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Calvarial osteosclerosis

MedGen UID:
340927
Concept ID:
C1855657
Finding
HPO: HP:0005450

Definition

An increase in bone density affecting the calvaria (roof of the skull). [from HPO]

Term Hierarchy

Conditions with this feature

Pettigrew syndrome
MedGen UID:
162924
Concept ID:
C0796254
Disease or Syndrome
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition. (From Mondo:0010574)
Autosomal dominant osteopetrosis 1
MedGen UID:
335932
Concept ID:
C1843330
Disease or Syndrome
The osteopetroses are a heterogeneous group of genetic disorders characterized by increased bone density due to impaired bone resorption by osteoclasts. Autosomal dominant osteopetrosis-1 (OPTA1) is characterized by generalized osteosclerosis most pronounced in the cranial vault. Patients are often asymptomatic, but some suffer from pain and hearing loss. It appears to be the only type of osteopetrosis not associated with an increased fracture rate (summary by Van Hul et al., 2002). Genetic Heterogeneity of Autosomal Dominant Osteopetrosis Autosomal dominant osteopetrosis-2 (OPTA2; 166600) is caused by mutation in the CLCN7 gene (602727) on chromosome 16p13. Autosomal dominant osteopetrosis-3 (OPTA3; 618107) is caused by mutation in the PLEKHM1 gene (611466) on chromosome 17q21.
Autosomal recessive osteopetrosis 1
MedGen UID:
376708
Concept ID:
C1850127
Disease or Syndrome
Osteopetrosis (OPT) is a life-threatening disease caused by subnormal osteoclast function, with an incidence of 1 in 250,000 births. The disease usually manifests in the first few months of life with macrocephaly and frontal bossing, resulting in a characteristic facial appearance. Defective bone remodeling of the skull results in choanal stenosis with concomitant respiratory problems and feeding difficulties, which are the first clinical manifestation of disease. The expanding bone encroaches on neural foramina, leading to blindness, deafness, and facial palsy. Complete visual loss invariably occurs in all untreated patients, and hearing loss is estimated to affect 78% of patients with OPT. Tooth eruption defects and severe dental caries are common. Calcium feedback hemostasis is impaired, and children with OPT are at risk of developing hypocalcemia with attendant tetanic seizures and secondary hyperparathyroidism. The most severe complication of OPT, limiting survival, is bone marrow insufficiency. The abnormal expansion of cortical and trabecular bone physically limits the availability of medullary space for hematopoietic activity, leading to life-threatening cytopenia and secondary expansion of extramedullary hematopoiesis at sites such as the liver and spleen (summary by Aker et al., 2012). Genetic Heterogeneity of Autosomal Recessive Osteopetrosis Other forms of autosomal recessive infantile malignant osteopetrosis include OPTB4 (611490), which is caused by mutation in the CLCN7 gene (602727) on chromosome 16p13, and OPTB5 (259720), which is caused by mutation in the OSTM1 gene (607649) on chromosome 6q21. A milder, osteoclast-poor form of autosomal recessive osteopetrosis (OPTB2; 259710) is caused by mutation in the TNFSF11 gene (602642) on chromosome 13q14, an intermediate form (OPTB6; 611497) is caused by mutation in the PLEKHM1 gene (611466) on chromosome 17q21, and a severe osteoclast-poor form associated with hypogammaglobulinemia (OPTB7; 612301) is caused by mutation in the TNFRSF11A gene (603499) on chromosome 18q22. Another form of autosomal recessive osteopetrosis (OPTB8; 615085) is caused by mutation in the SNX10 gene (614780) on chromosome 7p15. A form of autosomal recessive osteopetrosis associated with renal tubular acidosis (OPTB3; 259730) is caused by mutation in the CA2 gene (611492) on chromosome 8q21. OPTB9 (620366) is caused by mutation in the SLC4A2 gene (109280) on chromosome 7q36. Autosomal dominant forms of osteopetrosis are more benign (see OPTA1, 607634).
Craniometaphyseal dysplasia, autosomal dominant
MedGen UID:
338945
Concept ID:
C1852502
Disease or Syndrome
Autosomal dominant craniometaphyseal dysplasia (designated AD-CMD in this review) is characterized by progressive diffuse hyperostosis of cranial bones evident clinically as wide nasal bridge, paranasal bossing, widely spaced eyes with an increase in bizygomatic width, and prominent mandible. Development of dentition may be delayed and teeth may fail to erupt as a result of hyperostosis and sclerosis of alveolar bone. Progressive thickening of craniofacial bones continues throughout life, often resulting in narrowing of the cranial foramina, including the foramen magnum. If untreated, compression of cranial nerves can lead to disabling conditions such as facial palsy, blindness, or deafness (conductive and/or sensorineural hearing loss). In individuals with typical uncomplicated AD-CMD life expectancy is normal; in those with severe AD-CMD life expectancy can be reduced as a result of compression of the foramen magnum.
Autosomal recessive Kenny-Caffey syndrome
MedGen UID:
340923
Concept ID:
C1855648
Disease or Syndrome
A rare, primary bone dysplasia characterized by prenatal and postnatal growth retardation, short stature, cortical thickening and medullary stenosis of the long bones, absent diploic space in the skull bones, hypocalcemia due to the hypoparathyroidism, small hands and feet, delayed mental and motor development, intellectual disability, dental anomalies, and dysmorphic features, including prominent forehead, small deep-set eyes, beaked nose, and micrognathia.
Autosomal dominant Robinow syndrome 2
MedGen UID:
897039
Concept ID:
C4225363
Disease or Syndrome
Autosomal dominant Robinow syndrome (ADRS) is characterized by skeletal findings (short stature, mesomelic limb shortening predominantly of the upper limbs, and brachydactyly), genital abnormalities (in males: micropenis / webbed penis, hypoplastic scrotum, cryptorchidism; in females: hypoplastic clitoris and labia majora), dysmorphic facial features (widely spaced and prominent eyes, frontal bossing, anteverted nares, midface retrusion), dental abnormalities (including malocclusion, crowding, hypodontia, late eruption of permanent teeth), bilobed tongue, and occasional prenatal macrocephaly that persists postnatally. Less common findings include renal anomalies, radial head dislocation, vertebral abnormalities such as hemivertebrae and scoliosis, nail dysplasia, cardiac defects, cleft lip/palate, and (rarely) cognitive delay. When present, cardiac defects are a major cause of morbidity and mortality. A variant of Robinow syndrome, associated with osteosclerosis and caused by a heterozygous pathogenic variant in DVL1, is characterized by normal stature, persistent macrocephaly, increased bone mineral density with skull osteosclerosis, and hearing loss, in addition to the typical features described above.
Tumoral calcinosis, hyperphosphatemic, familial, 3
MedGen UID:
1638917
Concept ID:
C4693864
Disease or Syndrome
Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare autosomal recessive metabolic disorder characterized by the progressive deposition of basic calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone (Chefetz et al., 2005). The biochemical hallmark of tumoral calcinosis is hyperphosphatemia caused by increased renal absorption of phosphate due to loss-of-function mutations in the FGF23 (605380) or GALNT3 (601756) gene. The term 'hyperostosis-hyperphosphatemia syndrome' (HHS) is sometimes used when the disorder is characterized by involvement of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis. Although some have distinguished HHS from FTC by the presence of bone involvement and the absence of skin involvement (Frishberg et al., 2005), Ichikawa et al. (2010) concluded that the 2 entities represent a continuous spectrum of the same disease, best described as familial hyperphosphatemic tumoral calcinosis. HFTC is considered to be the clinical converse of autosomal dominant hypophosphatemic rickets (ADHR; 193100), an allelic disorder caused by gain-of-function mutations in the FGF23 gene and associated with hypophosphatemia and decreased renal phosphate absorption (Chefetz et al., 2005; Ichikawa et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of HFTC, see 211900.

Recent clinical studies

Etiology

Herman PI, Marji FP, Anstadt EE, Dvoracek LA, Goldstein JA, Pollack IF, Losee JE
Cleft Palate Craniofac J 2021 Jan;58(1):126-130. Epub 2020 Aug 6 doi: 10.1177/1055665620946573. PMID: 32757781
Dlouhy BJ, Menezes AH
J Neurosurg Pediatr 2011 Apr;7(4):369-74. doi: 10.3171/2011.1.PEDS10353. PMID: 21456907
Curé JK, Key LL, Goltra DD, VanTassel P
AJNR Am J Neuroradiol 2000 Jun-Jul;21(6):1110-5. PMID: 10871023Free PMC Article
Sinow JD, Gruss JS, Roberts TS, Clarren SK, Graham CB, Mouradian W
Cleft Palate Craniofac J 1996 Jul;33(4):284-90. doi: 10.1597/1545-1569_1996_033_0284_iaerof_2.3.co_2. PMID: 8827383
Kaplan SB, Kemp SS, Oh KS
Radiol Clin North Am 1991 Mar;29(2):195-218. PMID: 1998047

Diagnosis

Yao A, Taub JS, Gault AT, Naidich TP, Taub PJ
J Craniofac Surg 2019 Jan;30(1):e65-e75. doi: 10.1097/SCS.0000000000004991. PMID: 30516566
Stella I, Vinchon M, Guerreschi P, De Berranger E, Bouacha I
Childs Nerv Syst 2017 Dec;33(12):2181-2186. Epub 2017 Jul 31 doi: 10.1007/s00381-017-3553-4. PMID: 28762040
Klisch J, Spreer J, Bötefür I, Gellrich NC, Adler CP, Zentner J, Schumacher M
Pediatr Neurosurg 2002 Mar;36(3):128-32. doi: 10.1159/000048367. PMID: 11919446
Curé JK, Key LL, Goltra DD, VanTassel P
AJNR Am J Neuroradiol 2000 Jun-Jul;21(6):1110-5. PMID: 10871023Free PMC Article
Kaplan SB, Kemp SS, Oh KS
Radiol Clin North Am 1991 Mar;29(2):195-218. PMID: 1998047

Therapy

Key LL Jr, Ries WL, Glasscock H, Rodriguiz R, Jaffe H
Int J Tissue React 1992;14(6):295-8. PMID: 1339119

Prognosis

Stella I, Vinchon M, Guerreschi P, De Berranger E, Bouacha I
Childs Nerv Syst 2017 Dec;33(12):2181-2186. Epub 2017 Jul 31 doi: 10.1007/s00381-017-3553-4. PMID: 28762040
Sinow JD, Gruss JS, Roberts TS, Clarren SK, Graham CB, Mouradian W
Cleft Palate Craniofac J 1996 Jul;33(4):284-90. doi: 10.1597/1545-1569_1996_033_0284_iaerof_2.3.co_2. PMID: 8827383
Kaplan SB, Kemp SS, Oh KS
Radiol Clin North Am 1991 Mar;29(2):195-218. PMID: 1998047

Clinical prediction guides

Stella I, Vinchon M, Guerreschi P, De Berranger E, Bouacha I
Childs Nerv Syst 2017 Dec;33(12):2181-2186. Epub 2017 Jul 31 doi: 10.1007/s00381-017-3553-4. PMID: 28762040
Curé JK, Key LL, Goltra DD, VanTassel P
AJNR Am J Neuroradiol 2000 Jun-Jul;21(6):1110-5. PMID: 10871023Free PMC Article
Sinow JD, Gruss JS, Roberts TS, Clarren SK, Graham CB, Mouradian W
Cleft Palate Craniofac J 1996 Jul;33(4):284-90. doi: 10.1597/1545-1569_1996_033_0284_iaerof_2.3.co_2. PMID: 8827383
Kaplan SB, Kemp SS, Oh KS
Radiol Clin North Am 1991 Mar;29(2):195-218. PMID: 1998047
Lehman RA, Reeves JD, Wilson WB, Wesenberg RL
Ann Neurol 1977 Nov;2(5):378-84. doi: 10.1002/ana.410020506. PMID: 617576

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