]

    Missing: Mild Rib Sclerosis

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