Microcephalic Osteodysplastic Primordial Dwarfism 2

Was ist Microcephalic Osteodysplastic Primordial Dwarfism 2?

It is a rare genetic syndrome. Dwarfism, an exceptionally short stature, skeletal abnormalities and a small head characterize the syndrome. These symptoms begin before birth.

This syndrome is also known as:
Majewski osteodysplastic primordial dwarfism Microcephalic osteodysplastic primordial dwarfism type II Mopd Ii Osteodysplastic Primordial Dwarfism, Type II

Was Genveränderungen verursachen Microcephalic Osteodysplastic Primordial Dwarfism 2?

Veränderungen im PCNT-Gen sind für die Auslösung des Syndroms verantwortlich.

Das Syndrom wird autosomal-rezessiv vererbt.

Was sind die wichtigsten symptome von Microcephalic Osteodysplastic Primordial Dwarfism 2?

The main symptoms of the syndrome are dwarfism, a very short stature, and a very small head. This delayed and restricted growth can usually be identified before birth. This also leads to the development of a smaller brain size although this does not affect intellectual development.

Skeletal abnormalities associated with the syndrome include scoliosis (curving of the spine), hip dysplasia (affecting the joints in the hip), shorter wrist bones and a thinking of the bones found in the arms and legs.

Unique facial features of the syndrome include a prominent nose, full cheeks, a long midface, a small jaw, small teeth and farsightedness. Some individuals also develop lighter or darker skin coloring.

Blood vessel abnormalities are common with the syndrome. This can include a bulge in one of the blood vessels found at the center of the brain. Known as aneurysms these can be dangerous if they burst and cause bleeding within the brain. Some individuals are affected by Moyamoya disease where the arteries found at the base of the brain are narrower than they should be, this in turn can restrict blood flow. While treatable these symptoms can increase the risk of stroke in affected individuals.

Possible clinical traits/features:
Upslanted palpebral fissure, Sparse scalp hair, Radial bowing, Ulnar bowing, Slender long bone, Tracheal stenosis, Scoliosis, Tibial bowing, Reduced number of teeth, Moyamoya phenomenon, Pseudoepiphyses of the metacarpals, Truncal obesity, Recurrent respiratory infections, Type II diabetes mellitus, Proximal femoral epiphysiolysis, Thin clavicles, Microcephaly, Disproportionate short stature, Intrauterine growth retardation, Intellectual disability, Abnormality of female external genitalia, Straight clavicles, Sloping forehead, Long clavicles, Low-set, posteriorly rotated ears, Micromelia, Microdontia, Micrognathia, Microtia, Narrow pelvis bone, Narrow chest, Limited elbow extension, Joint hypermobility, Laryngomalacia, Ivory epiphyses, Full cheeks, Short distal phalanx of finger, Hypermetropia, Prominent nasal bridge, High pitched voice, Cognitive impairment, Global developmental delay, Postnatal growth retardation, Hypoplastic iliac wing, Underdeveloped nasal alae, Hypoplastic scapulae, Short middle phalanx

Wie wird jemand getestet? Microcephalic Osteodysplastic Primordial Dwarfism 2?

Die ersten Tests für Microcephalic Osteodysplastic Primordial Dwarfism 2 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 2

This form of microcephalic primordial dwarfism somewhat resembles Seckel syndrome, but there are important clinical and radiological differences. There is severe pre- and post-natal growth retardation, microcephaly, a small forehead, a prominent nose, micrognathia and mental retardation. Limb shortening is mesomelic. Radiographs show short 1st metacarpals, short middle phalanges, short, curved, forearm bones, a V-shaped flare of the distal femoral metaphyses, coxa vara with a fragmented and flattened proximal femoral epiphysis, triangular distal femoral epiphyses, a high and narrow pelvis and pseudoepiphyses of the hands. The inheritance is uncertain, although one pair of possibly affected sibs and parental consanguinity have been reported (Verloes et al., 1987; Shebib et al., 1991). Herman et al., (1991) and Al Gazali et al., (1995) reported further cases and provide good reviews of the radiological features.
Masuno et al., (1995) reported a case with some features of the condition. However mesomelic shortening was seen in the legs but not in the arms, the pelvis was broad and not narrow, and there was no evidence of coxa vara or cupping of the distal femoral metaphyses.
Lin et al., (1995) reported two brothers with the radiological features of the condition and microdontia. They pointed out that the cases reported by Majewski et al., (1982) and Shebib et al., (1991) had similar tooth abnormalities.
Spranger et al., (1996) reported a case with some unusual features. These included bilateral knee dislocation, breathing difficulties due to a microlarynx and misplaced upper lobe bronchus, severe undermineralisation of the skull and partial agenesis of the corpus callosum. Further cases were reported by Halder et al., (1998) and Majewski and Goecke (1998). The case reported by Halder et al., (1998) had normal intelligence but delayed central nervous system myelination with mild dilatation of the lateral ventricles at four years. The case reported by Ozawa et al., (2005) had pachygyria.
Faivre et al., (2002) studied two consanguineous families and could not find linkage to the Seckel loci on 3q or 18p.
Nishimura et al (2003) reported a case associated with cafe-au-lait spots and moyamoya disease. Young et al., (2004), reported another child with this combination. There were in addition hypopigmented patches. The patient reported by Kanna et al., (2004) had cafe-au-lait spots and cutis marmorata. Four patients reported by Bober et al., (2010) had neurovascular complications. One had coronary artery abnormalities.
There is an excellent, comprehensive review of the condition by Hall et al., (2004). In a follow-up of cases, these authors note the occurrence of CNS haemorrhage, strokes and moyamoya disease. This was again commented on by Brancati et al., (2005) who reported a patient with a stroke at 2 -3 years of age. Dieks et al., (2014) reported a case with intracranial aneurysms.
The condition has now been mapped to 21q22 and mutations have been found in pericentrin (PCNT) - Rauch et al., (2008). An absence of PCNT results in disorganized mitotic spindles and missegregation of chromosomes (Rauch et al., 2008).
Some cases, previously diagnosed as having Seckel, have been reclassified as having Majewski osteodysplastic primordial dwarfism (Piane et al., 2009, Willems et al., 2010). Both can be caused by PCNT mutations. In the Willems et al., (2010) report, all cases diagnosed clinically thith MOPD II had mutations whereas 5 out of 16 of those clinically said to have Seckel had mutations.

* This information is courtesy of the L M D.
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