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Craniodiaphyseal dysplasia(CDD)

MedGen UID:
96080
•Concept ID:
C0410539
•
Disease or Syndrome
Synonym: CDD
SNOMED CT: Craniodiaphyseal dysplasia (205506004); CDD - Craniodiaphyseal dysplasia (205506004)
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.
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0009031
OMIM®: 218300
Orphanet: ORPHA1513

Definition

Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCraniodiaphyseal dysplasia
Follow this link to review classifications for Craniodiaphyseal dysplasia in Orphanet.

Professional guidelines

PubMed

Deep Brain Stimulation for Craniocervical Dystonia (Meige Syndrome): A Report of Four Patients and a Literature-Based Analysis of Its Treatment Effects.
Wang X, Zhang C, Wang Y, Liu C, Zhao B, Zhang JG, Hu W, Shao X, Zhang K
Neuromodulation 2016 Dec;19(8):818-823. Epub 2015 Sep 24 doi: 10.1111/ner.12345. PMID: 26399458

Recent clinical studies

Etiology

Long-term follow-up of severe autosomal recessive SP7-related bone disorder.
Gauthier LW, Fontanges E, Chapurlat R, Collet C, Rossi M
Bone 2024 Feb;179:116953. Epub 2023 Oct 31 doi: 10.1016/j.bone.2023.116953. PMID: 37918503
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
Craniotubular dysplasia with severe postnatal growth retardation, mental retardation, ectodermal dysplasia, and loose skin: Lenz-Majewski-like syndrome.
Nishimura G, Harigaya A, Kuwashima M, Kuwashima S
Am J Med Genet 1997 Jul 11;71(1):87-92. PMID: 9215775
Intracranial and extracranial reduction osteoplasty for craniodiaphyseal dysplasia.
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
Sclerosing bone dysplasias--a target-site approach.
Greenspan A
Skeletal Radiol 1991;20(8):561-83. doi: 10.1007/BF01106087. PMID: 1776023

Diagnosis

Miscellaneous Bone Disorders.
Mughal MZ, Padidela R
Endocr Dev 2015;28:226-246. Epub 2015 Jun 12 doi: 10.1159/000381048. PMID: 26138845
A boy with severe craniodiaphyseal dysplasia and apparently normal mother.
Bieganski T, Baranska D, Miastkowska I, Kobielski A, Gorska-Chrzastek M, Kozlowski K
Am J Med Genet A 2007 Oct 15;143A(20):2435-43. doi: 10.1002/ajmg.a.31938. PMID: 17853455
Macrocephaly and sclerosis of the tubular bones in an isolated patient: a mild case of craniodiaphyseal dysplasia?
Janssens K, Thompson E, Vanhoenacker F, Savarirayan R, Morris L, Dobbie A, Van Hul W
Clin Dysmorphol 2003 Oct;12(4):245-50. doi: 10.1097/00019605-200310000-00007. PMID: 14564212
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
Craniodiaphyseal dysplasia.
Brueton LA, Winter RM
J Med Genet 1990 Nov;27(11):701-6. doi: 10.1136/jmg.27.11.701. PMID: 2277386Free PMC Article

Therapy

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
Craniodiaphyseal dysplasia; another cause of difficult intubation.
Appleby JN, Bingham RM
Paediatr Anaesth 1996;6(3):225-9. doi: 10.1111/j.1460-9592.1996.tb00433.x. PMID: 8732615

Prognosis

Long-term follow-up of severe autosomal recessive SP7-related bone disorder.
Gauthier LW, Fontanges E, Chapurlat R, Collet C, Rossi M
Bone 2024 Feb;179:116953. Epub 2023 Oct 31 doi: 10.1016/j.bone.2023.116953. PMID: 37918503
Deep Brain Stimulation for Craniocervical Dystonia (Meige Syndrome): A Report of Four Patients and a Literature-Based Analysis of Its Treatment Effects.
Wang X, Zhang C, Wang Y, Liu C, Zhao B, Zhang JG, Hu W, Shao X, Zhang K
Neuromodulation 2016 Dec;19(8):818-823. Epub 2015 Sep 24 doi: 10.1111/ner.12345. PMID: 26399458
Intracranial and extracranial reduction osteoplasty for craniodiaphyseal dysplasia.
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
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
Management and outcome of two pregnancies in a woman with craniodiaphyseal dysplasia.
Thurnau GR, Stein SA, Schaefer GB, Morgan MA, Wall JF, Rennert OM
Am J Perinatol 1991 Jan;8(1):56-61. doi: 10.1055/s-2007-999343. PMID: 1987972

Clinical prediction guides

Deep Brain Stimulation for Craniocervical Dystonia (Meige Syndrome): A Report of Four Patients and a Literature-Based Analysis of Its Treatment Effects.
Wang X, Zhang C, Wang Y, Liu C, Zhao B, Zhang JG, Hu W, Shao X, Zhang K
Neuromodulation 2016 Dec;19(8):818-823. Epub 2015 Sep 24 doi: 10.1111/ner.12345. PMID: 26399458
Intracranial and extracranial reduction osteoplasty for craniodiaphyseal dysplasia.
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
The skull in metaphyseal chondrodysplasia type Jansen.
Holthusen W, Holt JF, Stoeckenius M
Pediatr Radiol 1975 Jun 13;3(3):137-44. doi: 10.1007/BF01006898. PMID: 1233427

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