What is Renpenning Syndrome 1?
It is a rare genetic syndrome that affects mainly males. It causes developmental delay, intellectual disability and distinct facial and physical features that characterize the syndrome.
Currently the syndrome has been diagnosed in more than 60 individuals in just 15 families worldwide.
This syndrome is also known as:
Golabi-Ito-Hall Syndrome; Mental Retardation, X-linked 55; MRX55; Mental Retardation, X-linked, Renpenning Type; Mental Retardation, X-linked, Syndromic 3; MRXS3; Mental Retardation, X-linked, Syndromic 8; MRXS8; Mental Retardation, X-linked, with Spastic Diplegia; Sutherland-Haan X-linked Mental Retardation Syndrome; SHS
What gene changes cause Renpenning Syndrome 1?
Mutations in the PQBP1 gene are responsible for causing the syndrome.
It is inherited in an X-linked recessive pattern. This makes it much more common in males. Males have just one X chromosome, and need just one mutated copy of the gene to be affected by the syndrome. For females, this mutation would have to be present on both copies of their X chromosome, an event that is very unlikely. Most females are only carriers for the syndromes, as fathers affected can not pass it on to their sons.
What are the main symptoms of Renpenning Syndrome 1?
Unique facial features are one of the main symptoms of the syndrome. These features include a short stature, small head, long and narrow face, a long and bulbous nose, a short philtrum and ears that are cup shaped.
Individuals with certain features of the syndrome were often diagnosed with Golabi-Ito-Hall or Sutherland-Haan syndrome. However these rare diseases all have the same genetic cause and are now diagnosed under Renpenning syndrome.
Symptoms may also affect the skeletal muscles, specifically a wasting away. Individuals with the syndrome may also suffer from seizures.
Underdeveloped testes are also a common symptom that presents with the disease.
Possible clinical traits/features:
Macrotia, Iris coloboma, Sparse lateral eyebrow, Joint contracture of the hand, Macrodontia, Long face, Narrow face, Abdominal situs inversus, Abnormality of hair texture, Abnormal nasal morphology, Intellectual disability, Mandibular prognathia, Pectus excavatum, Micrognathia, Microphthalmia, Narrow foot, Narrow mouth, Protruding ear, Phimosis, Poor suck, Renal hypoplasia, Sensorineural hearing impairment, Seizure, Pes cavus, Nasal speech, Hypermetropia, Hypertonia, Hyperreflexia, Short stature, Hearing impairment, Cognitive impairment, Hypospadias, Hypoplasia of the zygomatic bone, High palate, Wide nasal bridge, Bulbous nose, Brachycephaly, Cataract, Aplasia/Hypoplasia of the eyebrow, Atrial septal defect, Blindness, Anal atresia, Skeletal muscle atrophy, Anxiety, Abnormal thumb morphology, Abnormal testis morphology, Abnormality of the rib cage, Cleft palate, Cerebral atrophy, Abnormality of calvarial morphology, Epicanthus, Decreased testicular size, Malar flattening, Limitation of joint mobility.
How is Renpenning Syndrome 1 diagnosed?
To find out if someone has a diagnosis of Renpenning syndrome 1, 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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