Microcephalic Osteodysplastic Primordial Dwarfism, Type II

Alternative Names

MOPD II
MOPD2
Osteodysplastic Primordial Dwarfism, Type II
Majewski Osteodysplastic Primordial Dwarfism, Type II

Associated Genes

Pericentrin

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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

210720

Mode of Inheritance

Autosomal recessive

Gene Map Locus

21q22.3

Description

Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II) is an autosomal recessive disorder characterized by prenatal growth retardation, microcephaly, skeletal dysplasia, short stature, and neurologic abnormalities. Dysmorphic facial features observed in MOPD II patients include: a prominent nose, slanting of the palpebral fissure, mildly dysplastic ears, and abnormal dentition. Patients often develop far-sightedness, scoliosis, unusual pigmentation, truncal obesity, and type 2 diabetes with time and their life expectancy is lowered due to a high risk of cerebrovascular anomalies. MOPD II is linked to mutations in the PCNT gene.

Epidemiology in the Arab World

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Subject ID	Country	Sex	Family History	Parental Consanguinity	HPO Terms	Variant	Zygosity	Mode of Inheritance	Reference	Remarks
210720.1.1	Iraq	Male		Yes	Global developmental delay; Failure to... Global developmental delay; Failure to thrive	NM_006031.5:c.1042G>T	Homozygous	Autosomal, Recessive	Rauch et al. 2008	Patient 'P16' in the...
210720.2.1	Oman	Male		Yes	Global developmental delay; Failure to ... Global developmental delay; Failure to thrive	NM_006031.5:c.5767C>T	Homozygous	Autosomal, Recessive	Rauch et al. 2008	Patient 'P3' in the ...
210720.3.1	Oman	Female		Yes	Global developmental delay; Failure to ... Global developmental delay; Failure to thrive	NM_006031.5:c.1336C>T	Homozygous	Autosomal, Recessive	Rauch et al. 2008	Patient 'P10' in the...
210720.4.1	Palestine	Male		Yes	Global developmental delay; Failure to ... Global developmental delay; Failure to thrive; Moyamoya phenomenon	NM_006031.6:c.2984_2994del	Homozygous	Autosomal, Recessive	Rauch et al. 2008	Patient 'P14' in the...
210720.5.1	Lebanon	Female		Yes	Global developmental delay; Failure to ... Global developmental delay; Failure to thrive	NM_006031.6:c.4976_4980del	Homozygous	Autosomal, Recessive	Rauch et al. 2008	Patient 'P17' in the...
210720.6	Saudi Arabia	Male	No	Yes	Global developmental delay; Hypothyroidi... Global developmental delay; Hypothyroidism; Hypogonadism	NM_006031.6:c.2374C>T	Homozygous	Autosomal, Recessive	Shaheen et al. 2019
210720.7	Egypt	Female	No	No	Sloping forehead; Retrognathia; Sparse s... Sloping forehead; Retrognathia; Sparse scalp hair; Fair hair; Depressed nasal bridge	NM_006031.6:c.1519C>T	Homozygous	Autosomal, Recessive	Shaheen et al. 2019
210720.8	Saudi Arabia	Male	Yes	Yes	Broad forehead; Thin upper lip vermilion... Broad forehead; Thin upper lip vermilion; Retrognathia; Low posterior hairline	NM_006031.6:c.5767C>T	Homozygous	Autosomal, Recessive	Shaheen et al. 2019
210720.9.1	Saudi Arabia	Female	Yes	Yes	Intrauterine growth retardation Intrauterine growth retardation	NM_006031.6:c.5767C>T	Homozygous	Autosomal, Recessive	Shaheen et al. 2019
210720.9.2	Saudi Arabia	Male	Yes	Yes		NM_006031.6:c.5767C>T	Homozygous	Autosomal, Recessive	Shaheen et al. 2019	Sibling of 210720.9....
210720.9.3	Saudi Arabia	Male	Yes	Yes		NM_006031.6:c.5767C>T	Homozygous	Autosomal, Recessive	Shaheen et al. 2019	Sibling of 210720.9....
210720.10	Saudi Arabia	Male	No	Yes	Unilateral ptosis; Long nose; Microtia; ... Unilateral ptosis; Long nose; Microtia; Delayed ossification of carpal bones; Epicanthus	NM_006031.6:c.2812C>T	Homozygous	Autosomal, Recessive	Shaheen et al. 2019
210720.11	Egypt	Female	No	Yes	Convex nasal ridge; Clinodactyly; Deeply... Convex nasal ridge; Clinodactyly; Deeply set eye	NM_006031.6:c.4655C>A	Homozygous	Autosomal, Recessive	Shaheen et al. 2019
210720.12	Saudi Arabia	Male	Yes	Yes	Developmental regression; Failure to thr... Developmental regression; Failure to thrive; Short stature; Microcephaly; Delayed speech and language development	NM_006031.6:c.2812C>T	Homozygous	Autosomal, Recessive	Maddirevula et al. 2018
210720.13	Saudi Arabia	Male			Moderate to late preterm birth; Intraute... Moderate to late preterm birth; Intrauterine growth retardation; Delayed speech and language development; Delayed gross motor development; High pitched voice; Short stature; Truncal obesity; Diabetes mellitus	NM_006031.6:c.196G>T	Homozygous	Autosomal, Recessive	Shaheen et al. 2014