Primrose syndrome (PRIMS)

What is Primrose syndrome?

Primrose syndrome is a rare genetic syndrome first identified in 1982. There are currently less than 12 cases reported worldwide. A hardening of the outer ear, unique facial features, and intellectual disability are defining symptoms of the syndrome. The syndrome is progressive meaning symptoms worsen or develop in their severity over time.

This syndrome is also known as:
Ossified Ear Cartilages with Mental Deficiency, Muscle Wasting, and Bony Changes

What gene changes cause Primrose syndrome?

Mutations in the ZBTB20 gene are responsible for some of the reported cases of the syndrome. The rest of the cases were the result of de novo or new mutations.

What are the main symptoms of Primrose syndrome?

Unique facial features of the syndrome include a hardening of the outer ear, a large head, and facial features prescribed as dysmorphic, meaning they appear different from normal.

Sparse hair is another physical feature of the syndrome. As is progressive muscle wasting.

In some cases, diabetes is a possible symptom, as is a taller height and larger weight.

Possible clinical traits/features:
Short stature, Hearing impairment, Cognitive impairment, Gynecomastia, Kyphosis, Short distal phalanx of finger, Genu valgum, Basilar impression, Gait disturbance, Hypoplasia of the corpus callosum, Hip contracture, Broad forehead, Hydrocephalus, Hypoplasia of the maxilla, Neurodegeneration, Narrow iliac wings, Narrow chest, Intellectual disability, Muscular hypotonia, Myopathy, Abnormal form of the vertebral bodies, Metatarsus adductus, Pectus excavatum, Macrotia, Irregular vertebral endplates, Knee flexion contracture, Downslanted palpebral fissures, Conductive hearing impairment, Deeply set eye, Developmental regression, Distal amyotrophy, Anemia, Malar flattening, Scoliosis, Truncal obesity, Sporadic, Macrocephaly, Thick lower lip vermilion, Superiorly displaced ears, Midface retrusion, Synophrys, Ptosis, Osteolysis, Posterior polar cataract, Posterior scalloping of vertebral bodies, Plagiocephaly, Pes cavus, Osteoporosis, Seizure, Cataract, Calcification of the auricular cartilage, Brachycephaly.

How is it diagnosed?

To find out if someone has a diagnosis of Primrose 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.

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