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Faciodigitogenital syndrome

MedGen UID:
977974
Concept ID:
CN293568
Disease or Syndrome
Synonyms: Aarskog syndrome; Aarskog-Scott syndrome; faciodigitogenital syndrome; Faciogenital dysplasia; faciogenital dysplasia
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).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Related gene: FGD1
 
Monarch Initiative: MONDO:0021005
Orphanet: ORPHA915

Definition

A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Sepulveda W, Dezerega V, Horvath E, Aracena M
J Ultrasound Med 1999 Oct;18(10):707-10. doi: 10.7863/jum.1999.18.10.707. PMID: 10511304

Recent clinical studies

Etiology

Sepulveda W, Dezerega V, Horvath E, Aracena M
J Ultrasound Med 1999 Oct;18(10):707-10. doi: 10.7863/jum.1999.18.10.707. PMID: 10511304

Diagnosis

Pavone P, Marino S, Maniaci A, Cocuzza S
BMJ Case Rep 2020 Jun 30;13(6) doi: 10.1136/bcr-2020-235183. PMID: 32606125Free PMC Article
Depeyre A, Schlund M, Gryseleyn R, Ferri J
J Oral Maxillofac Surg 2018 Oct;76(10):2202-2208. Epub 2018 Mar 29 doi: 10.1016/j.joms.2018.03.027. PMID: 29689188
Sepulveda W, Dezerega V, Horvath E, Aracena M
J Ultrasound Med 1999 Oct;18(10):707-10. doi: 10.7863/jum.1999.18.10.707. PMID: 10511304

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