SYNDROMES ASSOCIATED WITH

CRANIOFACIAL ABNORMALITIES  

  1. Apert Syndrome (acrocephalisyndactyly type I).
  2. Carpenter Syndrome
  3. Crouzon's Syndrome
  4. Saethre-Chotzen Syndrome (acrocephalosyndactyly type III).
  5. Pfeiffer Syndrome (acrocephalosyndactyly type V).
  6. Antley-Bixler syndrome.

 

SYNDROMES ASSOCIATED WITH

OTOCRANIOFACIAL SYNDROMES  

 

  1. Treacher Collins Syndrome
  2. Nager Acrofacial Dysostosis
  3. Hallermann-Streiff-Francois (Oculomandibulofacial) Syndrome.
  4. Goldenhar-Gorlin Syndrome

 

 

Syndrome

Involved sutures

Cranial deformities

Other abnormalities

Apert

Coronal

Sagittal,

Lambdoid

Brachycephaly,

Oxycephaly,

Midface hypoplasia,

Hypertelorism,

Prominent forehead

Syndactyly (hands and feet symmetrically),

“mitten like” hand, broad thumb and big toe.

Occasionally mental retardation.

Crouzon

Coronal,

Sagittal

Brachycephaly, oxycephaly,

Midface hypoplasia,

Exophthalmos,

Hypertelorism,            

 Short upper lip.           

Mandibular prognathism

Normal limbs

No mental retardation

Pfeiffer

Coronal,

Sagittal

Barchycephaly,

Cloverleaf skull

Polysyndactyly ,       

Abducted thumb,

No mental retardation

Saethe-Chotzen

One or two

Coronal sutures

Plagiocephaly,

Brachycephaly,                

Flat facies,

High forehead,

Ear abnormalities

Polysyndactyly (hands + feet),

Coarse hands (hypoplastic distal phalanx),

No mental retardation.

Antley-Bixler

Coronal

Brachycephaly,

Midface hypoplasia,

Frontal bossing

Radiohumeral synostosis,

Multiple joint contractures,

Mental retardation

Jackson-Weiss

Coronal,

Sagittal

Oxycephaly,

Brachycephaly,

Midface hypoplasia

Enlarged big toes,

Syndactyly of second + third toes,

Normal intelligence