Biomaterial Database

[Oculoauriculovertebral syndrome (Goldenhar syndrome) associated with Hirschsprung disease]. 1987

J Lankosz-Lauterbach, and M Sanak

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D008342	Mandibulofacial Dysostosis	A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by a slant of the palpebral fissures, COLOBOMA of the lower lid, MICROGNATHIA and hypoplasia of the ZYGOMATIC ARCHES, and CONGENITAL MICROTIA. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)	MFD1 Mandibulofacial Dysostosis,Treacher Collins Syndrome,Franceschetti-Zwahlen-Klein Syndrome,Mandibulofacial Dysostosis (MFD1),Treacher Collins-Franceschetti Syndrome,Dysostoses, MFD1 Mandibulofacial,Dysostoses, Mandibulofacial,Dysostoses, Mandibulofacial (MFD1),Dysostosis, MFD1 Mandibulofacial,Dysostosis, Mandibulofacial,Dysostosis, Mandibulofacial (MFD1),Franceschetti Zwahlen Klein Syndrome,Franceschetti-Zwahlen-Klein Syndromes,MFD1 Mandibulofacial Dysostoses,Mandibulofacial Dysostoses,Mandibulofacial Dysostoses (MFD1),Mandibulofacial Dysostoses, MFD1,Mandibulofacial Dysostosis, MFD1,Syndrome, Franceschetti-Zwahlen-Klein,Syndrome, Treacher Collins,Syndrome, Treacher Collins-Franceschetti,Syndromes, Franceschetti-Zwahlen-Klein,Syndromes, Treacher Collins-Franceschetti,Treacher Collins Franceschetti Syndrome,Treacher Collins-Franceschetti Syndromes
D005260	Female		Females
D006053	Goldenhar Syndrome	Mandibulofacial dysostosis with congenital eyelid dermoids.	Hemifacial Microsomia,Oculoauriculovertebral Syndrome,Craniofacial Microsomia,Facioauriculovertebral Dysplasia,Facioauriculovertebral Sequence,First and Second Branchial Arch Syndrome,First and Second Pharyngeal Arch Syndromes,Goldenhar Disease,Goldenhar Syndrome with Ipsilateral Radial Defect,Goldenhar-Gorlin Syndrome,Hemifacial Microsomia with Radial Defects,Lateral Facial Dysplasia,Microsomia Hemifacial Radial Defects,Moeschler Clarren Syndrome,OAVS with Radial Defect,Oculoauriculovertebral Dysplasia,Oculoauriculovertebral Spectrum,Oculoauriculovertebral Spectrum with Radial Defect,Oral-Mandibular-Auricular Syndrome,Otomandibular Dysostosis,Craniofacial Microsomias,Dysostosis, Otomandibular,Dysplasia, Facioauriculovertebral,Dysplasia, Lateral Facial,Dysplasia, Oculoauriculovertebral,Dysplasias, Facioauriculovertebral,Dysplasias, Lateral Facial,Dysplasias, Oculoauriculovertebral,Facial Dysplasia, Lateral,Facial Dysplasias, Lateral,Facioauriculovertebral Dysplasias,Facioauriculovertebral Sequences,Goldenhar Gorlin Syndrome,Goldenhar-Gorlin Syndromes,Lateral Facial Dysplasias,Microsomia, Craniofacial,Microsomias, Craniofacial,Oculoauriculovertebral Dysplasias,Oculoauriculovertebral Spectrums,Oral Mandibular Auricular Syndrome,Oral-Mandibular-Auricular Syndromes
D006627	Hirschsprung Disease	Congenital MEGACOLON resulting from the absence of ganglion cells (aganglionosis) in a distal segment of the LARGE INTESTINE. The aganglionic segment is permanently contracted thus causing dilatation proximal to it. In most cases, the aganglionic segment is within the RECTUM and SIGMOID COLON.	Aganglionosis, Colonic,Colonic Aganglionosis,Megacolon, Congenital,Aganglionic Megacolon,Aganglionosis, Rectosigmoid Colon,Aganglionosis, Total Colonic,Congenital Intestinal Aganglionosis,Congenital Megacolon,Hirschsprung's Disease,Megacolon, Aganglionic,Rectosigmoid Aganglionosis,Total Colonic Aganglionosis,Aganglionosis, Rectosigmoid,Disease, Hirschsprung,Disease, Hirschsprung's,Hirschsprungs Disease,Rectosigmoid Colon Aganglionosis
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015	Abnormalities, Multiple	Congenital abnormalities that affect more than one organ or body structure.	Multiple Abnormalities