Canadian Medical Guide > Diseases > Musculoskeletal Diseases > Musculoskeletal Abnormalities > Craniofacial Abnormalities Terms and Definitions




Craniofacial Abnormalities

Medical Definition: Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.
Guide Notes: GEN or unspecified; prefer specifics; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES; DF: CRANIOFACIAL ABNORM
Previously Indexed: Facial Bones (1966-1996),Skull/abnormalities (1966-1996)
Craniofacial Abnormalities Categories.
Canadian Medical Guide Definition Holoprosencephaly - Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe MENTAL RETARDATION; CLEFT LIP; CLEFT PALATE; SEIZURES; and microcephaly. Semilobar holoprosencepaly is characterized by hypotelorism, microphthalmia, coloboma, nasal malformations, and variable degrees of mental retardation. Lobar holoprosencephaly is associated with mild (or absent) facial malformations and intellectual abilities that range from mild mental retardation to normal. Holoprosencephlay is associated with CHROMOSOME ABNORMALITIES.
Canadian Medical Guide Definition LEOPARD Syndrome - A syndrome characterized by Lentigines (LENTIGO); Electrocardiographic conduction abnormalities; Ocular HYPERTELORISM; PULMONARY STENOSIS; Abnormal genitalia; Retardation of growth; and Deafness (HEARING LOSS, SENSORINEURAL). It is caused by mutations of the PTPN11 gene which codes for non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11. The clinical features of LEOPARD syndrome overlap those of NOONAN SYNDROME, also caused by mutations in PTPN11, as well as those of NEUROFIBROMATOSIS 1. The syndrome has also been associated with mutations in the NF1 gene (GENES, NEUROFIBROMATOSIS 1). (J Med Genet 2002 Aug;39(8):571-4)
Canadian Medical Guide Definition Maxillofacial Abnormalities - Congenital structural deformities, malformations, or other abnormalities of the maxilla and face or facial bones.
Canadian Medical Guide Definition Microcephaly - Abnormal smallness of the head, usually associated with mental retardation. (Dorland, 27th ed)
Canadian Medical Guide Definition Noonan Syndrome - A multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of MENTAL RETARDATION. The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. However, Noonan syndrome occurs in both males and females with a normal sex chromosome constitution (46,XX and 46,XY). NS1 is is due to mutations at chromosome location 12q24.1, in PTPN11, a gene encoding the non-receptor type 11 PROTEIN TYROSINE PHOSPHATASE. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 (GENES, NF1) gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).

Craniofacial Abnormalities Medical Definitions and Terms

CANADIAN MEDICAL GUIDE

Thank you for visiting Canadian Medical Guide .com





Wildlife On Video »

Canadian Medical Guide Canada's Great Outdoors
Tour Canadian Rockies »
Book Banff »
Book Jasper »
Maligne Lake Boat Cruise »
Gondola Banff »
Hike Jasper »
Jasper Columbia Icefield »