Microcephalic Osteodysplastic Primordial Dwarfism 1

Was ist Microcephalic Osteodysplastic Primordial Dwarfism 1?

It is a rare genetic syndrome defined by specific features. These include restricted growth, a very small head, abnormal bone development and growth, unique facial features and brain abnormalities. Life expectancy with the syndrome is low, with most affected individuals not surviving their first year of life.

This syndrome is also known as:
Brachymelic Primordial Dwarfism Cephalo-skeletal dysplasia Low-birth-weight Dwarfism With Skeletal Dysplasia Microcephalic osteodysplastic primordial dwarfism type I Mopd I; Mopd Osteodysplastic Primordial Dwarfism, Type I Taybi-linder Syndrome; Tals

Was Genveränderungen verursachen Microcephalic Osteodysplastic Primordial Dwarfism 1?

Changes to the RNU4ATAC gene are responsible for causing the syndrome.

The syndrome is inherited in an autosomal recessive pattern.

Possible clinical traits/features:
Gray matter heterotopia, Hip contracture, Short humerus, Hyperkeratosis, Hypoplasia of the frontal lobes, Hypoplastic ilia, Prominent occiput, Autosomal recessive inheritance, Pachygyria, Seizure, Sparse eyelashes, Single transverse palmar crease, Small anterior fontanelle, Renal cyst, Short neck, Oligohydramnios, Renal hypoplasia, Platyspondyly, Long clavicles, Low-set ears, Sloping forehead, 11 pairs of ribs, Prolonged neonatal jaundice, Long foot, Large hands, Knee flexion contracture, Micrognathia, Microtia, Micromelia, Micropenis, Intellectual disability, Intrauterine growth retardation, Atrial septal defect, Bowed humerus, Abnormality of the pinna, Agenesis of cerebellar vermis, Absent knee epiphyses, Cryptorchidism, Elbow dislocation, Elbow flexion contracture, Enlarged metaphyses, Prominent nose, Hip dislocation, Brachydactyly, Femoral bowing, Failure to thrive, Delayed skeletal maturation, Dry skin, Agenesis of corpus callosum, Coarctation of aorta, Cleft vertebral arch, Short metacarpal

Was sind die wichtigsten symptome von Microcephalic Osteodysplastic Primordial Dwarfism 1?

The main symptoms of the syndrome are related to restricted growth development. These include a low birth weight, short limbs and a small head size.

Unique facial features of the syndrome include a sloping forehead, protruding ears, prominent nose, flat nasal bridge and a small jaw.

Other physical features of the syndrome include sparse hair and eyebrows, dry skin, hip or elbow dislocation.

Intellectual disability is also a symptom of the syndrome, as are specific brain anomalies, including lissencephaly, the underdevelopment of the frontal lobes of the brain and a condition that affects the development of the nerve tissue that connects the two halves of the brain's cerebellum.

Wie wird jemand getestet? Microcephalic Osteodysplastic Primordial Dwarfism 1?

Die ersten Tests für Microcephalic Osteodysplastic Primordial Dwarfism 1 kann mit einem Gesichtsanalyse-Screening beginnen, durch die FDNA Telehealth Telegenetik-Plattform, die die Schlüsselmarker der syndrom und skizzieren Sie die Notwendigkeit weiterer Tests. Es folgt ein Beratungsgespräch mit einem genetischen Berater und dann einem Genetiker. 

Basierend auf dieser klinischen Konsultation mit einem Genetiker werden die verschiedenen Optionen für Gentests geteilt und die Zustimmung für weitere Tests eingeholt.

Medizinische Informationen zu Microcephalic Osteodysplastic Primordial Dwarfism 1

This syndrome was first described by Majewski et al., (1982) who subdivided similar cases into types I, II and III. Winter et al., (1985) argued that types I and III may reflect the appearance of the same condition at different ages. This suggestion has been backed up by subsequent reports (Haan et al., 1989; Maroteaux et al., 1990; Meinecke et al., 1991). The latter authors reported affected sibs. Likewise the case reported by Boscherini et al., (1996) might represent type I or type III osteodysplastic primordial dwarfism.
The main features are low birth-weight dwarfism, extreme microcephaly, a prominent nose and eyes, sparse scalp hair, a short neck, short limbs with dislocation of the elbows and hips, relatively broad hands and feet and dry hyperkeratotic skin. Radiographs reveal shortening and bowing of the humeri and femora in type I and elongated clavicles, cleft cervical arches, lumbar platyspondyly, hypoplastic iliac wings and a horizontal acetabulum in type III. The sibs reported by Taybi and Linder (1967) may have had the same condition. Vichi et al., (2001) report two further cases with the ""Taybi-Linder"" phenotype and discuss the overlap between osteodysplastic primordial dwarfism types I and III and Taybi-Linder syndrome. The inheritance pattern is likely to be autosomal rcessive.
Eason et al., (1995) reported a possible case with a generalized renal tubular leak leading to hypokalaemia, hyponatraemia, hypocalcaemia, and hypophosphataemia. The baby died of a chest infection at 5 months. Berger et al., (1998) reported a case with neonatal cholestasis and focal medullary dysplasia of the kidneys. The case reported by Corsello et al., (1996) possibly falls into this group. She was five-years-old and had some evidence of craniosynostosis with shortened vertebral bodies. The CT scan findings of this case were reported by Costello and Giuffre (1998). they showed abscence of the frontal sulci and a trigonocephalic skull shape. Lissencephaly and neuronal migration defects are a part of this condition (Klinge et al., 2002).
Sigaudy et al., (1998) reported four further cases and provide a good review. The disorder was localised at 2q14.2-q14.3 (Leutenegger et al., 2006). Mutations have been found in RNU4ATAC (Heli et al., 2011. He et al., 2011, Edery et al., 2011). The 3 patients (with mutations) reported by Abdel-Salam et al., (2012) had milder neurological features, but a later report (Abdel-Salem et al., 2013) found further patients with gyration abnormalities, malformations of the callosal body and an interhemispheric cyst.
Two sibs were reported by Kroigard et al., (2016) who had RNU4ATAC mutations who were surviving into early adulthood. The clinical picture was relatively mild, but both had deafness, tapeto-retinal deterioration and cataracts.

Kroigarda et al. (2016) described two adult siblings with atypical mild MOPD1 syndrome. The patients were compound heterozygotes for a missense and a duplication mutation in the RNU4ATAC gene. Both patients presented with prenatal and postnatal growth retardation, microcephaly, developmental delay, intellectual disability, bilateral cataracts and tapetoretinal degeneration, progressive sensorineural hearing loss, dysmorphic features, dental problems (malocclusion, crowded teeth, microdontia and enamel abnormalities), atopic dermatitis, allergies and asthma in childhood, dry skin and short, broad and tapering fingers. Facial features differed between patients and included receding forehead, large prominent eyes, arched eyebrows, hypoplasia of the ala nasi, bulbous nose, micrognathia, thin hair, small low-set ears, full lips and short neck. The girl also had neonatal hypoglycaemia, broad and short toes, dystrophic nails and slight kyphosis. The boy’s additional features included cryptorchidism, flat feet and syndactyly of the second and third toes. Radiological examination of the long bones revealed generalized shortening with metaphyseal broadening in both patients and also a delayed bone age in the girl. Cranial MRI of the girl showed partial agenesis of corpus callosum and general atrophy.

* This information is courtesy of the L M D.
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