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Disease Profile
Say Barber Miller syndrome
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.
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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
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
Orpha Number: 3132
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 |
0001263 | |
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 |
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 |
Contractures of elbows
Elbow contracture
Elbow contractures
[ more ] |
0002987 |
Erythema nodosum | 0012219 | |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Decreased activity of gonads
|
0000135 | |
Impaired neutrophil chemotaxis | 0040238 | |
Knee flexion contracture | 0006380 | |
Macrotia |
Large ears
|
0000400 |
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 |
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 |
0007105 | |
Lingual |
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 |
0001583 | |
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 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
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