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  3. Lowry Maclean syndrome
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Lowry Maclean syndrome


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Other Names:
Mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure
Categories:
Congenital and Genetic Diseases; Eye diseases; Musculoskeletal Diseases; Congenital and Genetic Diseases; Eye diseases; Musculoskeletal Diseases; Nervous System Diseases See More

Summary Summary


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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 2409

Definition
Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations.

Epidemiology
Only three cases have been reported in the literature in three unrelated families.

Clinical description
Dysmorphic features include trigonocephaly, exotropia, cleft palate, beaked nose and low-set ears. All the affected patients have associated congenital visceral malformations including congenital heart defects, diaphragmatic hernia, genital or cerebral abnormalities.

Genetic counseling
The demonstration of congenital glaucoma, hallmark of the syndrome, in the father of an affected patient, supports autosomal dominant inheritance.

Prognosis
Prognosis is poor.

Visit the Orphanet disease page for more resources.
Last updated: 1/1/2010

Symptoms Symptoms


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This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 57 |
Medical Terms Other Names
Learn More:
HPO ID
30%-79% of people have these symptoms
Abnormality of the abdominal organs 0002012
Aplasia/Hypoplasia of the corpus callosum 0007370
Cleft palate
Cleft roof of mouth
0000175
Congenital diaphragmatic hernia 0000776
Convex nasal ridge
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity
[ more ]
0000444
Craniosynostosis 0001363
Delayed eruption of primary teeth
Delayed eruption of baby teeth
Delayed eruption of milk teeth
Late eruption of baby teeth
Late eruption of milk teeth
[ more ]
0000680
Developmental glaucoma 0001087
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
0001511
Low-set ears
Low set ears
Lowset ears
[ more ]
0000369
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
0000252
Proptosis
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
0000520
Severe global developmental delay 0011344
5%-29% of people have these symptoms
Abnormality of the supraorbital ridges
Abnormality of the brow of the face
0100538
Atrioventricular canal defect 0006695
Bilateral cryptorchidism 0008689
Blue sclerae
Whites of eyes are a bluish-gray color
0000592
Choanal atresia
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity
[ more ]
0000453
Coarctation of aorta
Narrowing of aorta
Narrowing of the aorta
[ more ]
0001680
Corneal opacity 0007957
Craniofacial dysostosis 0004439
Dermoid cyst 0025247
Downturned corners of mouth
Downturned corners of the mouth
Downturned mouth
[ more ]
0002714
Exotropia
Outward facing eye ball
0000577
Generalized hypertrichosis 0004554
Hemiparesis
Weakness of one side of body
0001269
High forehead 0000348
High, narrow palate
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ]
0002705
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hypoplasia of the maxilla
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ]
0000327
Hypospadias 0000047
Inguinal hernia 0000023
Megalocornea
Enlarged cornea
0000485
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ]
0000347
Midgut malrotation 0005211
Osteopenia 0000938
Osteoporosis 0000939
Pyloric stenosis 0002021
Retrognathia
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ]
0000278
Short nasal bridge
Decreased length of bridge of nose
Decreased length of nasal bridge
Short bridge of nose
[ more ]
0003194
Short nose
Decreased length of nose
Shortened nose
[ more ]
0003196
Single transverse palmar crease 0000954
Small anterior fontanelle 0000237
Talon cusp 0011087
Trigonocephaly
Triangular skull shape
Wedge shaped skull
[ more ]
0000243
Visual loss
Loss of vision
Vision loss
[ more ]
0000572
Widely patent coronal suture 0005442
1%-4% of people have these symptoms
Seizure 0001250
Percent of people who have these symptoms is not available through HPO
Abnormal heart morphology
Abnormality of the heart
Abnormally shaped heart
Heart defect
[ more ]
0001627
Autosomal dominant inheritance 0000006
Delayed eruption of teeth
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ]
0000684
Diaphragmatic eventration 0009110
Glaucoma 0000501
Global developmental delay 0001263
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
0001249
Preauricular pit
Pit in front of the ear
0004467
Showing of 57 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 1/1/2021
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More


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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Lowry Maclean syndrome. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.
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