Primrose syndrome

Qu'est-ce que Primrose syndrome?

It 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

Quelles sont les causes des changements génétiques Primrose syndrome?

Des mutations du gène ZBTB20 sont responsables de certains des cas signalés de syndrome. Les autres cas étaient le résultat de mutations de novo ou de nouvelles mutations.

Quels sont les principaux symptômes de 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 to normal.

Sparse hair is another physical feature of the syndrome. As is progressie 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

Comment quelqu'un se fait-il tester pour Primrose syndrome?

Les premiers tests de Primrose syndrome peut commencer par un dépistage par analyse faciale, en passant par le FDNA Telehealth plateforme de télégénétique, qui permet d'identifier les marqueurs clés de la syndrome et souligner la nécessité de tests supplémentaires. Une consultation avec un conseiller génétique puis un généticien suivra. 

Sur la base de cette consultation clinique avec un généticien, les différentes options pour les tests génétiques seront partagées et le consentement sera recherché pour des tests supplémentaires.

Informations médicales sur Primrose syndrome

Primrose (1982) described a 33-year-old male with severe mental retardation, hydrocephaly, posterior polar cataracts, muscle wasting and calcification of the ear pinnae. The muscles of the hands were particularly wasted and there were joint contractures; both these features were progressive. Radiographs revealed cystic areas of the heads of the humeri and upper femora. Collacott et al., (1986) reported a further case.
Lindor et al., (1996) reported a further case. They emphasise the possibility that there may be progressive neurodegeneration in this disorder. They also emphasise the peripheral muscle wasting. They provide a good review of the causes of calcification of the external ears.
Mathijssen et al., (2006) reported a further case, who at a young age developed a germ cell tumour of the testis. In addition, he had sparse body hair, a torus palatinus, but no cataract. These authors sum up the clinical position to date. Carvalho and Speck-Martins (2011), reported another case with typical features. In addition, there were thin, dystrophic nails. The case reported by Posmyk et al., (2011) had, in addition, hypergonadotrophic hypogonadism, progressive osteoporosis and flecks of intracranial calcification.
Four patients were analysed by Cordeddu et al., (2014) and mutations were found in ZBTB20 which has a role in neurogenesis, glucose metabolism and post-natal growth.
Casertano et al., (2016) described two female patients from unrelated families with Primrose syndrome and de novo mutations in ZBTB20 gene. The first patient was born after pregnancy complicated by oligohydramnios. She showed progressive failure to thrive, general hypotonia, cyanosis of the limbs and recurrent regurgitation during feeding. At six months, brain MRI showed decreased white matter volume, small corpus callosum, mild ventriculomegaly, and asymmetry of the occipital lobes. At eight months, she was found to be macrocephalic, long and overweight. She also had visual impairment and global motor developmental delay. Dysmorphic features included right preauricular tag, broad nasal bridge, prominent nasal tip, full cheeks, high arched palate, and broad neck. At 18 months scoliosis was detected and the language was absent. The second patient had generalized hypotonia in infancy. At seven months, brain MRI demonstrated a partial absence of the posterior corpus callosum. Ophthalmologic examination showed hypermetropia and astigmatism. At 30 months she was tall, overweight and macrocephalic. Facial dysmorphism included prominent frontal bossing, high forehead, sunken eyes, down-slanting palpebral fissures, depressed nasal bridge, relative microstomia and high arched palate. She showed joint laxity, body asymmetry, genu valgum, and flat foot. Neurological examination identified a delay in gross motor skill and ambulation, absent language, lack of eye contact, and attention deficit disorder. Auditory brainstem response displayed a mild, bilateral hearing loss. Radiological investigation showed delayed bone age. Brain MRI showed hyperintensity of the peritrigonal white matter, compatible with dysmyelination. Over time, her habitus showed progressive lipodystrophy and muscular wasting with central adiposity and limbs atrophy. At age 7.5 abdominal ultrasound showed enlarged liver and kidney. At age 10 years, she developed progressive self-destructive behaviour and irritability and was diagnosed with autism spectrum disorder. Finally, she developed Cushing syndrome-like phenotype. Both patients shared similar metabolic profile, they had high levels of AFP, 3-OH butyric acid, indicating a state of ketosis, and increased levels of ethylmalonic acid in association with dicarboxylic acids, like adipic and suberic acids. In addition, second patient had impaired glucose tolerance.
One fetus and two patients with heterozygous missense mutations in the ZBTB20 gene were found by Alby et al., (2018) in a cohort of 64 fetuses and 34 patients with corpus callosum abnormalities. Clinical characteristics included macrocephaly, agenesis of corpus callosum, ntellectual disability and sensorineural hearing loss. Dysmorphic features were hypertelorism, wide nasal bridge, and hirsutism.

* This information is courtesy of the L M D.
If you find a mistake or would like to contribute additional information, please email us at: [email protected]

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