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Zpráva o onemocněních · Musculoskeletal

Aarskog-Scott Syndrome (FGD1)

Whole genome sequencing reads the FGD1 gene on the X chromosome for inherited changes that cause Aarskog-Scott syndrome, which affects height, the face, the hands and the genitals, mainly in boys.

Zpráva o onemocněních hledá vzácné varianty, o nichž je známo, že způsobují onemocnění, na něž se zpráva zaměřuje.

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O tomto condition

An X-linked condition, mainly affecting boys, that causes short stature and characteristic differences of the face, hands and genitals. It is caused by changes in the FGD1 gene on the X chromosome.

Aarskog-Scott syndrome is an X-linked condition that mainly affects boys. It causes mild to moderate short stature in childhood, although growth often catches up during puberty. Features include widely spaced eyes, short broad hands with short fingers, and a 'shawl' scrotum, which is common in boys. Undescended testes and inguinal hernias can also occur.

It is caused by changes in the FGD1 gene on the X chromosome. FGD1 makes a protein that activates a signalling molecule called Cdc42, which is important for bone development. Males are mainly affected, and females who carry a change usually have no signs or only mild features.

Intellectual development varies, and most people have normal intelligence, although a high prevalence of learning and attention difficulties has been reported. Care includes growth monitoring, orthopaedic and dental review, and surgery for undescended testes or hernias when needed. Mothers of affected boys are often carriers, so carrier testing for female relatives can clarify the recurrence risk.

Onemocnění, které analyzujeme

X-vázaně recesivní

Caused by changes in the FGD1 gene on the X chromosome, which is involved in skeletal and facial development. Males are mainly affected; females who carry a change usually have no signs or only mild features.

Příznaky a projevy

Mild to moderate short stature, widely spaced eyes and short, broad hands with short fingers are features. A 'shawl' scrotum is common in boys, and undescended testes can occur. Less often there are learning or attention difficulties, inguinal hernias, dental anomalies or cervical spine differences.

Co se diagnózou změní

Growth monitoring, orthopaedic and dental review, and surgery for undescended testes or hernias when needed; developmental and educational support where learning is affected. Mothers of affected boys are often carriers, so carrier testing for female relatives and genetic counselling can clarify recurrence risk.

Analyzované geny

Známé také jako

Aarskog disease; Aarskog syndrome; Aarskog syndrome, X-linked; Aarskog-like syndrome; Aarskog-Scott syndrome, X-linked recessive; AAS; facio-digito-genital dysplasia; faciodigitogenital syndrome; faciodigitogenital syndrome, recessive; faciogenital dysplasia; FGD; FGDY; mental retardation, X-linked syndromic 16, X-linked recessive; mental retardation, X-linked, syndromic 16; mental retardation, X-linked, syndromic 16, included; MRXS16, included

MONDO:0010589OMIM 305400MedGen 61234Zdroje: [1][2][3]

Proč sekvenování celého genomu

Aarskog-Scott syndrome is inherited through the X chromosome, so the family's FGD1 change matters for female relatives. FGD1 is the only known causative gene, and a negative result should be read with care.

Carrier testing helps female relatives

Affected males pass the change to all of their daughters and none of their sons. Carrier testing for female relatives and genetic counselling can clarify the chance of passing the change on.

A negative result needs careful reading

Diagnosis of this condition remains difficult, so a negative result should be interpreted with care, as the report notes. Male relatives at risk can be checked, so that any heart defects can be identified and managed.

Omezení

  • FGD1 is the only known causative gene, but diagnosis of Aarskog-Scott syndrome remains difficult, so a negative result should be interpreted with care.

Reference

  1. Jeanne M, 2026. FGD1-Related Faciogenital Dysplasia (Aarskog-Scott Syndrome). GeneReviews
  2. Aarskog-Scott syndrome. MedlinePlus Genetics
  3. Jeanne M, Ronce N, Remizé S, Arpin S, Baujat G, Breton S et al., 2025. Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations. Journal of medical genetics

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