Say Barber Miller syndrome

Title

Other Names:

Microcephaly hypogammaglobulinemia abnormal immunity; Microcephaly with chemotactic defect and transient hypogammaglobulinemia

Categories:

Congenital and Genetic Diseases; Immune System Diseases; Nervous System Diseases

Summary Summary

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

Orpha Number: 3132

Definition

Say-Barber-Miller syndrome is characterised by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation.

Epidemiology

It has been reported in two brothers born to normal parents.

Clinical description

Additional features include hypogonadism, flexion contractures, hypoplastic patellae, scoliosis, eczema and recurrent infections. The characteristic facies was marked by a sloping forehead, beaked nose, large and protruding ears, and micrognathia. Low levels of serum gammaglobulins and defective chemotaxis were detected in both boys during infancy.

Prognosis

The hypogammaglobulinaemia improved with age but the defective chemotaxis and recurrent infections persisted.

Visit the Orphanet disease page for more resources.

Last updated: 5/3/2006

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
80%-99% of people have these symptoms
Abnormal facial shape	Unusual facial appearance	0001999
Global developmental delay		0001263
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Transient hypogammaglobulinemia of infancy		0005432
30%-79% of people have these symptoms
Convex nasal ridge	Beaked nose Beaklike protrusion Hooked nose Polly beak nasal deformity [ more ]	0000444
Craniosynostosis		0001363
Delayed speech and language development	Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ]	0000750
Elbow flexion contracture	Contractures of elbows Elbow contracture Elbow contractures [ more ]	0002987
Erythema nodosum		0012219
High palate	Elevated palate Increased palatal height [ more ]	0000218
Hypogonadism	Decreased activity of gonads	0000135
Impaired neutrophil chemotaxis		0040238
Knee flexion contracture		0006380
Macrotia	Large ears	0000400
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Multiple epiphyseal dysplasia		0002654
Panniculitis	Inflammation of fat tissue	0012490
Patellar hypoplasia	Small kneecap Underdeveloped kneecap [ more ]	0003065
Prominent nasal bridge	Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ]	0000426
Protruding ear	Prominent ear Prominent ears [ more ]	0000411
Recurrent patellar dislocation		0005001
Sloping forehead	Inclined forehead Receding forehead [ more ]	0000340
5%-29% of people have these symptoms
Abnormal T cell morphology		0002843
Abnormality of the hairline		0009553
Ankle clonus	Abnormal rhythmic movements of ankle	0011448
Babinski sign		0003487
Broad nasal tip	Broad tip of nose Broad, upturned nose Increased breadth of nasal tip Increased breadth of tip of nose Increased width of nasal tip Increased width of tip of nose Nasal tip, broad Nasal tip, wide Wide tip of nose [ more ]	0000455
Carious teeth	Dental cavities Tooth cavities Tooth decay [ more ]	0000670
Cryptorchidism	Undescended testes Undescended testis [ more ]	0000028
Decreased circulating IgG level		0004315
Deeply set eye	Deep set eye Deep-set eyes Sunken eye [ more ]	0000490
Eczema		0000964
Fetal fifth finger clinodactyly		0011431
Generalized hyperreflexia		0007034
Highly arched eyebrow	Arched eyebrows Broad, arched eyebrows High, rounded eyebrows High-arched eyebrows Thick, flared eyebrows [ more ]	0002553
Hip dislocation	Dislocated hips Dislocation of hip [ more ]	0002827
Hirsutism	Excessive hairiness	0001007
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Infantile encephalopathy		0007105
Lingual dystonia		0031008
Lower limb hypertonia		0006895
Low-set, posteriorly rotated ears		0000368
Macular degeneration		0000608
Misalignment of teeth	Abnormal dental position Abnormal teeth spacing Abnormality of alignment of teeth Abnormality of teeth spacing Crooked teeth Malaligned teeth Malposition of teeth Malpositioned teeth [ more ]	0000692
Optic atrophy		0000648
Rod-cone dystrophy		0000510
Rotary nystagmus		0001583
Short stature	Decreased body height Small stature [ more ]	0004322
Sparse eyebrow	Sparse eyebrows	0045075
Spastic paraparesis		0002313
Talipes equinovalgus		0001772
Thin vermilion border	Decreased volume of lip Thin lips [ more ]	0000233
Thoracic kyphoscoliosis		0005659
Ulnar deviation of the hand or of fingers of the hand		0001193
Upslanted palpebral fissure	Upward slanting of the opening between the eyelids	0000582
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance		0000007
Flexion contracture	Flexed joint that cannot be straightened	0001371
Recurrent infections	Frequent infections Frequent, severe infections Increased frequency of infection infections, recurrent Predisposition to infections Susceptibility to infection [ more ]	0002719
Scoliosis	Abnormal curving of the spine	0002650

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Last updated: 8/1/2019

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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 Say Barber Miller syndrome. Click on the link to view a sample search on this topic.

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