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Disease Profile
Neonatal progeroid 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
E34.8
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)
Wiedemann-Rautenstrauch syndrome; Progeroid syndrome neonatal; Wiedemann Rautenstrauch syndrome
Categories
Congenital and Genetic Diseases; Endocrine Diseases; Eye diseases;
Summary
Neonatal progeroid
Symptoms
- Subcutaneous lipoatrophy (deficiency or absence of the fat layer beneath the skin) which gives infants an aged appearance at birth
- Intrauterine growth restriction
- Failure to thrive
- Feeding difficulties
- Distinctive craniofacial features such as a triangular face; large skull with wide anterior (front) fontanelle; small, underdeveloped facial bones; natal teeth; low-set, posteriorly (towards the back) rotated ears, ectropion; and/or unusually sparse scalp hair, eyebrows, and eyelashes
- Thin arms and legs with disproportionately large hands and feet
- Small fingers and toes with underdeveloped nails
- Osteopenia (low bone density)
- Horizontal
nystagmus Developmental delay - Mild to severe
intellectual disability
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 | ||
Broad forehead |
Increased width of the forehead
Wide forehead
[ more ] |
0000337 |
0009059 | ||
Convex nasal ridge |
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity
[ more ] |
0000444 |
Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ] |
0000490 |
Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ] |
0002714 |
Entropion |
Eyelid turned in
|
0000621 |
Frontal bossing | 0002007 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Large beaked nose | 0003683 | |
Lipoatrophy |
Loss of fat tissue in localized area
|
0100578 |
Loss of facial adipose |
Decreased amount of facial fat
Loss of facial fat
[ more ] |
0000292 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Narrow mouth |
Small mouth
|
0000160 |
Natal tooth |
Born with teeth
Teeth present at birth
[ more ] |
0000695 |
Pointed chin |
Pointy chin
Small pointed chin
Witch's chin
[ more ] |
0000307 |
Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
Progeroid facial appearance |
Premature aged appearance
|
0005328 |
Prominent scalp veins | 0001043 | |
Reduced subcutaneous adipose tissue |
Reduced fat tissue below the skin
|
0003758 |
Relative macrocephaly |
Relatively large head
|
0004482 |
Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ] |
0000278 |
Severe intrauterine growth retardation |
Severe prenatal growth deficiency
|
0008846 |
Short philtrum | 0000322 | |
Decreased body height
Small stature
[ more ] |
0004322 | |
Slender build |
Thin build
|
0001533 |
Sparse scalp hair |
Reduced/lack of hair on scalp
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair
[ more ] |
0002209 |
Thin upper lip vermilion |
Thin upper lip
|
0000219 |
Triangular face |
Face with broad temples and narrow chin
Triangular facial shape
[ more ] |
0000325 |
Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
Widely patent fontanelles and sutures | 0004492 | |
30%-79% of people have these symptoms | ||
Darkened and thickened skin
|
0000956 | |
Aplasia/Hypoplasia of the nails |
Absent/small nails
Absent/underdeveloped nails
[ more ] |
0008386 |
Caesarian section | 0011410 | |
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
0003429 | ||
Confusion |
Disorientation
Easily confused
Mental disorientation
[ more ] |
0001289 |
Corneal opacity | 0007957 | |
Cranial asymmetry | 0000267 | |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Dermal translucency | 0010648 | |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
Fever | 0001945 | |
Global developmental delay | 0001263 | |
Growth |
0000824 | |
Hearing abnormality |
Abnormal hearing
|
0000364 |
Hepatic steatosis |
Fatty infiltration of liver
Fatty liver
[ more ] |
0001397 |
Hip dysplasia | 0001385 | |
Hirsutism |
Excessive hairiness
|
0001007 |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Hydronephrosis | 0000126 | |
Hypermetropia |
Farsightedness
Long-sightedness
[ more ] |
0000540 |
Hypertriglyceridemia |
Increased plasma triglycerides
Increased triglycerides
Increased serum triglycerides
[ more ] |
0002155 |
Hyp
Diagnosis A diagnosis of neonatal progeroid
Treatment Because neonatal progeroid
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
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
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