Aarskog-scott syndrome

Preferred Label : Aarskog-scott syndrome;

Symbol : AAS;

CISMeF acronym : MRXS16; AAS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Faciogenital dysplasia; Faciodigitogenital syndrome; Aarskog syndrome, X-linked; FGDY;

Included titles and symbols : Faciogenital dysplasia with attention deficit-hyperactivity disorder; Mental retardation, X-linked, syndromic 16; MRXS16; Intellectual developmental disorder, X-linked, syndromic 16;

Description : Aarskog-Scott syndrome, also known as faciogenital dysplasia, is an X-linked disorder characterized by short stature, hypertelorism, shawl scrotum, and brachydactyly, although there is wide phenotypic variability and other features, such as joint hyperextensibility, short nose, widow's peak, and inguinal hernia, may also occur. Most patients do not have mental retardation, but some may have neurobehavioral features. Carrier females may present with subtle features, such as widow's peak or short stature (summary by Orrico et al., 2010).;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the faciogenital dysplasia gene (FGD1, 300546.0001);

Prefixed ID : #305400;

Details

Origin ID

305400;

UMLS CUI

C0175701;

Automatic exact mappings (from CISMeF team)
- Amino Acid [NCIt concept]
- Associate Degree [NCIt concept]
- Greig's syndrome [MedDRA Preferred Term]
- Of Each [NCIt concept]
- faciogenital dysplasia with attention Deficit-Hyperactivity disorder [MeSH concept]
- faciogenital dysplasia with attention Deficit-Hyperactivity disorder [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Aarskog Syndrome [NCIt concept]
- Aarskog syndrome [Disease (Nov.)]
- Aarskog syndrome [DO Concept]
- Aarskog syndrome [MeSH concept]
- Aarskog syndrome [MeSH Supplementary Concept]
- Aarskog syndrome (disorder) [SNOMED CT concept]
- Aarskog-Scott syndrome [ICD-11 More detail]
- Aarskog-Scott syndrome [ORDO Disease]
- Aarskog-Scott syndrome [MedDRA LLT]
- X-linked Aarskog syndrome [DO Concept]
- aarskog syndrome [SNOMED Notion]
DO Cross reference
- X-linked Aarskog syndrome [DO Concept]
False automatic mappings
- Aruba [NCIt concept]
- aspirin [MeSH Descriptor]
Genes related to phenotype
- Fyve, rhogef, and ph domain-containing protein 1 [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Bilateral cryptorchidism [HPO term]
- Brachydactyly [HPO term]
- Broad foot [HPO term]
- Broad palm [HPO term]
- Broad philtrum [HPO term]
- Cervical spine hypermobility [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Clinodactyly [HPO term]
- Cryptorchidism [HPO term]
- Curved linear dimple below the lower lip [HPO term]
- Decreased serum testosterone concentration [HPO term]
- Delayed puberty [HPO term]
- Downslanted palpebral fissures [HPO term]
- Elevated circulating follicle stimulating hormone level [HPO term]
- Elevated circulating luteinizing hormone level [HPO term]
- Failure to thrive [HPO term]
- Global developmental delay [HPO term]
- Hyperextensibility of the finger joints [HPO term]
- Hypermetropia [HPO term]
- Hypertelorism [HPO term]
- Hypodontia [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Hypoplasia of the odontoid process [HPO term]
- Increased upper to lower segment ratio [HPO term]
- Increased upper to lower segment ratio [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability, mild [HPO term]
- Joint laxity [HPO term]
- Large earlobe [HPO term]
- Lozenge-shaped umbilicus [HPO term]
- Mild short stature [HPO term]
- Mild to moderate short stature [HPO term]
- Pectus excavatum [HPO term]
- Pes planus [HPO term]
- Prominent umbilicus [HPO term]
- Ptosis [HPO term]
- Radial deviation of finger [HPO term]
- Round face [HPO term]
- Scoliosis [HPO term]
- Shawl scrotum [HPO term]
- Short 5th finger [HPO term]
- Short broad hands [HPO term]
- Short foot [HPO term]
- Short neck [HPO term]
- Short nose [HPO term]
- Short palm [HPO term]
- Short stature [HPO term]
- Single transverse palmar crease [HPO term]
- Small, short nose [HPO term]
- Strabismus [HPO term]
- Syndactyly [HPO term]
- Testicular atrophy [HPO term]
- Wide nasal bridge [HPO term]
- Widow's peak [HPO term]
- X-linked recessive inheritance [HPO term]
Not associated HPO term(s)
- Decreased fertility [HPO term]
ORDO concept(s)
- Aarskog-Scott syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aarskog Syndrome [NCIt concept]
- Aarskog syndrome [MeSH Supplementary Concept]
- Aarskog syndrome [MeSH concept]
- Aarskog syndrome [MedDRA LLT]
- Aarskog syndrome (disorder) [SNOMED CT concept]
- Aarskog-Scott syndrome [MedDRA LLT]
- Aarskog-Scott syndrome [ORDO Disease]
- X-linked Aarskog syndrome [DO Concept]
- aarskog syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients