Rare Pediatrics 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.
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
Age of onset
Infancy
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
Not applicable
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.
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.
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.
The demonstration of congenital glaucoma, hallmark of the syndrome, in the father of an affected patient, supports autosomal dominant inheritance.
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 |
0002012 | |
| Aplasia/Hypoplasia of the |
0007370 | |
|
Cleft roof of mouth
|
0000175 | |
| 0000776 | ||
| Convex nasal ridge |
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity
[ more ] |
0000444 |
| 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 |
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 |
|
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 |
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 |
|
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 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
| Midgut malrotation | 0005211 | |
| Osteopenia | 0000938 | |
| 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 | ||
| 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 |
| 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 | |
Learn moreThese 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
Rare Pediatrics News | ||