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Cole-Carpenter syndrome

MedGen UID:
350614
•Concept ID:
C1862178
•
Disease or Syndrome
Synonyms: Cole Carpenter syndrome; Cole-Carpenter Syndrome
SNOMED CT: Cole-Carpenter dysplasia (389199001); Bone fragility, craniosynostosis, proptosis, hydrocephalus syndrome (389199001); Cole Carpenter syndrome (389199001)
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:0016085
OMIM® Phenotypic series: PS112240
Orphanet: ORPHA2050

Definition

An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia). [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCole-Carpenter syndrome
Follow this link to review classifications for Cole-Carpenter syndrome in Orphanet.

Recent clinical studies

Etiology

Osteopenia, abnormal dentition, hydrops fetalis and communicating hydrocephalus.
MacDermot KD, Buckley B, Van Someren V
Clin Genet 1995 Oct;48(4):217-20. doi: 10.1111/j.1399-0004.1995.tb04092.x. PMID: 8591675

Diagnosis

Japanese patient with Cole-carpenter syndrome with compound heterozygous variants of SEC24D.
Takeyari S, Kubota T, Miyata K, Yamamoto K, Nakayama H, Yamamoto K, Ohata Y, Kitaoka T, Yanagi K, Kaname T, Ozono K
Am J Med Genet A 2018 Dec;176(12):2882-2886. Epub 2018 Nov 21 doi: 10.1002/ajmg.a.40643. PMID: 30462379
Cole-Carpenter syndrome in a patient from Thailand.
Porntaveetus T, Theerapanon T, Srichomthong C, Shotelersuk V
Am J Med Genet A 2018 Aug;176(8):1706-1710. Epub 2018 Jul 31 doi: 10.1002/ajmg.a.40358. PMID: 30063094
CRTAP mutation in a patient with Cole-Carpenter syndrome.
Balasubramanian M, Pollitt RC, Chandler KE, Mughal MZ, Parker MJ, Dalton A, Arundel P, Offiah AC, Bishop NJ
Am J Med Genet A 2015 Mar;167A(3):587-91. Epub 2015 Jan 21 doi: 10.1002/ajmg.a.36916. PMID: 25604815
Septo-optic dysplasia, subglottic stenosis and skeletal abnormalities: a case report.
Wakeling EL, Dattani MT, Bloch-Zupan A, Winter RM, Holder SE
Clin Dysmorphol 2003 Apr;12(2):105-7. doi: 10.1097/00019605-200304000-00006. PMID: 12868472
New case of Cole-Carpenter syndrome.
Amor DJ, Savarirayan R, Schneider AS, Bankier A
Am J Med Genet 2000 Jun 5;92(4):273-7. doi: 10.1002/(sici)1096-8628(20000605)92:4<273::aid-ajmg10>3.0.co;2-t. PMID: 10842295

Clinical prediction guides

Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants.
Cotrina-Vinagre FJ, Rodríguez-García ME, Martín-Hernández E, Durán-Aparicio C, Merino-López A, Medina-Benítez E, Martínez-Azorín F
Mol Genet Metab 2021 Jun;133(2):201-210. Epub 2021 Feb 27 doi: 10.1016/j.ymgme.2021.02.007. PMID: 33707149

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