What is Peters plus syndrome?
Peters plus syndrome, also referred to as Krause-Kivlin syndrome, is a rare genetic disorder that can impact various parts of the body, with the eyes being the most commonly affected area.
This syndrome is also known as:
Krause-kivlin Syndrome; Krause-Van Schooneveld-Kivlin syndrome; Peters Anomaly with Short-limb Dwarfism; Peters’ anomaly-cleft lip and palate-mental retardation-ear anomalies; Peters’ plus Peters’-plus
What gene changes cause Peters plus syndrome?
Changes in the B3GLCT gene which stop it from working properly are responsible for causing the syndrome.
It is inherited in an autosomal recessive pattern.
What are the main symptoms of Peters plus syndrome?
The main symptom of the syndrome is known as Peters anomaly. This causes abnormalities in the structures in the front of the eye.
Other main symptoms include growth delay and restricted growth as well as shorter limbs than normal.
Unique facial features include an extended face, a long philtrum, and a cupid bow-shaped lip. Most individuals also have a cleft lip and or palate.
Intellectual disability and developmental delay are also common with the syndrome.
Syndromes may vary widely between individuals in terms of their presence and severity.
Possible clinical traits/features:
Upslanted palpebral fissure, Frontal bossing, Prominent forehead, Ptosis, Renal hypoplasia/aplasia, Wide intermamillary distance, Square pelvis bone, Spina bifida occulta, Scoliosis, Ventricular septal defect, Umbilical hernia, Pulmonic stenosis, Short metatarsal, Short metacarpal, Proximal placement of thumb, Short palm, Macrocephaly, Thin upper lip vermilion, Urogenital fistula, Microcephaly, Round face, Facial hypertrichosis, Feeding difficulties in infancy, Exaggerated cupid’s bow, Conductive hearing impairment, Agenesis of corpus callosum, Craniosynostosis, Decreased body weight, Microcornea, Cryptorchidism, Cleft upper lip, Clitoral hypoplasia, Clinodactyly of the 5th finger, Conical incisor, Ventriculomegaly, Diastasis recti, Displacement of the urethral meatus, Brachydactyly, Long philtrum, Low-set, posteriorly rotated ears, Short nose, Myopia, Anteverted nares, Intestinal fistula, Intrauterine growth retardation, Intellectual disability, progressive, Abnormal morphology of female internal genitalia.
How is it diagnosed?
To find out if someone has a diagnosis of Peters plus syndrome, 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.
