Size is generally normal at birth, but growth is slow in infancy and childhood, leading to short stature until puberty, which is often delayed. A growth spurt in late teens, generally, results in a moderate short stature. [orpha.net]

They frequently have mild to moderate short stature during childhood, but their growth usually catches up with that of their peers during puberty. [en.wikipedia.org]

Patients may present a neurodevelopmental phenotype with learning and behavioural disabilities that are often confined to early childhood. When present, mental impairment is rarely severe. [orpha.net]

In rare cases, severe intellectual disability has been reported. Aarskog-Scott syndrome is believed to be a rare disorder; however, its prevalence is unknown because mildly affected people may not be diagnosed. [ghr.nlm.nih.gov]

In rare cases, severe intellectual disability has been reported.[3] Genetics[edit] X-linked recessive inheritance. Mutations in the FGD1 gene are the only known genetic cause of Aarskog-Scott syndrome. [en.wikipedia.org]

Less often, they have undescended testes (cryptorchidism) or a soft out-pouching around the belly-button (umbilical hernia) or in the lower abdomen (inguinal hernia). The intellectual development of people with Aarskog-Scott syndrome varies widely. [ghr.nlm.nih.gov]

Less often, they have undescended testes (cryptorchidism) or a soft out-pouching around the belly-button (umbilical hernia) or in the lower abdomen (inguinal hernia).[3] The intellectual development of people with Aarskog–Scott syndrome varies widely. [en.wikipedia.org]

In addition, affected individuals may have a sunken chest (pectus excavatum), protrusion of portions of the large intestine through an abnormal opening in the muscular lining of the abdominal cavity (inguinal hernia), and a prominent navel (umbilicus) [rarediseases.org]

Hand abnormalities are common in this syndrome and include short fingers (brachydactyly), curved pinky fingers (fifth finger clinodactyly), webbing of the skin between some fingers (cutaneous syndactyly), and a single crease across the palm. [ghr.nlm.nih.gov]

lymphoma 2019 one death aged 54. [en.wikipedia.org]

Aarskog–Scott syndrome / Aarskog Syndrome Other names Faciodigitogenital syndrome (FGDY), faciogenital dysplasia, Aarskog disease, Scott Aarskog syndrome[1] Specialty Medical genetics Symptoms Broad hands and feet, wide set eyes, low set ears, drooping [en.wikipedia.org]

Ear abnormalities include low-set ears and thickened, “fleshy” earlobes. Dental abnormalities include missing teeth at birth, delayed eruption of teeth, and underdevelopment of the hard outer covering of teeth (enamel hypoplasia). [rarediseases.org]

Aarskog syndrome is basically a skeletal dysplasia and affected males develop characteristic malformations of the skeletal system including disproportionate short stature; broad, short hands and feet; short, stubby fingers (brachydactyly) with permanent [rarediseases.org]

Evidence suggests that Aarskog-Scott syndrome is inherited in an autosomal dominant or autosomal recessive pattern in some families, although the genetic cause of these cases is unknown. [ghr.nlm.nih.gov]

These results suggest that FGD1 signaling may play a role in the biology of several different skeletal cell types including mesenchymal prechondrocytes, chondrocytes, and osteoblasts. [en.wikipedia.org]

JP Fryns: personal communication), a typical-sized clinical genetics unit, suggests that two to three new patients with a proven variant in the FGD1 gene will be identified per year, a similar number as for Angelman and Prader–Willi syndrome. [nature.com]

Female carriers may have only a subtle phenotype with hypertelorism and widow's peak. Patients may present a neurodevelopmental phenotype with learning and behavioural disabilities that are often confined to early childhood. [orpha.net]

Females who carry one altered copy of the FGD1 gene may show mild signs of the condition, such as hypertelorism, short stature, or a widow's peak hairline. [ghr.nlm.nih.gov]

Especially the latter condition presents with many clinical similarities (short stature, hypertelorism, facial features). [nature.com]

[…] genital anomalies.[2] This condition mainly affects males, although females may have mild features of the syndrome.[3][4] Signs and symptoms[edit] People with Aarskog–Scott syndrome often have distinctive facial features, such as widely spaced eyes (hypertelorism [en.wikipedia.org]

neck with or without webbing. [rarediseases.org]

Some may have mild learning and behavior problems, while others have normal intelligence. In rare cases, severe intellectual disability has been reported. [ghr.nlm.nih.gov]

Some may have mild learning and behavior problems, while others have normal intelligence. In rare cases, severe intellectual disability has been reported.[3] Genetics[edit] X-linked recessive inheritance. [en.wikipedia.org]

Learning problems and attention deficit and hyperactivity disorder (ADHD), in case, may require a neuropsychiatric intervention. Prognosis The majority of patients present a good prognosis. [orpha.net]

Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q). Am J Med Genet A. 2005 May 15;135(1):99-102. [ghr.nlm.nih.gov]

J Pediatr Endocrinol Metab 2006; 19: 1125–1131. 20 Orrico A, Galli L, Buoni S et al Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott Syndrome due to a novel FGD1 gene variant (R408Q). [nature.com]

Orrico A, Galli L, Buoni S et al: Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott Syndrome due to a novel FGD1 gene variant (R408Q). Am J Med Genet A 2005;135:99–102. [rarediseases.org]