Rare Oncology News

Disease Profile

Lowry Maclean syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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ICD-10

Q87.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Categories

Congenital and Genetic Diseases; Eye diseases; Musculoskeletal Diseases;

Summary

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

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.

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

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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