Matches in DBpedia 2016-04 for { <http://dbpedia.org/resource/Malpuech_facial_clefting_syndrome> ?p ?o }
- Malpuech_facial_clefting_syndrome abstract "Malpuech facial clefting syndrome, also called Malpuech syndrome or Gypsy type facial clefting syndrome, is a rare congenital syndrome. It is characterized by facial clefting (any type of cleft in the bones and tissues of the face, including a cleft lip and palate), a caudal appendage (a \"human tail\"), growth deficiency, intellectual and developmental disability, and abnormalities of the renal system (kidneys) and the male genitalia. Abnormalities of the heart, and other skeletal malformations may also be present. The syndrome was initially described by Guilliaume Malpuech and associates in 1983. It is thought to be genetically related to Juberg-Hayward syndrome. Malpuech syndrome has also been considered as part of a spectrum of congenital genetic disorders associated with similar facial, urogenital and skeletal anomalies. Termed \"3MC syndrome\", this proposed spectrum includes Malpuech, Michels and Mingarelli-Carnevale (OSA) syndromes. Mutations in the COLLEC11 and MASP1 genes are believed to be a cause of these syndromes. The incidence of Malpuech syndrome is unknown. The pattern of inheritance is autosomal recessive, which means a defective (mutated) gene associated with the syndrome is located on an autosome, and the syndrome occurs when two copies of this defective gene are inherited.".
- Malpuech_facial_clefting_syndrome thumbnail 13900470_3PREOPERATION0.jpg?width=300.
- Malpuech_facial_clefting_syndrome wikiPageID "30542186".
- Malpuech_facial_clefting_syndrome wikiPageLength "25737".
- Malpuech_facial_clefting_syndrome wikiPageOutDegree "147".
- Malpuech_facial_clefting_syndrome wikiPageRevisionID "676378518".
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Adenoidectomy.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Aggression.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Allele.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Amino_acid.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Anatomical_terms_of_location.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Appendage.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Arginine.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Atrial_septal_defect.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Attention_deficit_hyperactivity_disorder.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Autosome.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink C-type_lectin.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink COLLEC11.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Carnevale_syndrome.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Category:Autosomal_recessive_disorders.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Category:Congenital_disorders.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Category:Rare_diseases.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Category:Syndromes.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Chromosome.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Chromosome_2_(human).
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Chromosome_3_(human).
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Chromosome_4_(human).
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Cleft_lip_and_palate.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Coccyx.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Collectin.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Complement_system.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Congenital_disorder.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Consanguinity.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Cryptorchidism.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink DNA_sequencing.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Delayed_milestone.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Developmental_disability.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Dominance_(genetics).
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Ductus_arteriosus.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Dwarfism.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Echolalia.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Embryogenesis.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Excretory_system.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Face.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Facial_cleft.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink File:Chromarms.gif.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Gene.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Gene_mapping.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink General_anaesthesia.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Genetic_carrier.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Glycine.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink HIV.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Hearing_aid.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Hearing_loss.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Heart.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Helix_(ear).
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Homologous_chromosome.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Human_nose.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Hypertelorism.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Hypoplasia.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Hypospadias.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink IGFBP5.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Incidence_(epidemiology).
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Incisor.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Inflammation.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Innate_immune_system.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Insulin-like_growth_factor.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Intellectual_disability.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Juberg-Hayward_syndrome.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Karyotype.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Kidney.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Lambdoid_suture.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Laryngoscopy.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Learning_disability.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Lectin_pathway.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Ligature_(medicine).
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Local_anesthesia.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Locus_(genetics).
- Malpuech_facial_clefting_syndrome wikiPageWikiLink MASP1_(protein).
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Mandible.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Mannan-binding_lectin.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Maxilla.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Medical_diagnosis.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Messenger_RNA.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Michels_syndrome.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Micrognathism.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Micropenis.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Middle_ear.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Missense_mutation.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Mutation.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Neural_crest.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Nonsense_mutation.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Obsessive–compulsive_disorder.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Omphalocele.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Orthodontics.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Otitis_media.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Palate.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Palatine_uvula.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Palpebral_fissure.
- Malpuech_facial_clefting_syndrome wikiPageWikiLink Patent_ductus_arteriosus.