Acrocephalosyndactylia

Acrocephalosyndactylia

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]

It has several different types:

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.^[6]
type 2 - Carpenter syndrome ^[7]
type 3 - Sakati-Nyhan-Tisdale syndrome ^[8]
type 4 - Goodman syndrome.^[9]^[10] Now classified with Carpenter syndrome.^[11]
type 5 - Pfeiffer syndrome

It has been suggested that the distinction between "acrocephalosyndactyly" versus "acrocephalopolysyndactyly" should be abandoned.^[12]

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. PMID 14694405.
^ DDB Apert syndrome
^ 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. 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.

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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-Trénaunay-Weber syndrome - Nail-patella syndrome - Rubinstein-Taybi syndrome - Sirenomelia - VACTERL association

Overgrowth	Beckwith-Wiedemann syndrome - Sotos syndrome - Weaver syndrome

Collagen	Alport 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)

Combined/other, unknown locus	Ablepharon macrostomia syndrome - Fountain syndrome - Urban-Rogers-Meyer syndrome - Yunis-Varon syndrome