What is Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type (MRXSC)?
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type is a syndrome characterized by intellectual disability and developmental delay.
This syndrome is also known as:
Cabezas Syndrome Mental Retardation, X-linked, Syndromic 15; MRXS15 Mental Retardation, X-linked, with Short Stature, Hypogonadism, and Abnormal Gait; Mental Retardation, X-linked, with Short Stature; MRSS
What gene changes cause Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type (MRXSC)?
The syndrome is caused by a mutation in the CUL4B gene. The syndrome is inherited in an X-linked recessive pattern.
Syndromes inherited in an X-linked recessive pattern generally only affect males. Males only have one X chromosome, and so one copy of a gene mutation on it causes the syndrome. Females, with two X chromosomes, only one of which will be mutated, are not likely to be affected.
What are the main symptoms of Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type (MRXSC)?
Key symptoms of the syndrome include intellectual disability and developmental delay, with speech and language being significantly impacted. Hyperactivity is another common characteristic associated with the condition.
Physical features of the syndrome include an abnormal hair pattern and distribution of hair, a large head, permanent curving of the pinkie finger, rounded shoulders, a big nose, a broad mouth, and a short neck. In males, a short stature is also a common feature. Some individuals also present with truncal obesity.
Some individuals suffer from seizures and tremors as well.
Possible clinical traits/features:
Short stature, Short toe, Short foot, Hypogonadism, Kyphosis, Hypospadias, Hyperactivity, Hernia of the abdominal wall, Hyperhidrosis, Gait disturbance, Acanthosis nigricans, Gait ataxia, Gynecomastia, Cognitive impairment, Coarse facial features, Everted lower lip vermilion, Brachydactyly, Cryptorchidism, Decreased body weight, Decreased testicular size, Delayed puberty, Macroglossia, Micropenis, Neurological speech impairment, Abnormality of immune system physiology, Intellectual disability, Tremor, Mood swings, Muscular hypotonia, Joint laxity, Joint hypermobility, Absent speech, Blepharophimosis, Abnormal testis morphology, X-linked recessive inheritance, Relative macrocephaly, Sandal gap, Truncal obesity, Macrocephaly, Thick lower lip vermilion, Abdominal obesity, Pes cavus, Toe syndactyly, Pes planus, Seizure, Striae distensae, Wide mouth.
How does someone get tested?
To find out if someone has a diagnosis of Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type (MRXSC), 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.
