Lowry Maclean syndrome

Title

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

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

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: 1/10/2010

Symptoms Symptoms

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.

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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
Seizures	Seizure	0001250
Percent of people who have these symptoms is not available through HPO
Abnormal heart morphology	Abnormality of the heart Abnormally shaped heart [ 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

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 8/1/2019

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Find a Specialist Find a Specialist

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

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.

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