Aarskog-scott Syndrome (AAS) malady

NIH Rare Diseases:³⁹ Aarskog syndrome is an inherited disease that affects a person's height, muscles, skeleton, genitals, and appearance of the face. intellectual development may also be affected. about 20 percent of people with aarskog-scott syndrome have mutations in the fgd1 gene. the cause in other affected individuals is unknown. the condition is inherited in an x-linked recessive pattern.

MalaCards: Aarskog-scott Syndrome, also known as aarskog syndrome, is related to boomerang dysplasia and wiskott-aldrich syndrome, and has symptoms including hypertelorism, low set ears/posteriorly rotated ears and short neck. An important gene associated with Aarskog-scott Syndrome is FGD1 (FYVE, RhoGEF and PH domain containing 1), and among its related pathways are Nectin adhesion pathway and Regulation of actin cytoskeleton. The compounds guanosine 5-o-(3-thiotriphosphate) and jasplakinolide have been mentioned in the context of this disorder.

Disease Ontology:⁸ A monogenic disease affects a person's height, muscles, skeleton, genitals, and appearance of the face.

Genetics Home Reference:²⁰ Aarskog-Scott syndrome is a genetic disorder that affects the development of many parts of the body. This condition mainly affects males, although females may have mild features of the syndrome.

OMIM:

External Ids:

Disease Ontology8 DOID:6683 OMIM43 305400, 100050 SNOMED-CT52 205809002, 14921002

MeSH31 C535331 ICD10 via Orphanet24 Q87.1 UMLS56 C0175701

Clinical features from OMIM:

Symptoms:

⁴⁵

hypertelorism low set ears/posteriorly rotated ears short neck pectus excavatum syndactyly of fingers/interdigital palm intellectual deficit/mental/psychomotor retardation/learning disability inguinal/inguinoscrotal/crural hernia psychic/behavioural troubles umbilical hernia anomalies of teeth and dentition flat foot anteverted nares/nostrils short stature/dwarfism/nanism long philtrum cleft palate without cleft lip/submucosal cleft palate/bifid uvula congenital cardiac anomaly/malformation/cardiopathy short hand/brachydactyly hyperextensible joints/articular hyperlaxity delayed dentition/eruption of teeth/lack of eruption of teeth strabismus/squint epicanthic folds heart/cardiac failure broad nasal root short foot/brachydactyly of toes genu recurvatum

x-linked recessive inheritance hyperactivity/attention deficit undescended/ectopic testes/cryptorchidia/unfixed testes talipes-varus/metatarsal varus ptosis clinodactyly of fifth finger external ear anomalies cleft lip and palate simian crease/transverse/unique palmar crease round face downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures broad forehead everted lower lip megalocornea high hair line (front)/widow peak anomalies of spine, vertebrae and pelvis anomalies of hands small hand/acromicria camptodactyly of some fingers cleft lip hyperelastic skin/cutaneous hyperlaxity hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia broad foot shawl scrotum