Saethre-Chotzen syndrome

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Saethre-Chotzen syndrome Classification and external resources
OMIM	101400
DiseasesDB	29331
MeSH	D000168

Saethre-Chotzen syndrome, also known as acrocephalosyndactyly type 3 (ACS III) and Chotzen syndrome is a very rare congenital syndrome characterised by craniosynostosis (premature closure of one or more of the sutures between the bones of the skull).

It is an autosomal dominant disorder with the error being in the TWIST transcription factor.

Contents 1 Features 2 Epidemiology 3 See also 4 External links

[edit] Features

Classic features include:

1. synostosis of the coronal sutures of the skull resulting in characteristic faces including ptosis, facial asymmetry and small ears
2. syndactyly of the fingers, particularly of the second and third digits
3. Intelligence is usually normal. Some affected individuls may have mild to moderate mental retardation.

[edit] Epidemiology

The incidence of this rare syndrome is estimated at between 1 in 25-50,000 live births.

[edit] See also

• Acrocephalosyndactylia

[edit] External links

• Article on SCS
• NIH summary on SCS

v • d • e Congenital abnormality - multiple abnormalities (Q87, 759.7) Facial Acrocephalosyndactylia (Apert syndrome, Saethre-Chotzen syndrome, Pfeiffer syndrome, Carpenter syndrome, Sakati-Nyhan-Tisdale syndrome) - Mobius syndrome - Goldenhar syndrome - Cyclopia Short stature Aarskog-Scott syndrome - Cockayne syndrome - Cornelia de Lange Syndrome - Dubowitz syndrome - Noonan syndrome - Robinow syndrome - Silver-Russell dwarfism - Seckel syndrome - Smith-Lemli-Opitz syndrome Limbs Adducted thumb syndrome - Holt-Oram syndrome - Klippel-Trenaunay-Weber syndrome - Nail-patella syndrome - Rubinstein-Taybi syndrome - Sirenomelia - VACTERL association Overgrowth Beckwith-Wiedemann syndrome - Sotos syndrome - Weaver syndrome Collagen Alport syndrome Combined/other, known locus 3 (Zimmerman-Laband syndrome) - 4/13 (Fraser syndrome) - 8 (Branchio-oto-renal syndrome) - 11/16 (Bardet-Biedl syndrome) - 12 (Keutel syndrome, Timothy syndrome) - 15 (Marfan syndrome) - 19 (Donohue syndrome) Combined/other, unknown locus Ablepharon macrostomia syndrome - Fountain syndrome - Urban-Rogers-Meyer syndrome - Vici syndrome - Yunis-Varon syndrome - Zori Stalker Williams syndrome