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Acrocephalosyndactyly type V

MedGen UID:
78551
Concept ID:
C0265303
Congenital Abnormality; Disease or Syndrome
Synonyms: ACPS 4; ACPS IV; Acrocephalopolysyndactyly type 4; ACROCEPHALOPOLYSYNDACTYLY TYPE IV; Goodman camptodactyly; Goodman syndrome
SNOMED CT: Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (720600004); Goodman camptodactyly (720600004); Acrocephalopolysyndactyly type IV (733425005); Acrocephalopolysyndactyly type 4 (733425005); Goodman syndrome (733425005)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0008711
OMIM®: 201020
Orphanet: ORPHA65798

Definition

Goodman syndrome is an extremely rare genetic disorder with characteristics of marked malformations of the head and face (essentially acrocephaly), abnormalities of the hands and feet (polydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), and congenital heart disease. There have been no further descriptions in the literature since 1979. Goodman syndrome could be a variant of Carpenter syndrome. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAcrocephalosyndactyly type V
Follow this link to review classifications for Acrocephalosyndactyly type V in Orphanet.

Professional guidelines

PubMed

Casteleyn T, Horn D, Henrich W, Verlohren S
Arch Gynecol Obstet 2022 Jul;306(1):49-57. Epub 2021 Oct 11 doi: 10.1007/s00404-021-06263-9. PMID: 34633507Free PMC Article
Agochukwu NB, Solomon BD, Muenke M
Childs Nerv Syst 2012 Sep;28(9):1447-63. Epub 2012 Aug 8 doi: 10.1007/s00381-012-1756-2. PMID: 22872262Free PMC Article
Kaplan LC
Clin Plast Surg 1991 Apr;18(2):217-25. PMID: 2065483

Recent clinical studies

Etiology

Rasmussen SA, Frias JL
Clin Genet 1988 Jan;33(1):5-10. doi: 10.1111/j.1399-0004.1988.tb04258.x. PMID: 3342547

Diagnosis

Mixter RC, David DJ, Perloff WH, Green CG, Pauli RM, Popic PM
Plast Reconstr Surg 1990 Sep;86(3):457-63. doi: 10.1097/00006534-199009000-00011. PMID: 2385663

Clinical prediction guides

Rasmussen SA, Frias JL
Clin Genet 1988 Jan;33(1):5-10. doi: 10.1111/j.1399-0004.1988.tb04258.x. PMID: 3342547
Van Dyke DC, Zackai EH, Diamond GR
J Clin Dysmorphol 1983 Winter;1(4):2-5. PMID: 6432965

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