American Speech-Language-Hearing Association

Communication Facts: Special Populations: Craniofacial Syndromes – 2008 Edition

Craniofacial anomalies are anatomical deviations that can affect the oral and facial structures, the cranium, or both. They are often complex and may occur as a feature of a particular syndrome (1). This Communication Facts addresses select craniofacial syndromes that include communication disorders as part of the syndromic pattern.

Orofacial Clefts

A cleft is an elongated opening, especially one resulting from the failure of parts to fuse or merge early in prenatal development (2).


  • Cleft lip and cleft palate are two of the most frequent congenital malformations. Many epidemiologic studies have been conducted worldwide, often producing inconsistent results (3, 4).
  • The majority of orofacial clefts are of multifactorial origin and results from the interaction of genetic and environmental factors (5, 6).

Communication Manifestations

  • Cleft palate and velopharyngeal dysfunction cause communication disorders in many different ways (articulation, resonance, voice, and language) (7).
  • Children born with palatal clefts are at high risk for speech/language delay and speech problems related to palatal insufficiency (8).
    Individuals with cleft palate, including those with adequate velopharyngeal function, are at high risk for disordered lingual articulation (9).
  • Language abilities, particularly expressive language, may be delayed in children with cleft palate (1).
  • Babbling patterns of children with cleft palate reveal delay and differences from the normal pattern of development. Deviant phonetic patterns may persist in the speech of older children with cleft palate (1).
  • Middle ear disease is present at birth in most infants with cleft palate, but there is probably no increased risk when only cleft lip is present (2).
  • Otitis media with effusion is a common finding in children with cleft palate (10).

Apert Syndrome (Acrocephalosyndactyly Type 1)

Acrocephalosyndactyly Type 1, or Apert syndrome, is a rare autosomal malformation syndrome characterized by craniosynostosis (premature fusion of the skull bones), syndactyly (the joining of two or more fingers or toes) and a variety of abnormalities of the skin, skeleton, brain, and visceral organs (11).


  • The incidence of Apert syndrome varies within the medical and allied health literature; however, the cited figures represent less than one-half of 1% of live births (12, 13).
  • Apert syndrome accounts for 4%-5% of craniosynstosis (13).

Communication Manifestations

  • There are few studies that report findings on the speech and language characteristics of Apert syndrome, and little is known about the cognitive profile of the syndrome (14, 15).
  • Intracranial anomalies include the absence of growth of the corpus callosum, leading to cognitive impairment (16).
  • Cleft palate may occur in 30% of individuals with Apert syndrome (17).
  • Although conductive hearing loss is common, there are contradicting reports regarding the cause of this hearing loss (18, 19).
  • According to one study, 56% of individuals with Apert syndrome will develop permanent low frequency conductive hearing loss by 10-20 years of age (19).

Crouzon Syndrome

Craniofacial dysostosis, or Crouzon syndrome, is characterized by premature craniosynostosis, underdevelopment or atrophy of the midface, and the presence of shallow eye sockets. A congenital absence of the auditory meatus is the principal ear anomaly (20).


  • The incidence of Crouzon syndrome varies within the medical and allied health literature; however, the cited figures represent less than one-half of 1% of live births (16).
  • Crouzon syndrome constitutes almost 5% of cases where there is a premature joining of certain bones of the skull (21).

Communication Manifestations

  • The major communication difficulties in Crouzon syndrome lie in the degree of palatal involvement, the severity of the oral cavity misalignment, and the type and degree of hearing loss (14, 22).
  • Anomalies of the palate include lateral palatal swellings in 50% of cases, but cleft lip/palate is not common (17).
  • It is estimated that 30% to 55% of patients with Crouzon syndrome have hearing loss. * The hearing loss is usually conductive in nature (17, 23) and may range from mild to moderately severe (14).
  • Acquired ear diseases may be similar to those typically observed among individuals with cleft palate or anomalies in the growth patterns of the skull (14).

Fetal Alcohol Syndrome

Fetal alcohol syndrome (F.A.S.) is characterized by a pattern of minor facial anomalies, prenatal and postnatal growth retardation, and functional or structural central nervous system abnormalities (24, 25).


  • Estimates on the incidence of F.A.S. vary from 0.2 to 1 per 1,000 live-born infants (25-27).
  • F.A.S. may affect up to 1% of the U.S. population (24).
  • Differences on reported estimates have also been noted among racial/ethnic populations (25).
  • One report estimates that the average lifetime cost for an individual with F.A.S. in 2002 was $2 million (28).

Communication Manifestations

  • Disorders of speech production associated with the syndrome include deficits in fluency, lack of intonation, voice dysfunctions, slurred speech, and poor articulation (29).
  • Language acquisition and comprehension are influenced by both hearing and cognitive functions. Verbal learning and memory deficits have been found in children with F.A.S. (29).
  • Expressive and receptive language delays are present in 86% of patients with F.A.S. (30).
  • The act of involuntarily imitating words and phrases spoken by others has been observed in some children with F.A.S. (29).
  • At least four types of hearing disorders result from prenatal alcohol exposure: (a) delayed maturation of the auditory system, (b) sensorineural hearing loss, (c) intermittent conductive hearing loss secondary to recurrent serous otitis media, and (d) central hearing loss (31).
  • Cognitive deficits and behavioral anomalies such as ADHD become more apparent in school-aged children with F.A.S. and persist into adolescence and adulthood (24).

Treacher Collins Syndrome

Treacher Collins syndrome is an autosomal dominant disorder of craniofacial development. The major features of the condition include underdevelopment or atrophy of the midface, microtia (congenitally, abnormally small auricles), conductive hearing loss, and cleft palate (32).


  • The estimated incidence of the syndrome is 1 in 50,000 live births (33-36).
  • In approximately 40% of cases, Treacher Collins syndrome is thought to be inherited as an autosomal dominant genetic trait. However, in 60% of those cases, a positive family history is not found. Research suggests that such cases represent new genetic changes that occur randomly, with no apparent cause (33, 35).

Communication Manifestations

  • Deformities that affect speech and language include underdevelopment of the facial bones and abnormal dentition with malocclusion (14).
  • To promote normal language development, cleft palate repair as well as evaluation by an otolaryngologist, audiologist and speech-language pathologist are recommended (35).
  • One-third of patients have cleft palate or velopharyngeal insufficiency (17).
  • A congenital bilateral conductive hearing loss is most common, although the presence of sensorineural impairment has been reported in some isolated cases. Presence of unilateral conductive hearing loss is unlikely (14).
  • About 50% of individuals with Treacher-Collins syndrome have conductive hearing loss, caused by characteristic major and/or minor ear anomalies. It is also common for these individuals to have microtia or severe malformation of the pinna (37).
  • According to one study that focused on communication disorders in individuals with Treacher-Collins syndrome, 60% of participants had an open bite, with isolated cleft being found in 37%. All patients demonstrated having a hearing loss (93% conductive, 7% mixed) as well as articulation disorders (38).


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Compiled by Andrea Castrogiovanni * American Speech-Language-Hearing Association * 2200 Research Boulevard, Rockville, MD 20850 *

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