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Craniometaphyseal dysplasia(CRMDD)

MedGen UID:
82702
•Concept ID:
C0265292
•
Congenital Abnormality
Synonyms: Craniometadiaphyseal dysplasia; Genetic craniotubular bone dysplasias and hyperostoses; Schwartz-Lelek syndrome
SNOMED CT: Craniometadiaphyseal dysplasia (278833002); Craniometaphyseal dysplasia (36601008)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0015465
OMIM®: 269300
OMIM® Phenotypic series: PS123000
Orphanet: ORPHA1522

Definition

Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCraniometaphyseal dysplasia

Recent clinical studies

Etiology

Transmastoid Facial Nerve Decompression for Craniometaphyseal Dysplasia.
Lee AS, Teh BM, Alexiades G
Otol Neurotol 2023 Dec 1;44(10):1082-1085. Epub 2023 Aug 26 doi: 10.1097/MAO.0000000000004010. PMID: 37939359
Restriction of Dietary Phosphate Ameliorates Skeletal Abnormalities in a Mouse Model for Craniometaphyseal Dysplasia.
Fujii Y, Kozak E, Dutra E, Varadi A, Reichenberger EJ, Chen IP
J Bone Miner Res 2020 Oct;35(10):2070-2081. Epub 2020 Jul 12 doi: 10.1002/jbmr.4110. PMID: 33463757Free PMC Article
The Erlenmeyer flask bone deformity in the skeletal dysplasias.
Faden MA, Krakow D, Ezgu F, Rimoin DL, Lachman RS
Am J Med Genet A 2009 Jun;149A(6):1334-45. doi: 10.1002/ajmg.a.32253. PMID: 19444897Free PMC Article
Sclerosing bone dysplasias--a target-site approach.
Greenspan A
Skeletal Radiol 1991;20(8):561-83. doi: 10.1007/BF01106087. PMID: 1776023
A review of the osteopetroses.
Beighton P, Horan F, Hamersma H
Postgrad Med J 1977 Aug;53(622):507-16. doi: 10.1136/pgmj.53.622.507. PMID: 335376Free PMC Article

Diagnosis

Transmastoid Facial Nerve Decompression for Craniometaphyseal Dysplasia.
Lee AS, Teh BM, Alexiades G
Otol Neurotol 2023 Dec 1;44(10):1082-1085. Epub 2023 Aug 26 doi: 10.1097/MAO.0000000000004010. PMID: 37939359
The kynurenine pathway in major depressive disorder under different disease states: A systematic review and meta-analysis.
Ou W, Chen Y, Ju Y, Ma M, Qin Y, Bi Y, Liao M, Liu B, Liu J, Zhang Y, Li L
J Affect Disord 2023 Oct 15;339:624-632. Epub 2023 Jul 17 doi: 10.1016/j.jad.2023.07.078. PMID: 37467793
Chiari type I malformation caused by craniometaphyseal dysplasia.
Tanaka M, Arataki S, Sugimoto Y, Takigawa T, Tetsunaga T, Ozaki T
Acta Med Okayama 2013;67(6):385-9. doi: 10.18926/AMO/52012. PMID: 24356723
Craniometaphyseal dysplasia.
Kim YH, Roh DH, Choi BY, Oh SH
Acta Otolaryngol 2005 Jul;125(7):797-800. doi: 10.1080/00016480510028474. PMID: 16012045
A review of the osteopetroses.
Beighton P, Horan F, Hamersma H
Postgrad Med J 1977 Aug;53(622):507-16. doi: 10.1136/pgmj.53.622.507. PMID: 335376Free PMC Article

Therapy

The kynurenine pathway in major depressive disorder under different disease states: A systematic review and meta-analysis.
Ou W, Chen Y, Ju Y, Ma M, Qin Y, Bi Y, Liao M, Liu B, Liu J, Zhang Y, Li L
J Affect Disord 2023 Oct 15;339:624-632. Epub 2023 Jul 17 doi: 10.1016/j.jad.2023.07.078. PMID: 37467793
Restriction of Dietary Phosphate Ameliorates Skeletal Abnormalities in a Mouse Model for Craniometaphyseal Dysplasia.
Fujii Y, Kozak E, Dutra E, Varadi A, Reichenberger EJ, Chen IP
J Bone Miner Res 2020 Oct;35(10):2070-2081. Epub 2020 Jul 12 doi: 10.1002/jbmr.4110. PMID: 33463757Free PMC Article
Dietary phosphate supplement does not rescue skeletal phenotype in a mouse model for craniometaphyseal dysplasia.
Liu Y, Dutra EH, Reichenberger EJ, Chen IP
J Negat Results Biomed 2016 Oct 26;15(1):18. doi: 10.1186/s12952-016-0061-0. PMID: 27784318Free PMC Article
Craniometaphyseal dysplasia: ophthalmic features and management.
Puri P, Chan J
J Pediatr Ophthalmol Strabismus 2003 Jul-Aug;40(4):228-31. doi: 10.3928/0191-3913-20030701-12. PMID: 12908537
Craniometaphyseal and craniodiaphyseal dysplasia, head and neck manifestations and management.
Richards A, Brain C, Dillon MJ, Bailey CM
J Laryngol Otol 1996 Apr;110(4):328-38. doi: 10.1017/s0022215100133560. PMID: 8733453

Prognosis

Novel ANKH mutation in a patient with sporadic craniometaphyseal dysplasia.
Zajac A, Baek SH, Salhab I, Radecki MA, Kim S, Hakonarson H, Nah HD
Am J Med Genet A 2010 Mar;152A(3):770-6. doi: 10.1002/ajmg.a.33317. PMID: 20186813Free PMC Article
Chiari malformation caused by craniometaphyseal dysplasia: case report and review of literature.
Cai C, Zhang Q, Shen C, Sun G, Wang C
Eur J Pediatr Surg 2008 Jun;18(3):198-201. doi: 10.1055/s-2008-1038536. PMID: 18493899
Foramen magnum decompression for cervicomedullary encroachment in craniometaphyseal dysplasia: case report.
Day RA, Park TS, Ojemann JG, Kaufman BA
Neurosurgery 1997 Oct;41(4):960-4. doi: 10.1097/00006123-199710000-00039. PMID: 9316062
Craniometaphyseal and craniodiaphyseal dysplasia, head and neck manifestations and management.
Richards A, Brain C, Dillon MJ, Bailey CM
J Laryngol Otol 1996 Apr;110(4):328-38. doi: 10.1017/s0022215100133560. PMID: 8733453
A review of the osteopetroses.
Beighton P, Horan F, Hamersma H
Postgrad Med J 1977 Aug;53(622):507-16. doi: 10.1136/pgmj.53.622.507. PMID: 335376Free PMC Article

Clinical prediction guides

Restriction of Dietary Phosphate Ameliorates Skeletal Abnormalities in a Mouse Model for Craniometaphyseal Dysplasia.
Fujii Y, Kozak E, Dutra E, Varadi A, Reichenberger EJ, Chen IP
J Bone Miner Res 2020 Oct;35(10):2070-2081. Epub 2020 Jul 12 doi: 10.1002/jbmr.4110. PMID: 33463757Free PMC Article
Cochlear Implantation in Craniometaphyseal Dysplasia.
Huang AE, Adkins WJ, Patel NS
Otol Neurotol 2020 Mar;41(3):e317-e321. doi: 10.1097/MAO.0000000000002504. PMID: 31834875
Craniometaphyseal dysplasia.
Kim YH, Roh DH, Choi BY, Oh SH
Acta Otolaryngol 2005 Jul;125(7):797-800. doi: 10.1080/00016480510028474. PMID: 16012045
Recent developments in the understanding of the pathophysiology of osteopetrosis.
Felix R, Hofstetter W, Cecchini MG
Eur J Endocrinol 1996 Feb;134(2):143-56. doi: 10.1530/eje.0.1340143. PMID: 8630510
Craniometaphyseal dysplasia.
Martin FW
J Laryngol Otol 1977 Feb;91(2):159-69. doi: 10.1017/s002221510008350x. PMID: 839137

Recent systematic reviews

The kynurenine pathway in major depressive disorder under different disease states: A systematic review and meta-analysis.
Ou W, Chen Y, Ju Y, Ma M, Qin Y, Bi Y, Liao M, Liu B, Liu J, Zhang Y, Li L
J Affect Disord 2023 Oct 15;339:624-632. Epub 2023 Jul 17 doi: 10.1016/j.jad.2023.07.078. PMID: 37467793
Molecular, phenotypic aspects and therapeutic horizons of rare genetic bone disorders.
Faruqi T, Dhawan N, Bahl J, Gupta V, Vohra S, Tu K, Abdelmagid SM
Biomed Res Int 2014;2014:670842. Epub 2014 Oct 22 doi: 10.1155/2014/670842. PMID: 25530967Free PMC Article

Supplemental Content

Table of contents

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    • GTR(Clinical)
      Clinical tests in GTR
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      Related records in OMIM
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