Acrocephalosyndactylia

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Acrocephalosyndactylia
Classification and external resources
ICD-10	Q 87.0
ICD-9	755.55
MeSH	D000168

Acrocephalosyndactylia (or acrocephalosyndactyly) is the common presentation of craniosynostosis and syndactyly.^[1]

Contents

1 Classification
2 See also
3 References
4 External links

Classification

It has several different types:

type 1 - Apert syndrome^[2]^[3]^:577
type 2 - Apert syndrome^[3]^:577^[4]
type 3 - Saethre-Chotzen syndrome^[5]
type 5 - Pfeiffer syndrome ^[6]^[7]

A related term, "acrocephalopolysyndactyly" (ACPS), refers to the inclusion of polydactyly to the presentation. It also has multiple types:

type 1 - Noack syndrome; now classified with Pfeiffer syndrome^[7]
type 2 - Carpenter syndrome^[8]
type 3 - Sakati-Nyhan-Tisdale syndrome ^[9]
type 4 - Goodman syndrome;^[10]^[11] now classified with Carpenter syndrome^[12]
type 5 - Pfeiffer syndrome

It has been suggested that the distinction between "acrocephalosyndactyly" versus "acrocephalopolysyndactyly" should be abandoned.^[13]

References

^ Kodaka T, Kanamori Y, Sugiyama M, Hashizume K (January 2004). "A case of acrocephalosyndactyly with low imperforate anus". J. Pediatr. Surg. 39 (1): E32–4. doi:10.1016/j.jpedsurg.2003.09.037. PMID 14694405. http://linkinghub.elsevier.com/retrieve/pii/S0022346803007310.
^ DDB Apert syndrome
^ ^a ^b James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
^ Online 'Mendelian Inheritance in Man' (OMIM) Apert syndrome -101200
^ DDB Saethre-Chotzen syndrome
^ DDB Pfeiffer syndrome
^ ^a ^b Online 'Mendelian Inheritance in Man' (OMIM) Pfeiffer syndrome -101600
^ Online 'Mendelian Inheritance in Man' (OMIM) Carpenter syndrome -201000
^ Online 'Mendelian Inheritance in Man' (OMIM) Acrocephalopolysyndactyly type III -101120
^ Online 'Mendelian Inheritance in Man' (OMIM) Acrocephalopolysyndactyly type IV -201020
^ Goodman RM, Sternberg M, Shem-Tov Y, Katznelson MB, Hertz M, Rotem Y (March 1979). "Acrocephalopolysyndactyly type IV: a new genetic syndrome in 3 sibs". Clin. Genet. 15 (3): 209–14. doi:10.1111/j.1399-0004.1979.tb00969.x. PMID 421359.
^ Cohen DM, Green JG, Miller J, Gorlin RJ, Reed JA (October 1987). "Acrocephalopolysyndactyly type II--Carpenter syndrome: clinical spectrum and an attempt at unification with Goodman and Summit syndromes". Am. J. Med. Genet. 28 (2): 311–24. doi:10.1002/ajmg.1320280208. PMID 3322002.
^ Cohen MM, Kreiborg S (May 1995). "Hands and feet in the Apert syndrome". Am. J. Med. Genet. 57 (1): 82–96. doi:10.1002/ajmg.1320570119. PMID 7645606.

External links

MeSH Acrocephalosyndactylia

v t e Congenital abnormality · multiple abnormalities (Q87, 759.7)

Craniofacial	Acrocephalosyndactylia (Apert syndrome/Pfeiffer syndrome, Saethre-Chotzen syndrome, Carpenter syndrome, Sakati-Nyhan-Tisdale syndrome) other: Möbius syndrome · Goldenhar syndrome · Cyclopia

Short stature	1q21.1 deletion syndrome · Aarskog–Scott syndrome · Cockayne syndrome · Cornelia de Lange Syndrome · Dubowitz syndrome · Noonan syndrome · Robinow syndrome · Silver–Russell syndrome · Seckel syndrome · Smith-Lemli-Opitz syndrome-Turner syndrome

Limbs	Adducted thumb syndrome · Holt-Oram syndrome · Klippel-Trénaunay-Weber syndrome · Nail–patella syndrome · Rubinstein-Taybi syndrome Gastrulation/mesoderm: Caudal regression syndrome · ectromelia (Sirenomelia) · VACTERL association

Overgrowth	Beckwith-Wiedemann syndrome · Sotos syndrome · Weaver syndrome · Perlman syndrome

Laurence-Moon-Bardet-Biedl	Bardet–Biedl syndrome · Laurence-Moon syndrome

Combined/other, known locus	3 (Zimmerman-Laband syndrome) · 4/13 (Fraser syndrome) · 8 (Branchio-oto-renal syndrome) · 12 (Keutel syndrome, Timothy syndrome) · 15 (Marfan syndrome) · 19 (Donohue syndrome)

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