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Disease Profile

Neonatal progeroid 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

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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

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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

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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.

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

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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.

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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.

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Not applicable

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Other names (AKA)

Wiedemann-Rautenstrauch syndrome; Progeroid syndrome neonatal; Wiedemann Rautenstrauch syndrome

Categories

Congenital and Genetic Diseases; Endocrine Diseases; Eye diseases;

Summary

Neonatal progeroid syndrome is a rare genetic syndrome characterized by an aged appearance at birth. Other signs and symptoms include intrauterine growth restriction, feeding difficulties, distinctive craniofacial features, hypotonia, developmental delay and mild to severe intellectual disability. In most cases, affected infants pass away before age 7 months, but rare reports exist of survival into the teens or early 20s. Although the exact underlying cause of neonatal progeroid syndrome is unknown, it is likely a genetic condition that is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive.[1][2][3]

Symptoms

The signs and symptoms of neonatal progeroid syndrome vary but may include:[1][2]

  • 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
Congenital generalized lipodystrophy
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 tissue
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
Short stature
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
Acanthosis nigricans
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
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
CNS hypomyelination
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 hormone deficiency
0000824
Hearing abnormality
Abnormal hearing
0000364
Hepatic steatosis
Fatty infiltration of liver
Fatty liver

[ more ]

0001397
Hip dysplasia
0001385
Hirsutism
Excessive hairiness
0001007
Hydrocephalus
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

Cause

The exact underlying cause of neonatal progeroid syndrome is unknown. Scientists suspect that it is a genetic condition; however, a disease-causing gene has not been identified.[1][2]

Diagnosis

A diagnosis of neonatal progeroid syndrome is made based on the presence of characteristic signs and symptoms. Rarely, a diagnosis may be suspected before birth if concerning features are viewed on ultrasound; however, most cases are diagnosed shortly after birth.[1][2]

Treatment

Because neonatal progeroid syndrome affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment varies based on the signs and symptoms present in each person. For example, a feeding tube may be recommended in infants with feeding difficulties who have trouble putting on weight.[2]

Organizations

Support 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 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.

    Where to Start

    • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

      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 Neonatal progeroid syndrome. Click on the link to view a sample search on this topic.

        References

        1. Arboleda G, Morales LC, Quintero L, Arboleda H. Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome): report of three affected sibs. Am J Med Genet A. July 2011; 155A(7):1712-1715.
        2. Pivnick EK. Wiedemann Rautenstrauch Syndrome. NORD. 2010; https://rarediseases.org/rare-diseases/wiedemann-rautenstrauch-syndrome/.
        3. Wiedemann-Rautenstrauch syndrome. Orphanet. March 2010; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3455.

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