Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type (MRXSN)

What is Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type (MRXSN)?

Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type is a rare genetic syndrome that presents with intellectual disability, significant speech impairment, and unique facial features. It affects males and females differently due to the way in which it is inherited. Females generally do not experience intellectual disability but may have slight facial features characteristic of the syndrome.

This syndrome is also known as:
Mental Retardation, X-linked, Syndromic 30; MRXS30 Nascimento syndrome

What gene changes cause Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type (MRXSN)?

Changes in the UBE2A gene are responsible for causing the syndrome.

It is inherited in an X-linked recessive pattern which explains why the symptoms are less severe in females than males.

What are the main symptoms of intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type (MRXSN)?

The main symptoms of the syndrome include intellectual disability, and in particular significant speech and language impairments.

Unique facial features of the syndrome include a large head, deep-set eyes, large ears, a wide mouth with downward-turned lip corners, a short neck, and a low hairline. Other physical features of the syndrome include excessive hair growth over the body, widely spaced nipples, dry skin or spots on the skin that are hyperpigmented, a micropenis, obesity, and seizures.

Possible clinical traits/features:
Broad hallux, Broad neck, Broad face, Nail dysplasia, Almond-shaped palpebral fissure, Aggressive behavior, Low posterior hairline, Abnormal hair whorl, Increased body weight, Micropenis, Intellectual disability, Seizure, Poor speech, Pes planus, Prominent supraorbital ridges, Short neck, Wide mouth, Thin vermilion border, Macrocephaly, Midface retrusion, Upslanted palpebral fissure, Synophrys, X-linked recessive inheritance, Regional abnormality of skin, Spotty hypopigmentation, Wide intermamillary distance, Malar flattening, Deeply set eye, Nail dystrophy, Echolalia, Dry skin, Downturned corners of mouth, Short foot, Hypointensity of cerebral white matter on MRI, Hirsutism, Depressed nasal bridge.

How is it diagnosed?

To find out if someone has a diagnosis of Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type (MRXSN), it is important to have a consultation and evaluation with a clinical genetic specialist.  Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis.  FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.

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