Carpenter syndrome

Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders.



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Narrow down the case reports



Total: 24 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(58.0%)		 1642806
 Familial occurrence of Summitt syndrome or a variant example of Carpenter syndrome?
Pierquin G, Seligmann R, Van Regemorter N.
Genet Couns. 1992;3(2):101-5.
Brachydactyly Narrow maxilla Depressed nasal bridge
Acrocephalosyndactylia Child Child, Preschool Females Follow-Up Studies Homo sapiens Infant Infant, Newborn Male Obesity Syndrome
2
(57.8%)		 20358613
 RAB23 mutation in a large family from Comoros Islands with Carpenter syndrome.
Alessandri JL, Dagoneau N, Laville JM, Baruteau J, Hebert JC, Cormier-Daire V.
Am J Med Genet A. 2010;152A(4):982-6.
Brachydactyly Cloverleaf skull Broad thumb
RAB23
c|DUP|86|A| rs121908171
Base Sequence Child Child, Preschool Chromosome Segregation Comoros DNA Mutational Analysis Family Females Haplotypes Homo sapiens Infant Infant, Newborn Male Molecular Sequence Data Mutation Pregnancy Syndrome rab GTP-Binding Proteins
3
(51.6%)		 9689991
 Carpenter syndrome: report of two siblings.
Islek I, Kucukoduk S, Incesu L, Selcuk MB, Aygun D.
Clin Dysmorphol. 1998;7(3):185-9.
Cryptorchidism Short finger
Central Nervous System Child Congenital Foot Deformity Congenital Hand Deformities Facies Homo sapiens Intelligence Male Nuclear Family Obesity Syndrome
3
(51.6%)		 8352858
 Cerebral malformations in Carpenter syndrome.
Taravath S, Tonsgard JH.
Pediatr Neurol. 1993;9(3):230-4.
Syndactyly Short finger
Acrocephalosyndactylia Brain Cerebellum Cerebral Ventricles Child, Preschool Follow-Up Studies Homo sapiens Infant Intellectual Disability Magnetic Resonance Imaging Male Neurologic Examination Syndrome X-Ray Computed Tomography
5
(50.0%)		 21326280
 Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.
Hurst JA, Jenkins D, Vasudevan PC, Kirchhoff M, Skovby F, Rieubland C, Gallati S, Rittinger O, Kroisel PM, Johnson D, Biesecker LG, Wilkie AO.
Eur J Hum Genet. 2011;19(7):757-62.
Trigonocephaly Polydactyly Metopic synostosis
GLI3
Acrocephalosyndactylia Child Child, Preschool Craniosynostosis Females Heterozygote Homo sapiens Infant Infant, Newborn Kruppel-Like Transcription Factors Male Mutation Nerve Tissue Proteins Phenotype Zinc Finger Protein Gli3
6
(48.8%)		 19165041
 Carpenter syndrome.
Hidestrand P, Vasconez H, Cottrill C.
J Craniofac Surg. 2009;20(1):254-6.
Brachycephaly Syndactyly
PROCR
Acrocephalosyndactylia Adult Aortic Valve Stenosis Blindness Females Follow-Up Studies Homo sapiens Optic Atrophy Syndrome Ventricular Septal Defects
7
(47.6%)		 28694400
 [Co-occurrence of Carpenter syndrome and double outlet right ventricle].
Guvenc O, Cimen D, Arslan D, Guler .
Turk Kardiyol Dern Ars. 2017;45(5):454-457.
Facial asymmetry Syndactyly
Acrocephalosyndactylia Child Females Heart Ventricle Homo sapiens
8
(35.3%)		 24458945
 Prenatal diagnosis of Carpenter syndrome: looking beyond craniosynostosis and polysyndactyly.
Victorine AS, Weida J, Hines KA, Robinson B, Torres-Martinez W, Weaver DD.
Am J Med Genet A. 2014;164A(3):820-3.
Ovarian cyst Brachydactyly
rs121908171
Acrocephalosyndactylia Adult Craniosynostosis Females Homo sapiens Phenotype Pregnancy Syndactyly Ultrasonography, Prenatal
9
(34.6%)		 1642807
 Apert syndrome with partial preaxial polydactyly.
Lefort G, Sarda P, Humeau C, Rieu D.
Genet Couns. 1992;3(2):107-9.
Abnormality of the hand Polydactyly
Acrocephalosyndactylia Craniosynostosis Females Genetic Counseling Homo sapiens Infant Intellectual Disability Phenotype
10
(31.0%)		 23706836
 Caesarean section in a parturient with Carpenter syndrome and corrected Tetralogy of Fallot.
Bhardwaj M, Grange C.
Int J Obstet Anesth. 2013;22(3):251-4.
Syndactyly
Acrocephalosyndactylia Anesthesia, Inhalation Anesthesia, Obstetrical Apgar Score Echocardiography Females Homo sapiens Monitoring, Intraoperative Obesity Pain, Postoperative Patient Care Planning Patient Care Team Postoperative Care Pregnancy Pregnancy Outcome Pulmonary Valve Insufficiency Tetralogy of Fallot Young Adult
        

Phenotype(s) retrieved from Orphanet

    Total: 26

HPO ID Term Frequency
HP:0001156 Brachydactyly Obligate (100%)
HP:0001770 Toe syndactyly Obligate (100%)
HP:0006101 Finger syndactyly Obligate (100%)
HP:0000028 Cryptorchidism Very frequent (99-80%)
HP:0000263 Oxycephaly Very frequent (99-80%)
HP:0000929 Abnormal skull morphology Very frequent (99-80%)
HP:0001159 Syndactyly Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001363 Craniosynostosis Very frequent (99-80%)
HP:0001513 Obesity Very frequent (99-80%)
HP:0003241 External genital hypoplasia Very frequent (99-80%)
HP:0010442 Polydactyly Very frequent (99-80%)
HP:0000262 Turricephaly Frequent (79-30%)
HP:0000481 Abnormal cornea morphology Frequent (79-30%)
HP:0001162 Postaxial hand polydactyly Frequent (79-30%)
HP:0001841 Preaxial foot polydactyly Frequent (79-30%)
HP:0002676 Cloverleaf skull Frequent (79-30%)
HP:0002857 Genu valgum Frequent (79-30%)
HP:0011304 Broad thumb Frequent (79-30%)
HP:0012243 Abnormal reproductive system morphology Frequent (79-30%)
HP:0030680 Abnormality of cardiovascular system morphology Frequent (79-30%)
HP:0001537 Umbilical hernia Occasional (29-5%)
HP:0001643 Patent ductus arteriosus Occasional (29-5%)
HP:0001748 Polysplenia Occasional (29-5%)
HP:0001762 Talipes equinovarus Occasional (29-5%)
HP:0002751 Kyphoscoliosis Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 19

HPO ID Term # of case reports
HP:0001159 Syndactyly 6
HP:0001513 Obesity 5
HP:0010442 Polydactyly 4
HP:0001537 Umbilical hernia 3
HP:0100258 Preaxial polydactyly 3
HP:0000028 Cryptorchidism 2
HP:0000138 Ovarian cyst 1
HP:0000238 Hydrocephalus 1
HP:0000476 Cystic hygroma 1
HP:0000668 Hypodontia 1
HP:0000819 Diabetes mellitus 1
HP:0000821 Hypothyroidism 1
HP:0001138 Optic neuropathy 1
HP:0001156 Brachydactyly 1
HP:0001289 Confusion 1
HP:0001622 Premature birth 1
HP:0009381 Short finger 1
HP:0011330 Metopic synostosis 1
HP:0030853 Heterotaxy 1


Causative gene(s) retrieved from Orphanet

    Total: 2

Gene Symbol Gene Name Entrez Gene ID
MEGF8 multiple EGF like domains 8 1954
RAB23 RAB23, member RAS oncogene family 51715