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  3. Q00-Q99
  4. Q65-Q79
  5. Other congenital malformations of skull and face bones (Q75)

Other congenital malformations of skull and face bones (Q75)

Clinical Information for Other congenital malformations of skull and face bones (Q75)

Hypertelorism - Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid.

Mandibulofacial Dysostosis - A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid 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)

Craniofacial Dysostosis - Autosomal dominant CRANIOSYNOSTOSIS with shallow ORBITS; EXOPHTHALMOS; and maxillary hypoplasia.

Hypertelorism - Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid.

Facial Asymmetry - Congenital or acquired asymmetry of the face.

Choanal Atresia - A congenital abnormality that is characterized by a blocked CHOANAE, the opening between the nose and the NASOPHARYNX. Blockage can be unilateral or bilateral; bony or membranous.

Hypertelorism - Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid.

Exocrine Pancreatic Insufficiency - A malabsorption condition resulting from greater than 10% reduction in the secretion of pancreatic digestive enzymes (LIPASE; PROTEASES; and AMYLASE) by the EXOCRINE PANCREAS into the DUODENUM. This condition is often associated with CYSTIC FIBROSIS and with chronic PANCREATITIS.

Platybasia - A developmental deformity of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward. (Dorland, 27th ed)

Athetosis - A dyskinesia characterized by an inability to maintain the fingers, toes, tongue, or other body parts in a stable position, resulting in continuous slow, sinusoidal, and flowing involuntary movements. This condition is frequently accompanied by CHOREA, where it is referred to as choreoathetosis. Athetosis may occur as a manifestation of BASAL GANGLIA DISEASES or DRUG TOXICITY. (From Adams et al., Principles of Neurology, 6th ed, p76)

Instructional Notations

Type 1 Excludes Type 1 Excludes
A type 1 excludes note is a pure excludes note. It means "NOT CODED HERE!" An Excludes1 note indicates that the code excluded should never be used at the same time as the code above the Excludes1 note. An Excludes1 is used when two conditions cannot occur together, such as a congenital form versus an acquired form of the same condition.

  • congenital malformation of face NOS Q18
  • congenital malformation syndromes classified to Q87
  • dentofacial anomalies [including malocclusion] M26
  • musculoskeletal deformities of head and face Q67.0 Q67.4
  • skull defects associated with congenital anomalies of brain such as:
  • anencephaly Q00.0
  • encephalocele Q01
  • hydrocephalus Q03
  • microcephaly Q02