Craniofacial anomalies

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and keywords: facial anomalies, CFA, facial dysmorphism

Craniofacial anomalies are a group of deformities of the head and face that are present at birth.

• Cleft lip and palate a separation in the lip and the palate
• Craniosynostosis – premature closure of the soft spots in an infant’s skull
• Hemifacial microsomia – a condition in which the tissues on one side of the face are underdeveloped
• Vascular malformation – an abnormal growth composed of blood vessels
• Hemangioma – a benign tumor that causes a red birthmark
• Deformational (or positional) plagiocephaly – a misshapen (asymmetrical) shape of the head (cranium) from repeated pressure to the same area of the head. Plagiocephaly literally means “oblique head” (from the Greek “plagio” for oblique and “cephale” for head).

• Coffin Lowry Syndrome
• Craniosynostosis
• Crouzon Syndrome (Craniofacial Dysostosis)
• Apert Syndrome
• Fibrous Dysplasia
• Hemifacial Microsomia
• Microtia
• Pfeiffer Syndrome
• Holoprosencephaly
• Holoprosencephaly (HPE)
• Noonan Syndrome
• Pierre Robin Sequence
• Positional Plagiocephaly
• Flattened Head
• Sotos Syndrome
• Treacher Collins Syndrome

1q terminal deletion Aarskog-Scott syndrome Al Gazali Aziz Salem syndrome Barber-Say syndrome Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia Chromosome 22 Ring Chromosome 5, monosomy 5q35 Congenital rubella syndrome Congenital syphilis Cri du chat syndrome DiGeorge syndrome Fetal alcohol syndrome Frints — De Smet — Fabry — Fryns syndrome Gloomy face syndrome Laurence-Moon-Biedl syndrome Microphthalmia syndromic, type 9 Multiple joint dislocations — metaphyseal dysplasia Noonan syndrome Pfeiffer syndrome Type 2 Polysyndactyly — cardiac malformation Riddle syndrome Turner syndrome Valproic acid antenatal infection Vitiligo mental retardation facial dysmorphism uremia Williams Syndrome Young-Simpson syndrome

• Congenital
• Folate deficiency

In the United States, craniosynostosis occurs in about 1 in every 2000 births.

The disorder is more common in boys than in girls.

Surgery.