Rare Endocrinology News
Disease Profile
PACS1-related 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.
#N/A
Age of onset
#N/A
ICD-10
#N/A
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)
Autosomal dominant intellectual disability-17; Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome; Schuurs-Hoeijmakers syndrome;
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
PACS-1 related
Symptoms
Signs and symptoms of PACS1-related syndrome may include:[1][3][4]
Intellectual disability Developmental delay - Low muscle tone (
hypotonia ) - Feeding difficulties
Seizures - Behavioral features
- Distinctive facial features
- Heart defects
Children with PACS1-related syndrome often have facial features that make them look similar to each other. These features can include low hairline, low set ears, wide spaced eyes, and a round nasal tip. Some boys with PACS1-related syndrome may have undescended
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 | |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 |
30%-79% of people have these symptoms | ||
Abnormal temper tantrums | 0025160 | |
Bilateral |
Drooping of both upper eyelids
|
0001488 |
Bulbous nose | 0000414 | |
Constipation | 0002019 | |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
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 |
Infantile muscular hypotonia |
Decreased muscle tone in infant
|
0008947 |
Long eyelashes |
Increased length of eyelashes
Unusually long eyelashes
[ more ] |
0000527 |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Oral aversion | 0012523 | |
Protruding ear |
Prominent ear
Prominent ears
[ more ] |
0000411 |
5%-29% of people have these symptoms | ||
Abnormal cardiac septum morphology | 0001671 | |
Abnormal renal morphology |
Abnormally shaped kidney
Kidney malformation
Kidney structure issue
Structural kidney abnormalities
[ more ] |
0012210 |
Absent speech |
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal
[ more ] |
0001344 |
Autistic behavior | 0000729 | |
Bicuspid aortic valve |
Aortic valve has two leaflets rather than three
|
0001647 |
Broad thumb |
Broad thumbs
Wide/broad thumb
[ more ] |
0011304 |
Cavum septum pellucidum | 0002389 | |
Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ] |
0001321 |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
Coloboma |
Notched pupil
|
0000589 |
Decreased serum complement C3 | 0005421 | |
Diastema |
Gap between teeth
|
0000699 |
Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ] |
0002714 |
Difficulty articulating speech
|
0001260 | |
Focal emotional seizure with laughing | 0010821 | |
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ] |
0002020 |
Inguinal hernia | 0000023 | |
Low anterior hairline |
Low frontal hairline
Low-set frontal hairline
[ more ] |
0000294 |
Macrotia |
Large ears
|
0000400 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Nasogastric tube feeding | 0040288 | |
Partial absence of cerebellar vermis | 0002951 | |
Patent ductus arteriosus | 0001643 | |
Patent foramen ovale | 0001655 | |
Pectus excavatum |
Funnel chest
|
0000767 |
Pes planus |
Flat feet
Flat foot
[ more ] |
0001763 |
0002650 | ||
Single transverse palmar crease | 0000954 | |
Single umbilical artery |
Only one artery in umbilical cord instead of two
|
0001195 |
Slender finger |
Narrow fingers
Slender fingers
thin fingers
[ more ] |
0001238 |
Smooth philtrum | 0000319 | |
Synophrys |
Monobrow
Unibrow
[ more ] |
0000664 |
Thin upper lip vermilion |
Thin upper lip
|
0000219 |
Umbilical hernia | 0001537 | |
Unsteady gait |
Unsteady walk
|
0002317 |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
Wide intermamillary distance |
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ] |
Cause PACS1-related
Treatment Treatment of PACS1-related
Specialists involved in the care of someone with PACS1-related syndrome may include:
OrganizationsSupport and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Organizations Supporting this Disease
Social Networking Websites
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. Where to Start
In-Depth Information
References
Rare Endocrinology News |