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Craniodiaphyseal Dysplasia

Hyperostosis Frontalis Interna


Presentation

  • A nine-year-old boy with craniodiaphyseal dysplasia (CDD) presented for mandibular reduction. Patients with CDD present problems to the anaesthetist, specifically difficulties with airway management and tracheal intubation.[ncbi.nlm.nih.gov]
  • 1513 Synonym(s): - Prevalence: Inheritance: Autosomal dominant or Autosomal recessive or Not applicable Age of onset: Childhood ICD-10: M85.2 OMIM: 122860 218300 UMLS: C0410539 MeSH: - GARD: 1567 MedDRA: - The documents contained in this web site are presented[orpha.net]
  • Case Report A 10-year-old-female child presented to our hospital with left-sided epiphora and abnormal features. There was no family history of similar complaints or other genetic disorders.[ijo.in]
  • In 1974, another doctor presented three more cases of lionitis, drawing attention to the fact that this condition might have a genetic cause.[healthh.com]
Saddle Nose
  • nose, broad flat nasal bridge, choanal stenosis, increased intracranial pressure, headaches, seizures, mental retardation (however, in the majority of cases developmental progress was normal until hindered by progressive deterioration in vision and hearing[iofbonehealth.org]
Vomiting
  • […] respond to the administration of synthetic calcitonin but, in some cases, it was discovered that the head circumference had actually decreased; unfortunately, the therapy with synthetic calcitonin leads to a wide range of side-effects, such as nausea, vomiting[healthh.com]
  • […] combined immunodeficiency disease Dihydropyrimidinase deficiency Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting[amp.pharm.mssm.edu]
Chronic Diarrhea
  • diarrhea disease (CDD) in rhesus macaques (Macaca mulatta). ( 24532180 ) Kanthaswamy S...Lerche N 2014 8 CDD: conserved domains and protein three-dimensional structure. ( 23197659 ) Marchler-Bauer A...Bryant SH 2013 9 The Collaborative Drug Discovery[malacards.org]
Heart Failure
  • Severe congenital neutropenia 6, autosomal recessive Dyggve-Melchior-Clausen syndrome Congenital disorder of glycosylation type 1Q Cardiac arrest A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure[amp.pharm.mssm.edu]
Muscle Cramp
  • cramps acral enlargement Johnson Munson syndrome Chromosome Xq28 deletion syndrome Hunter-McAlpine syndrome Neuroaxonal dystrophy, infantile Branchiootic syndrome Hereditary sensory and autonomic neuropathy type 2 Ring chromosome 12 Ichthyosis, leukocyte[checkrare.com]
  • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps Amyotrophic lateral sclerosis type 6 A type of ALS caused_by mutation located_in FUS gene located_in chromosome 16.[amp.pharm.mssm.edu]
Coarse Face
  • Craniodiaphyseal dysplasia Symptoms and Signs CDD patients appear to have abnormal rib structure, broad nose, coarse face, dense/thickened skull, depressed nasal bridge, enlarged diaphysis, and enlarged jaw.[illnessopedia.org]
Postural Defect
  • In some cases, a postural defect in the metaphyses may also be noted. Craniodiaphyseal dysplasia Causes It is supposed to be hereditary, although the underlying genetics is unclear. The disease is acquired in an autosomal recessive fashion.[primehealthchannel.com]
  • defect in the metaphyses Some of the complications of CDD are severe facial deformity, facial diplegia, complete hearing inability, nasolacrimal obstruction, quadriparesis, significant brain compression, mechanical damage of nerve fibers and deformation[ehealthhall.com]

Workup

  • […] muscle mass and muscle weakness ( 39 %) reported Abnormal gait reported in a 2 yr old Waddling gait in 48 % reported Plain radiographs can be useful in the workup of neuromuscular disorders in children Camurati-Engelmann Disease and other dysplasias should[orthopaedicsone.com]

Treatment

  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • We report the only case of CDD in an adult, with stenosis of the cervical canal leading to quadriparesis as a late complication of hyperostosis, and describe the problems associated with its treatment.[ncbi.nlm.nih.gov]

Prognosis

  • The diagnostic distinction can now be made radiologically by serial skeletal survey which is important for prognosis.[ncbi.nlm.nih.gov]
  • Prognosis - Craniodiaphyseal dysplasia Not supplied. Treatment - Craniodiaphyseal dysplasia Not supplied. Resources - Craniodiaphyseal dysplasia Not supplied.[checkorphan.org]
  • Pictures Prognosis The prognosis of CDD is poor despite some management done. The advantages of performing craniofacial remodeling, choanal stenosis surgery and dacryocystorhinostomy among patients is only good for a short period.[ehealthhall.com]
  • Craniodiaphyseal dysplasia Prognosis The outcome is poor. Generally, benefits from dacryocystorhinostomy, craniofacial remodeling and choanal stenosis surgery persist only for a short time.[primehealthchannel.com]
  • Life Expectancy As the progression of this condition cannot be kept under control and no treatment has been found, the prognosis is negative.[healthh.com]

Etiology

  • The etiology of visual symptoms in some case have been presumed to have occurred solely due to compressive optic neuropathy[19,20]; however, symptoms can also be because of papilloedema secondary to raised intracranial pressure [15].[cyberleninka.org]

Epidemiology

  • Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular[books.google.de]
  • Relevant External Links for SOST Genetic Association Database (GAD) SOST Human Genome Epidemiology (HuGE) Navigator SOST Atlas of Genetics and Cytogenetics in Oncology and Haematology: SOST No data available for Genatlas for SOST Gene Bone dysplasia sclerosteosis[genecards.org]
  • A genetic and epidemiological study. Clin Genet 31:86-90 109. Bollerslev J, Grodum E, Grcntved A (1987) Autosomal dominant osteopetrosis. J Laryngol Otol 101:1088-1091 110.[slideheaven.com]
Sex distribution
Age distribution

Pathophysiology

  • Although the syndrome is rare, its pathophysiological and therapeutic considerations may be applicable to the management of stenosis of the spinal canal in other hyperostotic bone disorders.[ncbi.nlm.nih.gov]
  • This disease is characterized by defective metaphyseal remodeling, which leads to widening of metaphyseal region of long bones. [1] , [2] , [3] , [4] As per Pyle, who first described the disease in 1931, failure of bone resorption is the pathophysiological[ijmdent.com]
  • Stein SA, Witkop C, Hills S, Fallon MD (1983) Sclerosteosis: neurogenic and pathophysiologic analysis of an American kinship. Neurology 33:267-277 224. Sugiura Y, Yasuhara T (1975) Sclerosteosis. J Bone Joint Surg [Am] 57:273-276 225.[slideheaven.com]

Prevention

  • Prevention - Craniodiaphyseal dysplasia Not supplied.[checkorphan.org]
  • Heterozygous mutations located in the secretion signal of the SOST gene prevent sclerostin secretion and can be responsible for craniodiaphyseal dysplasia.[nectarmutation.org]
  • It has been observed heterozygous mutations located in the secretion signal of the SOST gene in two CDD patients and demonstrated that these SOST mutations prevent sclerostin secretion resulting in increased bone formation.[iofbonehealth.org]
  • It is always best to seek medical attention at an early phase of life, particularly even during infancy period, so that earlier management can be started to control and prevent the progression of the problem into its worst case.[ehealthhall.com]

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