Schaaf-Yang syndrome

Was ist Schaaf-Yang syndrome?

It is a rare genetic syndrome that is similar to Prader-Willi syndrome. It shares similar symptoms with the syndrome but minus the excessive appetite that accompanies Prader-Willi.

This syndrome is also known as:
Prader-willi-like Syndrome; Pwls

Was Genveränderungen verursachen Schaaf-Yang syndrome?

Mutations to the MAGEL2 gene on chromosome 15 cause the syndrome.
If this gene, along with several other genes, is missing it causes Prader-Willi syndrome. This is usually inherited in an autosomal dominant pattern, but most cases of the syndrome are de novo or new mutations.

In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

Was sind die wichtigsten symptome von Schaaf-Yang syndrome?

The main symptoms of the syndrome, in infants especially, include low muscle tone as well as difficulties with feeding.

Developmental delay, intellectual disability and autism spectrum disorder are also associated with the syndrome.

Affected individuals may also have joint contractures- this usually involves permanently bent or permanently straightened joints in the finger. This can also affect the knees and elbows too.

Possible clinical traits/features:
Hypogonadism, Polyphagia, Global developmental delay, Short stature, Autosomal dominant inheritance, Seizure, Obesity, Open mouth, Micropenis, Neonatal hypotonia, Narrow forehead, Narrow palm, Myopia, Intellectual disability, Cryptorchidism, Flexion contracture, Coarse facial features, Constipation, Feeding difficulties in infancy, Failure to thrive in infancy, Esotropia, Sleep apnea, Small hand

Wie wird jemand getestet? Schaaf-Yang syndrome?

The initial testing for Schaaf-Yang syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Medizinische Informationen zu Schaaf-Yang syndrome

Schaaf et al. (2013) reported four individuals with truncating mutations on the paternal allele of the MAGEL2 gene. Patients had a Prader-Willi-like phenotype. Joint contractures occurred in one. MAGEL2 is a maternally imprinted gene; therefore the disorder occurs only if the mutation is present on the paternal allele.

Fountain et al. (2017) described 18 individuals with pathogenic variants in MAGEL2 gene. All patients presented with neonatal hypotonia, feeding difficulties, developmental delay, and mild to severe intellectual disability. Behavior abnormalities included impulsive, compulsive, stubborn, manipulative behaviours, habitual skin picking and automutilation of varying severity. Facial dysmorphism included abnormal philtrum, ears, frontal bossing, bushy eyebrows, short palpebral fissures, and prognathism. Skeletal abnormalities were short stature, short hands and feet, scoliosis or kyphosis, tapering fingers, clinodactyly, camptodactyly, brachydactyly, adducted thumbs and joint contractures (ranging from interphalangeal joints only to fetal akinesia with severe arthrogryposis). Sleep abnormalities and apnea were common. Cryptorchidism and/or micropenis was present in most of the male patients. Eye abnormalities included strabismus, esotropia, and myopia.

Two siblings and an unrelated patient with heterozygous frameshift mutations in the MAGEL2 gene were reported by Enya et. al. (2018). Novel features included hypogonadism, panhypopituitarism, and central diabetes insipidus.

Kleinendorst et al. (2018) reported an infant with who died due to hypotonia, sleep apnea, and obesity.



Matuszewska et. al., (2018) reported two patients One individual had persistent apnea.

* This information is courtesy of the L M D.
If you find a mistake or would like to contribute additional information, please email us at: [email protected]

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