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Disease Profile
Pseudoaminopterin 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
Antenatal
ICD-10
Q82.0
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)
Aminopterin syndrome sine aminopterin; ASSA
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases; Nervous System Diseases
Summary
Orpha Number: 221120
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 | ||
Abnormal temporal bone morphology | 0009911 | |
Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Frontal upsweep of hair |
Cowlick
Frontal Cowlick
Upswept frontal hair
[ more ] |
0002236 |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Highly arched eyebrow |
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows
[ more ] |
0002553 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Limited elbow movement |
Decreased elbow mobility
Limited elbow mobility
Restricted elbow motion
[ more ] |
0002996 |
Low-set, posteriorly rotated ears | 0000368 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Patchy reduction of bone mineral density | 0010657 | |
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 |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] |
0000520 |
Decreased body height
Small stature
[ more ] |
0004322 | |
Underdeveloped supraorbital ridges |
Flattened bony protrusion above eyes
|
0009891 |
5%-29% of people have these symptoms | ||
Absent earlobe |
Earlobe, absent
Lobeless ears
[ more ] |
0000387 |
Asplenia |
Absent spleen
|
0001746 |
Short fingers or toes
|
0001156 | |
Broad forehead |
Increased width of the forehead
Wide forehead
[ more ] |
0000337 |
Clinodactyly of the 4th finger | 0040025 | |
Clinodactyly of the 5th toe | 0001864 | |
Clubbing of fingers |
Clubbed fingers
Clubbing (hands)
Finger clubbing
[ more ] |
0100759 |
Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ] |
0000268 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ] |
0000324 |
Fatigable weakness | 0003473 | |
Frontal bossing | 0002007 | |
Global |
0001263 | |
Hip subluxation |
Partial hip dislocation
|
0030043 |
Horseshoe kidney |
Horseshoe kidneys
|
0000085 |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Hypoplasia of the antihelix | 0009739 | |
Infantile muscular |
Decreased muscle tone in infant
|
0008947 |
Inguinal hernia | 0000023 | |
Inverted nipples | 0003186 | |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 |
Microdontia |
Decreased width of tooth
|
0000691 |
Mild conductive hearing impairment | 0008598 | |
Nasal speech |
Nasal voice
|
0001611 |
Nasogastric tube feeding in infancy | 0011470 | |
Ophthalmoplegia |
Eye muscle paralysis
|
0000602 |
Oral cleft |
Cleft of the mouth
|
0000202 |
Overlapping toe |
Overlapping toes
Overriding toes
[ more ] |
0001845 |
Patent foramen ovale | 0001655 | |
Pectus excavatum |
Funnel chest
|
0000767 |
Pes planus |
Flat feet
Flat foot
[ more ] |
0001763 |
Poor suck |
Poor sucking
|
0002033 |
Postaxial |
0100259 | |
Posterolateral diaphragmatic hernia | 0025193 | |
Prominent sternum | 0000884 | |
Sacrococcygeal pilonidal abnormality | 0010767 | |
Sagittal |
Early closure of midline skull joint
Midline skull joint closes early
[ more ] |
0004442 |
Short 4th metacarpal |
Shortened 4th long bone of hand
|
0010044 |
Short philtrum | 0000322 | |
Short thumb |
Short thumbs
Small thumbs
[ more ] |
0009778 |
Single transverse palmar crease | 0000954 | |
Slender finger |
Narrow fingers
Slender fin
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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