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Genetic and Rare Diseases Information Center (GARD)

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Microcephalic osteodysplastic primordial dwarfism type 1


Other Names for this Disease

  • Brachymelic primordial dwarfism
  • Cephaloskeletal dysplasia
  • Low-birth-weight dwarfism with skeletal dysplasia
  • Microcephalic osteodysplastic primordial dwarfism types 1 and 3
  • MOPD 1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1)?

Individuals with MOPD1 may have low birth weight, growth retardation, short limbs, broad hands, small head size (microcephaly), abnormal bone growth (skeletal dysplasia) and a distinct facial appearance. Facial characteristics may include a sloping forehead; protruding eyes; prominent nose with a flat nasal bridge; and small jaw (micrognathia).[1][2] In addition, babies with MOPD1 may experience short episodes of stopped breathing (apnea) and seizures.[1] Affected individuals also commonly have sparse hair and eyebrows; dry skin; dislocation of the hips or elbows; and intellectual disability.[2] Brain abnormalities that have been reported include lissencephaly, hypoplastic (underdeveloped) frontal lobes, and agenesis of the corpus callosum or cerebellar vermis (the nerve tissue that connects the two halves of the cerebellum).[2]
Last updated: 11/11/2011

The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephalic osteodysplastic primordial dwarfism type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormal form of the vertebral bodies 90%
Abnormal hair quantity 90%
Abnormal nasal morphology 90%
Abnormal vertebral ossification 90%
Abnormality of calcium-phosphate metabolism 90%
Abnormality of pelvic girdle bone morphology 90%
Abnormality of the clavicles 90%
Abnormality of the distal phalanx of finger 90%
Abnormality of the eyelashes 90%
Abnormality of the femur 90%
Abnormality of the intervertebral disk 90%
Abnormality of the metacarpal bones 90%
Abnormality of the metaphyses 90%
Abnormality of the upper urinary tract 90%
Aplasia/Hypoplasia of the eyebrow 90%
Brachydactyly syndrome 90%
Cognitive impairment 90%
Convex nasal ridge 90%
Delayed skeletal maturation 90%
Glaucoma 90%
Hypertonia 90%
Intrauterine growth retardation 90%
Large hands 90%
Low-set, posteriorly rotated ears 90%
Micrognathia 90%
Micromelia 90%
Premature birth 90%
Prominent occiput 90%
Proptosis 90%
Reduced bone mineral density 90%
Respiratory insufficiency 90%
Seizures 90%
Short neck 90%
Short stature 90%
Single transverse palmar crease 90%
Abnormality of the tragus 50%
Cheekbone underdevelopment 50%
Cleft palate 50%
Clinodactyly of the 5th finger 50%
Cryptorchidism 50%
Dolichocephaly 50%
Sloping forehead 50%
Thick lower lip vermilion 50%
Thickened nuchal skin fold 50%
11 pairs of ribs -
Abnormality of the pinna -
Absent knee epiphyses -
Agenesis of cerebellar vermis -
Agenesis of corpus callosum -
Autosomal recessive inheritance -
Bowed humerus -
Brachydactyly syndrome -
Cleft vertebral arch -
Coarctation of aorta -
Cryptorchidism -
Defect in the atrial septum -
Delayed skeletal maturation -
Disproportionate short stature -
Dry skin -
Elbow dislocation -
Elbow flexion contracture -
Enlarged metaphyses -
Failure to thrive -
Femoral bowing -
Heterotopia -
Hip contracture -
Hip dislocation -
Hyperkeratosis -
Hypoplasia of the frontal lobes -
Hypoplastic ilia -
Intellectual disability -
Intrauterine growth retardation -
Knee flexion contracture -
Large hands -
Long clavicles -
Long foot -
Low-set ears -
Micrognathia -
Micromelia -
Micropenis -
Microtia -
Oligohydramnios -
Pachygyria -
Platyspondyly -
Prolonged neonatal jaundice -
Prominent nose -
Prominent occiput -
Proptosis -
Renal cyst -
Renal hypoplasia -
Seizures -
Short humerus -
Short metacarpal -
Short neck -
Shoulder flexion contracture -
Single transverse palmar crease -
Sloping forehead -
Small anterior fontanelle -
Sparse eyebrow -
Sparse eyelashes -
Sparse scalp hair -
Stillbirth -
Tetralogy of Fallot -

Last updated: 12/1/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Spranger JW, Brill PW, Poznanski A. Bone Dysplasias: An atlas of genetic disorders of the skeletal development. 2nd ed. Oxford, NY: Oxford University Press; 2002;
  2. Microcephalic osteodysplastic primordial dwarfism types 1 and 3. Orphanet. November 2008; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2636. Accessed 11/11/2011.


Other Names for this Disease
  • Brachymelic primordial dwarfism
  • Cephaloskeletal dysplasia
  • Low-birth-weight dwarfism with skeletal dysplasia
  • Microcephalic osteodysplastic primordial dwarfism types 1 and 3
  • MOPD 1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.