Microcephalic Osteodysplastic Primordial Dwarfism 1 (MOPD1)

What is Microcephalic Osteodysplastic Primordial Dwarfism 1 (MOPD1)?

Microcephalic Osteodysplastic Primordial Dwarfism 1 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; Microcephalic osteodysplastic primordial dwarfism, Caroline Crachami Type

What gene changes cause Microcephalic Osteodysplastic Primordial Dwarfism 1 (MOPD1)?

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.

What are the main symptoms of Microcephalic Osteodysplastic Primordial Dwarfism 1 (MOPD1)?

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, a prominent nose, flat nasal bridge, and a small jaw.

Other physical features of the syndrome include sparse hair and eyebrows, dry skin, and 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.

How is it diagnosed?

To find out if someone has a diagnosis of Microcephalic Osteodysplastic Primordial Dwarfism 1 (MOPD1), it is important to have a consultation and evaluation with a clinical genetic specialist.  Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis.  FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.

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