Microcephalic osteodysplastic primordial dwarfism type II

Other names: Majewski osteodysplastic primordial dwarfism type II
Microcephalic osteodysplastic primordial dwarfism type II is inherited in an autosomal recessive manner

Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a form of dwarfism associated with brain and skeletal abnormalities. It was characterized in 1982.[1]

MOPD II is listed as a rare disease by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This indicates that MOPD (or a subtype of MOPD) affects less than 200,000 people in the US population.

It is associated with the protein pericentrin (PCNT).[2]Notable persons with MOPD II Lucia Zarate, sideshow entertainer

Individual age 5 ulnar deviation of hands

## See also[edit | edit source]

* Primordial dwarfism

## References[edit | edit source]

1. ↑ Majewski F, Ranke M, Schinzel A (May 1982). "Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism". Am. J. Med. Genet. 12 (1): 23–35. doi:10.1002/ajmg.1320120104. PMID 7201238.
2. ↑ Rauch A, Thiel CT, Schindler D, et al. (February 2008). "Mutations in the pericentrin (PCNT) gene cause primordial dwarfism". Science. 319 (5864): 816–9. doi:10.1126/science.1151174. PMID 18174396.

## External links[edit | edit source]

Classification|

* ICD-10: Q87.1
* OMIM: 210720

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External resources|

* Orphanet: 2937

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* t
* e

Cytoskeletal defects

Microfilaments|

| Myofilament|

| Actin|

* Hypertrophic cardiomyopathy 11
* Dilated cardiomyopathy 1AA
* DFNA20
* Nemaline myopathy 3

|

Myosin|

* Elejalde syndrome
* Hypertrophic cardiomyopathy 1, 8, 10
* Usher syndrome 1B
* Freeman–Sheldon syndrome
* DFN A3, 4, 11, 17, 22; B2, 30, 37, 48
* May–Hegglin anomaly

Troponin|

* Hypertrophic cardiomyopathy 7, 2
* Nemaline myopathy 4, 5

Tropomyosin|

* Hypertrophic cardiomyopathy 3
* Nemaline myopathy 1

Titin|

* Hypertrophic cardiomyopathy 9

Other|

* Fibrillin
* Marfan syndrome
* Weill–Marchesani syndrome
* Filamin
* FG syndrome 2
* Boomerang dysplasia
* Larsen syndrome
* Terminal osseous dysplasia with pigmentary defects

IF|

| 1/2|

* Keratinopathy (keratosis, keratoderma, hyperkeratosis): KRT1
* Striate palmoplantar keratoderma 3
* Epidermolytic hyperkeratosis
* IHCM
* KRT2E (Ichthyosis bullosa of Siemens)
* KRT3 (Meesmann juvenile epithelial corneal dystrophy)
* KRT4 (White sponge nevus)
* KRT5 (Epidermolysis bullosa simplex)
* KRT8 (Familial cirrhosis)
* KRT10 (Epidermolytic hyperkeratosis)
* KRT12 (Meesmann juvenile epithelial corneal dystrophy)
* KRT13 (White sponge nevus)
* KRT14 (Epidermolysis bullosa simplex)
* KRT17 (Steatocystoma multiplex)
* KRT18 (Familial cirrhosis)
* KRT81/KRT83/KRT86 (Monilethrix)
* Naegeli–Franceschetti–Jadassohn syndrome
* Reticular pigmented anomaly of the flexures

|

* Desmin: Desmin-related myofibrillar myopathy
* Dilated cardiomyopathy 1I

* GFAP: Alexander disease

* Peripherin: Amyotrophic lateral sclerosis

* Neurofilament: Parkinson's disease
* Charcot–Marie–Tooth disease 1F, 2E
* Amyotrophic lateral sclerosis

* Laminopathy: LMNA
* Mandibuloacral dysplasia
* Dunnigan Familial partial lipodystrophy
* Emery–Dreifuss muscular dystrophy 2
* Limb-girdle muscular dystrophy 1B
* Charcot–Marie–Tooth disease 2B1
* LMNB
* Barraquer–Simons syndrome
* LEMD3
* Buschke–Ollendorff syndrome
* Osteopoikilosis
* LBR
* Pelger–Huet anomaly
* Hydrops-ectopic calcification-moth-eaten skeletal dysplasia

Microtubules|

| Kinesin|

* Charcot–Marie–Tooth disease 2A
* Hereditary spastic paraplegia 10

|

Dynein|

* Primary ciliary dyskinesia
* Short rib-polydactyly syndrome 3
* Asphyxiating thoracic dysplasia 3

Other|

* Tauopathy
* Cavernous venous malformation

Membrane|

* Spectrin: Spinocerebellar ataxia 5
* Hereditary spherocytosis 2, 3
* Hereditary elliptocytosis 2, 3

Ankyrin: Long QT syndrome 4

* Hereditary spherocytosis 1

Catenin|

* APC
* Gardner's syndrome
* Familial adenomatous polyposis
* plakoglobin (Naxos syndrome)
* GAN (Giant axonal neuropathy)

Other|

* desmoplakin: Striate palmoplantar keratoderma 2
* Carvajal syndrome
* Arrhythmogenic right ventricular dysplasia 8

* plectin: Epidermolysis bullosa simplex with muscular dystrophy
* Epidermolysis bullosa simplex of Ogna

* plakophilin: Skin fragility syndrome
* Arrhythmogenic right ventricular dysplasia 9

* centrosome: PCNT (Microcephalic osteodysplastic primordial dwarfism type II)

Related topics: Cytoskeletal proteins
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