Acrocephalosyndactylia

Acrocephalosyndactylia
Acrocephalosyndactylia
Other names	ACS
	Acrocephalosyndactylia is inherited in an autosomal dominant manner
Specialty	Medical genetics

In pediatric medicine, acrocephalosyndactylia (or acrocephalosyndactyly) is the common presentation of craniosynostosis and syndactyly.^[2]

Cause[]

Diagnosis[]

Classification[]

It has several different types:

type 1 – Apert syndrome^[3]^[4]^: 577
type 2 – Crouzon syndrome^[4]^: 577^[5]
type 3 – Saethre–Chotzen syndrome^{[citation needed]}
type 4 - Goodman Syndrome^[6]
type 5 – Pfeiffer syndrome^[7]^[8]

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^[8]
type 2 – Carpenter syndrome^[9]
type 3 – Sakati–Nyhan–Tisdale syndrome^[10]
type 4 – Goodman syndrome;^[11]^[12] now classified with Carpenter syndrome^[13]
type 5 – Pfeiffer syndrome^{[citation needed]}

It has been suggested that the distinction between "acrocephalosyndactyly" versus "acrocephalopolysyndactyly" should be abandoned.^[14]

Treatment[]

References[]

^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Acrocephalosyndactyly". www.orpha.net. Retrieved 17 July 2019.
^ 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.
^ Diseases Database (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
^ Diseases Database (DDB): Saethre-Chotzen syndrome
^ Diseases Database (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. S2CID 37451807.
^ 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[]

Acrocephalosyndactylia at the US National Library of Medicine Medical Subject Headings (MeSH)

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[1] RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Acrocephalosyndactyly". www.orpha.net. Retrieved 17 July 2019.

[pmid14694405-2] 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.

[3] Diseases Database (DDB): Apert syndrome

[Andrews-4] James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.

[5] Online Mendelian Inheritance in Man (OMIM): Apert syndrome - 101200

[6] Diseases Database (DDB): Saethre-Chotzen syndrome

[7] Diseases Database (DDB): Pfeiffer syndrome

[PFEIFFER-8] Online Mendelian Inheritance in Man (OMIM): Pfeiffer syndrome - 101600

[9] Online Mendelian Inheritance in Man (OMIM): Carpenter syndrome - 201000

[10] Online Mendelian Inheritance in Man (OMIM): Acrocephalopolysyndactyly type III - 101120

[11] Online Mendelian Inheritance in Man (OMIM): Acrocephalopolysyndactyly type IV - 201020

[pmid421359-12] 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. S2CID 37451807.

[pmid3322002-13] 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.

[pmid7645606-14] 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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Classification	D ICD-10: Q87.0 ICD-9-CM: 755.55 MeSH: D000168
External resources	Orphanet: 946

v t Congenital abnormality syndromes
Craniofacial	Acrocephalosyndactylia Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome Bonnet–Dechaume–Blanc syndrome Other Baller–Gerold syndrome Cyclopia Goldenhar syndrome Möbius syndrome
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 Snyder–Robinson 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 syndromes	Beckwith–Wiedemann syndrome Proteus syndrome Perlman syndrome Sotos syndrome Weaver syndrome Klippel–Trénaunay–Weber syndrome Benign symmetric lipomatosis Bannayan–Riley–Ruvalcaba syndrome Neurofibromatosis type I
Laurence–Moon–Bardet–Biedl	Bardet–Biedl syndrome Laurence–Moon syndrome
Combined/other, known locus	2 (Feingold syndrome) 3 (Zimmermann–Laband syndrome) 4/13 (Fraser syndrome) 8 (Branchio-oto-renal syndrome, CHARGE syndrome) 12 (Keutel syndrome, Timothy syndrome) 15 (Marfan syndrome) 19 (Donohue syndrome) Multiple Fryns syndrome