Skip to main content

Beare-Stevenson cutis gyrata syndrome

 Beare-Stevenson cutis gyrata syndrome



Overview

Beare-Stevenson cutis gyrata syndrome is a rare, life-threatening genetic disorder caused by specific mutations in the FGFR2 (fibroblast growth factor receptor 2) gene, inherited in an autosomal dominant pattern.

Symptoms

• Craniosynostosis: Premature closure of the skull sutures, frequently resulting in a cloverleaf-shaped skull (kleeblattschädel) in over half of cases.

• Facial appearance: Bulging eyes (proptosis), wide-set eyes (hypertelorism), downward-slanting eyelids (downslanted palpebral fissures), drooping eyelids (ptosis), and an underdeveloped upper jaw (midface hypoplasia/retrusion).

• Ear defects: Abnormalities of the earlobes, narrow or stenotic ear canals, and conductive hearing loss.

• Cutis gyrata: Thick, furrowed, and wrinkled skin resembling a corrugated pattern, most commonly seen on the face, forehead, neck, ears, palms, and soles.

• Acanthosis nigricans: Thick, dark, velvety skin patches, typically appearing on the hands, feet, and genital/groin areas.

• Other skin features: Corduroy-like linear striations, skin tags, and firm subcutaneous nodules.

• Airway and nasal blockages: Blockage of the nasal passages (choanal atresia/stenosis) and airway malformations such as a tracheal cartilaginous sleeve, which cause severe respiratory distress.

• Umbilical abnormality: An overgrown or prominent umbilical stump.

• Genitourinary and anal anomalies: Abnormally placed anus, hypospadias, bifid scrotum, or hypoplastic labia.

• Neurological development: Restricted brain growth leading to developmental delay and intellectual disability, sometimes accompanied by hydrocephalus or an absent/underdeveloped corpus callosum

Causes

• Specific Gene: The disorder stems from changes in the FGFR2 gene located on chromosome 10q26.13.

• Common Mutations: Most cases are linked to specific amino acid changes in the receptor, most notably p.Tyr375Cys (Tyr375Cys) and p.Ser372Cys (Ser372Cys).

• Inheritance Pattern: It follows an autosomal dominant pattern of inheritance, meaning a single copy of the altered gene in each cell is enough to cause the disorder.

• New (De Novo) Mutations: Almost all documented cases occur as sporadic new mutations with no prior family history of the condition; they often correlate with an increased paternal age.

Diagnosis

• Clinical Evaluation: Doctors identify the syndrome by its signature physical features, including:

• Craniosynostosis (premature fusion of skull bones, often leading to a cloverleaf-shaped head)

• Cutis gyrata (wrinkled, furrowed skin resembling a corrugated surface on the face, ears, palms, and soles)

• Acanthosis nigricans (thick, dark, velvety skin patches on the hands, feet, or genital areas)

• Other signs like bulging eyes (proptosis), underdeveloped upper jaws, choanal atresia (blocked nasal passages), and a prominent umbilical stump.

Genetic Testing: The gold standard for confirmation is targeted molecular analysis or gene sequencing of the FGFR2 gene (specifically looking for heterozygous missense mutations such as p.Tyr375Cys or p.Ser372Cys). This test can be performed via postnatal blood draw or prenatal methods like amniocentesis.

• 

• Computed Tomography (CT) scans map out multisutural craniosynostosis and skull bone changes.

• Magnetic Resonance Imaging (MRI) evaluates internal brain structures, ventriculomegaly, or hydrocephalus.

• X-rays or ultrasounds may assist in checking skeletal or airway anomalies.

• Prenatal Ultrasound: Can sometimes detect fetal head shape abnormalities, ventriculomegaly, or eye protrusion during the second or third trimester, though mild or atypical cases may not show visible craniosynostosis until after birth.

Treatment

• Craniosynostosis Management: Neurosurgical procedures, such as cranial vault or forehead and facial advancement surgeries, are used to relieve increased intracranial pressure caused by the premature fusion of skull bones.

• Airway and Respiratory Support: Continuous monitoring for respiratory compromise, choanal stenosis, or obstruction is critical due to a high risk of sudden infant death. Interventions can include airway stabilization or tracheostomy.

• Hydrocephalus Treatment: Placement of a ventriculoperitoneal (VP) shunt may be required if fluid builds up in the brain.

• Skin and Anogenital Care: Management of skin anomalies like acanthosis nigricans, cutis gyrata (wrinkled, furrowed skin), and skin tags, as well as urogenital or anogenital malformations.

• Ear and Hearing Treatment: Evaluation and management of ear abnormalities and conductive hearing loss.

Type of Doctor Department : Medical Geneticist , Craniofacial Surgeon / Plastic Surgeon

Comments

Post a Comment

Popular posts from this blog

Charge Syndrome

Overview CHARGE syndrome is a recognizable genetic syndrome with known pattern of features. It is an extremely complex syndrome, involving extensive medical and physical difficulties that differ from child to child. CHARGE syndrome is correlated with genetic mutation to CHD7 and the prevalence of CHARGE syndrome is 1:10,000-1:15,000 live births. Babies with CHARGE syndrome are often born with life-threatening birth defects. They spend many months in the hospital and undergo many surgeries and other treatments. Swallowing and breathing problems make life difficult even when they come home. Most have hearing two little girls sitting on a carpet, one girl has a trach and is biting her finger.loss, vision loss, and balance problems that delay their development and communication. Despite these seemingly insurmountable obstacles, children with CHARGE syndrome often far surpass their medical, physical, educational, and social expectations. One of the hidden features of CHARGE syndrome is the ...
7 comments
Read more

Dehydration Due to Diarrheal Diseases

Overview Dehydration occurs when you use or lose more fluid than you take in, and your body doesn't have enough water and other fluids to carry out its normal functions. If you don't replace lost fluids, you will get dehydrated. Anyone may become dehydrated, but the condition is especially dangerous for young children and older adults. The most common cause of dehydration in young children is severe diarrhea and vomiting. Older adults naturally have a lower volume of water in their bodies, and may have conditions or take medications that increase the risk of dehydration. This means that even minor illnesses, such as infections affecting the lungs or bladder, can result in dehydration in older adults. Dehydration also can occur in any age group if you don't drink enough water during hot weather — especially if you are exercising vigorously. You can usually reverse mild to moderate dehydration by drinking more fluids, but severe dehydration needs immediate medical treatment. ...
Post a Comment
Read more

Ataxia with Vitamin E Deficiency

Synonyms of Ataxia with Vitamin E Deficiency AVED Familial Isolated Vitamin E Deficiency Isolated Vitamin E Deficiency General Discussion Ataxia with vitamin E deficiency (AVED) is a rare inherited neurodegenerative disorder characterized by impaired ability to coordinate voluntary movements (ataxia) and disease of the peripheral nervous system (peripheral neuropathy). AVED is a progressive disorder that can affect many different systems of the body (multisystem disorder). Specific symptoms vary from case to case. In addition to neurological symptoms, affected individuals may experience eye abnormalities, disorders affecting the heart muscles (cardiomyopathy), and abnormal curvature of the spine (scoliosis). AVED is extremely similar to a more common disorder known as Friedreich’s ataxia. AVED is inherited as an autosomal recessive trait. Vitamin E deficiency often occurs secondary to disorders that impair the absorption of vitamin E from fat including liver disorders, disorders of fat...
Post a Comment
Read more