Aarskog Syndrome

An X-linked recessive disorder with wide phenotypic variability characterized by short stature, HYPERTELORISM, shawl scrotum, and BRACHYDACTYLY. Other features, such as joint hyperextensibility, short nose, widow's peak, and INGUINAL HERNIA, may also occur. Most patients do not have intellectual disability, but some may have neurobehavioral features. Carrier females may present with subtle features. Mutations in the FGD1 gene have been identified. OMIM: 305400. Aarskog-like syndrome is a similar autosomal recessive disorder. OMIM: 227330

Also Known As:

Networked: 33 relevant articles (0 outcomes, 3 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Aarskog Syndrome
2.	Polymicrogyria
3.	Neck Pain (Cervicalgia)
4.	Neurofibromatoses (Neurofibromatosis)
5.	Spondylolysis

Experts

1.	Buccione, Roberto: 4 articles (07/2012 - 02/2009)
2.	Gorski, Jerome L: 3 articles (05/2009 - 08/2003)
3.	Eitzen, Gary: 2 articles (01/2021 - 01/2019)
4.	Murray, Allan G: 2 articles (01/2021 - 01/2019)
5.	Overduin, Michael: 2 articles (01/2021 - 01/2019)
6.	Smithers, Cameron C: 2 articles (01/2021 - 01/2019)
7.	Daubon, Thomas: 2 articles (07/2012 - 11/2011)
8.	Ando, Ken: 2 articles (01/2010 - 04/2008)
9.	Fujino, Tomofumi: 2 articles (01/2010 - 04/2008)
10.	Hayakawa, Makio: 2 articles (01/2010 - 04/2008)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Aarskog Syndrome:

1.	Growth Hormone (Somatotropin)IBA 03/01/1999 - "We describe 19 males with Aarskog syndrome who were treated with growth hormone (GH) and enrolled in the National Cooperative Growth Study (NCGS). " 10/01/2003 - "Growth hormone treatment in Aarskog syndrome: analysis of the KIGS (Pharmacia International Growth Database) data." 03/01/1999 - "The effect of growth hormone treatment on stature in Aarskog syndrome." 10/01/2003 - "The present study set out to determine the effect of growth hormone (GH) therapy in patients with Aarskog syndrome enrolled in KIGS--the Pharmacia International Growth Database. "
2.	DNA (Deoxyribonucleic Acid)IBA 03/15/2001 - "DNA study on our family using an intragenic polymorphism of the Aarskog syndrome (FGD1) gene and four other adjacent markers convincingly excludes the possibility that their condition could be caused by a mutation of the FGD1 gene. "
3.	Proteins (Proteins, Gene)FDA Link 01/01/2016 - "Minireview: Role of genetic changes of faciogenital dysplasia protein 1 in human disease." 07/15/2012 - "The cellular mechanisms by which FGD1 mutations lead to the hallmark skeletal deformations of faciogenital dysplasia remain unclear, but the pathology of the disease, as well as some recent discoveries, clearly show that the protein is involved in the regulation of bone development. " 11/01/2011 - "MLK3 regulates bone development downstream of the faciogenital dysplasia protein FGD1 in mice." 05/01/2009 - "Faciogenital dysplasia protein (FGD1) regulates export of cargo proteins from the golgi complex via Cdc42 activation." 03/09/2004 - "Mutations in faciogenital dysplasia protein (Fgd1) result in the human disease faciogenital dysplasia (FGDY). "
4.	Guanine Nucleotide Exchange Factors (Guanine Nucleotide Exchange Factor)IBA 12/05/2008 - "Members of the Fgd (faciogenital dysplasia) gene family encode a group of critical guanine nucleotide exchange factors (GEFs), which, by specifically activating Cdc42, control cytoskeleton-dependent membrane rearrangements. " 03/01/2001 - "Fgd1, the Cdc42 guanine nucleotide exchange factor responsible for faciogenital dysplasia, is localized to the subcortical actin cytoskeleton and Golgi membrane." 12/27/1996 - "The faciogenital dysplasia gene product FGD1 functions as a Cdc42Hs-specific guanine-nucleotide exchange factor." 11/18/1994 - "Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor." 06/01/2001 - "exc-5 encodes a protein homologous to guanine nucleotide exchange factors and contains motif architecture similar to that of FGD1, which is responsible for faciogenital dysplasia. "
5.	GTP Phosphohydrolases (GTPases)IBA 01/01/2019 - "Of all the human FYVE domain containing proteins, those within the faciogenital dysplasia (Fgd) subfamily are particularly divergent and couple with GTPases to exert unique cellular functions. " 03/01/2001 - "FGD1, the gene responsible for the inherited disease faciogenital dysplasia, encodes a guanine nucleotide exchange factor (GEF) that specifically activates the p21 GTPase Cdc42. " 08/01/1997 - "FGD1, the gene responsible for faciogenital dysplasia, encodes a guanine nucleotide exchange factor that specifically activates Cdc42, a member of the Rho (Ras homology) family of p21 GTPases. "
6.	Rho Guanine Nucleotide Exchange FactorsIBA 11/01/2011 - "Mutations in human FYVE, RhoGEF, and PH domain-containing 1 (FGD1) cause faciogenital dysplasia (FGDY; also known as Aarskog syndrome), an X-linked disorder that affects multiple skeletal structures. " 10/01/2007 - "Unilateral focal polymicrogyria in a patient with classical Aarskog-Scott syndrome due to a novel missense mutation in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene FGD1."
7.	Proteasome Endopeptidase Complex (Proteasome)IBA 01/01/2010 - "We previously demonstrated that FGD1, the Cdc42 guanine nucleotide exchange factor (GEF) responsible for faciogenital dysplasia, and its homologue FGD3 are targeted by the ubiquitin ligase SCF(FWD1) upon phosphorylation of two serine residues in their DSGIDS motif and subsequently degraded by the proteasome. " 04/01/2008 - "We previously demonstrated that FGD1, the Cdc42 guanine nucleotide exchange factor (GEF) responsible for faciogenital dysplasia, is targeted by the ubiquitin ligase SCF(FWD1/beta-TrCP) upon phosphorylation of two serine residues in its DSGIDS motif and subsequently degraded by the proteasome. "
8.	SKP Cullin F-Box Protein LigasesIBA 01/01/2010 - "We previously demonstrated that FGD1, the Cdc42 guanine nucleotide exchange factor (GEF) responsible for faciogenital dysplasia, and its homologue FGD3 are targeted by the ubiquitin ligase SCF(FWD1) upon phosphorylation of two serine residues in their DSGIDS motif and subsequently degraded by the proteasome. " 04/01/2008 - "We previously demonstrated that FGD1, the Cdc42 guanine nucleotide exchange factor (GEF) responsible for faciogenital dysplasia, is targeted by the ubiquitin ligase SCF(FWD1/beta-TrCP) upon phosphorylation of two serine residues in its DSGIDS motif and subsequently degraded by the proteasome. "
9.	rho GTP-Binding Proteins (rho GTP-Binding Protein)IBA 12/01/1996 - "Faciogenital dysplasia protein (FGD1) and Vav, two related proteins required for normal embryonic development, are upstream regulators of Rho GTPases." 08/01/2000 - "FGD1 encodes a guanine nucleotide exchange factor (GEF) that specifically activates the Rho GTPase Cdc42; FGD1 mutations result in Faciogenital Dysplasia (FGDY, Aarskog syndrome), an X-linked developmental disorder that adversely affects the formation of multiple skeletal structures. "
10.	Serine (L-Serine)FDA Link 01/01/2010 - "Indeed, there is a faciogenital dysplasia patient who has a missense mutation in proline-rich domain of FGD1, by which the serine residue at position 205 is substituted with isoleucine. " 01/01/2010 - "We previously demonstrated that FGD1, the Cdc42 guanine nucleotide exchange factor (GEF) responsible for faciogenital dysplasia, and its homologue FGD3 are targeted by the ubiquitin ligase SCF(FWD1) upon phosphorylation of two serine residues in their DSGIDS motif and subsequently degraded by the proteasome. " 04/01/2008 - "We previously demonstrated that FGD1, the Cdc42 guanine nucleotide exchange factor (GEF) responsible for faciogenital dysplasia, is targeted by the ubiquitin ligase SCF(FWD1/beta-TrCP) upon phosphorylation of two serine residues in its DSGIDS motif and subsequently degraded by the proteasome. "

Therapies and Procedures

1.	Therapeutics 10/01/2003 - "The present study set out to determine the effect of growth hormone (GH) therapy in patients with Aarskog syndrome enrolled in KIGS--the Pharmacia International Growth Database. "
2.	Proton Therapy 01/01/2022 - "Radiation Necrosis with Proton Therapy in a Patient with Aarskog-Scott Syndrome and Medulloblastoma."
3.	Traction 01/01/2022 - "Computer technologist Uses hands well #9 Aarskog syndrome Crown halo traction C2-6 anterior cervical fusion with iliac crest graft None Molded Minerva brace 20 years Fused 30° 14° 4 7 Works on a farm. " 01/01/2022 - "Syndromes encountered were spondyloepiphyseal dysplasia (SED) 4, spondylometaphyseal dysplasia 1, unnamed collagen abnormality syndrome 1, osteogenesis imperfecta (OI) 2, Aarskog syndrome 1, Weaver syndrome 1, Larsen syndrome 1, multiple cervical level disconnection syndrome 1, Klippel-Feil 3, congenital absence of C2 pars 4. Non-syndromic cases; 2 with neurofibromatosis (NF1) and prevertebral tumors, fibromatosis 1, spontaneous kyphosis 1, and postlaminectomy 4. Factors considered were age, pathology, flexibility on cervical spine dynamic films, reduction with traction and spinal cord compression. "
4.	Decompression 01/01/2022 - "Had C1-C3 posterior decompression and fusion elsewhere Progressive kyphosis Worse weakness Bend in fusion C1-2 40° No No #9 1996 11 years M Aarskog syndrome Neck pain with limited neck motion Cervical myelopathy Psychomotor delay C4-5 spondylolysis C5-6 kyphosis C5 30° No Yes 3 days #10 1989 3½ years F Weaver syndrome Quadriparesis age 2 years. "
5.	Braces 01/01/2022 - "Computer technologist Uses hands well #9 Aarskog syndrome Crown halo traction C2-6 anterior cervical fusion with iliac crest graft None Molded Minerva brace 20 years Fused 30° 14° 4 7 Works on a farm. "