Acro-cardio-facial syndrome

Orphanet Journal of Rare Diseases

Volumn 5, Issue 1, 2010, Pages

  Digilio, Maria Cristina ^a   Dallapiccola, Bruno ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN P63;

ACRO CARDIO FACIAL SYNDROME; AORTA COARCTATION; ARTERIAL TRUNK; AUTOSOMAL RECESSIVE INHERITANCE; BRAIN ATROPHY; CLEFT LIP; CLEFT PALATE; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; CONSANGUINITY; CRYPTORCHISM; DIFFERENTIAL DIAGNOSIS; DIGEORGE SYNDROME; ECHOCARDIOGRAPHY; ECHOGRAPHY; ECTRODACTYLY; EEC SYNDROME; FACE MALFORMATION; FALLOT TETRALOGY; GENE MUTATION; GENETIC COUNSELING; GENITAL MALFORMATION; GROWTH RETARDATION; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYPERTELORISM; HYPOSPADIAS; LIFE EXPECTANCY; LOW BIRTH WEIGHT; LOW SET EAR; MENTAL DEFICIENCY; METACARPOPHALANGEAL JOINT; MICROPENIS; MITRAL VALVE ATRESIA; MULTIFACTORIAL GENETIC DISORDER; MUSCLE HYPOTONIA; NEUROPSYCHOLOGICAL TEST; NUTRITIONAL SUPPORT; ORTHOPEDICS; PHYSIOTHERAPY; PROGNOSIS; RAPP HODGKIN SYNDROME; RECURRENCE RISK; REVIEW; SUBLUXATION; CONGENITAL MALFORMATION; FACE; FEMALE; FOOT MALFORMATION; GENETICS; GENITAL SYSTEM; HAND MALFORMATION; MALE; MULTIPLE MALFORMATION SYNDROME; NEWBORN; PATHOLOGY; SYNDROME;

ABNORMALITIES, MULTIPLE; CLEFT LIP; CLEFT PALATE; CONSANGUINITY; FACE; FEMALE; FOOT DEFORMITIES, CONGENITAL; GENITALIA; HAND DEFORMITIES, CONGENITAL; HEART DEFECTS, CONGENITAL; HUMANS; INFANT, NEWBORN; MALE; MENTAL RETARDATION; SYNDROME;

EID: 77957161002     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-5-25     Document Type: Review

References (14)

1. Ectrodactyly, cleft/lip palate, ventricular septal defect, micropenis and mental retardation in a Brazilian child born to consanguineous parents. A Richieri-Costa LC Orquizas, Rev Brasil Genet 1987 10 787 792
2. An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE). A Giannotti MC Digilio R Mingarelli B Dallapiccola, J Med Genet 1995 32 72 74 10.1136/jmg.32.1.72 7897634
3. Cleft lip/palate, abnormal ears, ectrodactyly, congenital heart defect, and growth retardation: definition of the acro-cardio-facial syndrome. ML Guion-Almeida RM Zechi-Ceide A Richieri-Costa, Clin Dysmorphol 2000 9 269 272 10.1097/00019605-200009040-00007 11045583
4. A new observation of acro-cardio-facial syndrome substantiates interindividual clinical variability. R Mingarelli D Zuccarello MC Digilio B Dallapiccola, Am J Med Genet 2005 136A 84 86 10.1002/ajmg.a.30770 (Pubitemid 40934236)
5. Acro-cardio-facial syndrome associated with neuoepithelial cyst: a case report. O Sivasli EA Ozer A Ozer H Aydinlioglu M Helvaci, Genet Couns 2007 18 247 250 17710878
6. Clinical variability in acro-cardio-facial syndrome. A Kariminejad B Bozorgmehr MA Sedighi Gilani N Almadani MH Kariminejad, Am J Med Genet 2008 146A 1977 1979 10.1002/ajmg.a.32052 18627040
7. Expanding the phenotypic spectrum of acro-cardio-facial syndrme (ACFS): exclusion of p63 mutation. P Tanpaiboon R Sittiwangkul P Dejkhamron M Srikummool W Sripathomsawat P Kantaputra, Am J Med Genet 2009 149A 1749 1753 10.1002/ajmg.a.32737 19606477
8. Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. J Celli P Duijf BCJ Hamel M Barmshad B Kramer AP Smits R Newbury-Ecob RCM Hennekam G van Buggenhout A van Hearingen CG Woods AJ van Essen R de Waal G Vriend DA Haber A Yang F McKeon HG Brunner H van Bokhoven, Cell 1999 99 143 153 10.1016/S0092-8674(00)81646-3 10535733
9. EEC syndrome: report on 20 new patients, clinical and genetic considerations. ESO Rodini A Richieri-Costa, Am J Med Genet 1990 37 42 10.1002/ajmg.1320370112 2240042
10. Anhidrotic ectodermal dysplasia: autosomal dominant inheritance with palate and lip anomalies. RS Rapp WE Hodgkin, J Med Genet 1968 5 269 272 10.1136/jmg.5.4.269 5713637
11. Ectodermal dysplasia. D Rosselli R Giulienetti, Br J Plast Surg 1961 14 190 240 10.1016/S0007-1226(61)80036-2 14494246
12. Ectodermal dysplasia, mental retardation, cleft lip/palate and other anomalies in three sibs. P Bowen HB Amstrong, Clin Genet 1976 9 35 42 10.1111/j.1399-0004.1976.tb01547.x 174848
13. A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with growth failure, lip/palate cleft(s), and urogenital anomalies. G Malpuech F Demeocq JB Palcoux, Am J Med Genet 1983 16 475 480 10.1002/ajmg.1320160405 6660246
14. The Gardner-Silengo-Wachtel or genito-palato-cardiac syndrome: male pseudoermaphroditism with micrognathia, cleft palate, and conotruncal cardiac defect. F Greenberg MV Gresik RJ Carpenter SW Law LP Hoffman DH Ledbetter, Am J Med Genet 1987 26 59 64 10.1002/ajmg.1320260111 3812578