Rare Cardiology News

Disease Profile

Say Barber Miller 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

ageofonset-infancy.svg

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

no.svg

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

no.svg

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.

no.svg

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

no.svg

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.

no.svg

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.

no.svg

Not applicable

no.svg

Other names (AKA)

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

Categories

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

Summary

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

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.

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
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

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.

Rare Cardiology News