Neonatal progeroid syndrome

Title

Other Names:

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

Categories:

Congenital and Genetic Diseases; Endocrine Diseases; Eye diseases; Congenital and Genetic Diseases; Endocrine Diseases; Eye diseases; Nervous System Diseases; Skin Diseases See More

Summary 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]

Last updated: 4/15/2015

Symptoms 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

Last updated: 4/14/2015

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.

Showing of 155 |

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 serum triglycerides Increased plasma triglycerides Increased triglycerides [ more ]	0002155
Hypodontia	Failure of development of between one and six teeth	0000668
Hypogonadotropic hypogonadism		0000044
Increased circulating prolactin concentration		0000870
Increased subcutaneous truncal adipose tissue	Increased fat below the skin in trunk	0009003
Intellectual disability, moderate	IQ between 34 and 49	0002342
Irregular sclerotic endplates		0008476
Joint hypermobility	Double-Jointed Flexible joints Increased mobility of joints [ more ]	0001382
Kyphoscoliosis		0002751
Leukodystrophy		0002415
Limb hypertonia	Increased muscle tone of arm or leg	0002509
Long fingers		0100807
Long toe	Increased length of toes Long toes [ more ]	0010511
Low-set ears	Low set ears Lowset ears [ more ]	0000369
Myalgia	Muscle ache Muscle pain [ more ]	0003326
Myopia	Close sighted Near sighted Near sightedness Nearsightedness [ more ]	0000545
Osteopenia		0000938
Premature loss of teeth	Early tooth loss Loss of teeth Premature teeth loss Premature tooth loss [ more ]	0006480
Premature skin wrinkling		0100678
Recurrent otitis media	Recurrent middle ear infection	0000403
Recurrent skin infections	Skin infections, recurrent	0001581
Short femur	Short thighbone	0003097
Short humerus	Short long bone of upper arm Short upper arms [ more ]	0005792
Skeletal muscle hypertrophy	Increased skeletal muscle cells	0003712
Spasticity	Involuntary muscle stiffness, contraction, or spasm	0001257
Submucous cleft soft palate		0011819
Synophrys	Monobrow Unibrow [ more ]	0000664
Synovitis		0100769
Thickened calvaria	Increased thickness of skull cap Thickened skull cap [ more ]	0002684
Thin long bone diaphyses	Thin shaft of long bone	0006470
Thin skin		0000963
Truncal ataxia	Instability or lack of coordination of central trunk muscles	0002078
Wide nasal ridge	Increased width of nasal ridge	0012811
5%-29% of people have these symptoms
2-3 toe syndactyly	Webbed 2nd and 3rd toes	0004691
Abnormal corpus striatum morphology		0010994
Absent earlobe	Earlobe, absent Lobeless ears [ more ]	0000387
Action tremor		0002345
Agenesis of corpus callosum		0001274
Anteverted nares	Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ]	0000463
Arnold-Chiari type I malformation		0007099
Atlantoaxial abnormality		0003413
Cerebellar hypoplasia	Small cerebellum Underdeveloped cerebellum [ more ]	0001321
Cervical vertebral dysplasia		0008469
Dilatation of renal calices		0100581
Flexion contracture	Flexed joint that cannot be straightened	0001371
Gynecomastia	Enlarged male breast	0000771
Hypoplastic ilia		0000946
Hypoplastic vertebral bodies	Underdeveloped back bones	0008479
Hypospadias		0000047
Laryngomalacia	Softening of voice box tissue	0001601
Nystagmus	Involuntary, rapid, rhythmic eye movements	0000639
Optic atrophy		0000648
Pigmentary retinopathy		0000580
Polymicrogyria	More grooves in brain	0002126
Pulmonic stenosis	Narrowing of pulmonic valve	0001642
Recurrent urinary tract infections	Frequent urinary tract infections Repeated bladder infections Repeated urinary tract infections Urinary tract infections Urinary tract infections, recurrent [ more ]	0000010
Seizure		0001250
Vesicoureteral reflux		0000076
Wide penis		0030265
1%-4% of people have these symptoms
Blue sclerae	Whites of eyes are a bluish-gray color	0000592
Broad eyebrow	Broad eyebrows Flared eyebrow Increased vertical height of eyebrow Increased vertical thickness of eyebrow [ more ]	0011229
Congenital malformation of the left heart		0045017
Dysplastic pulmonary valve		0005164
Hyperthyroidism	Overactive thyroid	0000836
Increased serum estradiol		0025134
Increased serum testosterone level		0030088
Lagopthalmos	Eyelids stay open Inability to close the eyelids [ more ]	0030001
Optic disc hypoplasia		0007766
Type II diabetes mellitus	Noninsulin-dependent diabetes Type 2 diabetes Type II diabetes [ more ]	0005978
Percent of people who have these symptoms is not available through HPO
Abnormality of cardiovascular system morphology		0030680
Absence of subcutaneous fat	Absent fat below the skin Lack of fatty tissue below the skin [ more ]	0007485
Arnold-Chiari malformation		0002308
Autosomal recessive inheritance		0000007
Congenital onset	Symptoms present at birth	0003577
Dandy-Walker malformation		0001305
Delayed closure of the anterior fontanelle	Later than typical closing of soft spot of skull	0001476
Delayed eruption of teeth	Delayed eruption Delayed teeth eruption Delayed tooth eruption Eruption, delayed Late eruption of teeth Late tooth eruption [ more ]	0000684
Downslanted palpebral fissures	Downward slanting of the opening between the eyelids	0000494
Dysphagia	Poor swallowing Swallowing difficulties Swallowing difficulty [ more ]	0002015
Ectropion	Eyelid turned out	0000656
Generalized amyotrophy	Diffuse skeletal muscle wasting Generalized muscle degeneration Muscle atrophy, generalized [ more ]	0003700
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Hypertonia		0001276
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Intention tremor		0002080
Intrauterine growth retardation	Prenatal growth deficiency Prenatal growth retardation [ more ]	0001511
Large hands	large hand	0001176
Long foot	Disproportionately large feet large feet long feet [ more ]	0001833
Long penis	Enlarged penis	0000040
Macrocephaly	Increased size of skull Large head Large head circumference [ more ]	0000256
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Muscle weakness	Muscular weakness	0001324
Narrow nasal ridge	Decreased width of nasal ridge Pinched nose Thin nasal ridge [ more ]	0000418
Parietal bossing		0000242
Recurrent respiratory infections	Frequent respiratory infections Multiple respiratory infections respiratory infections, recurrent Susceptibility to respiratory infections [ more ]	0002205
Scoliosis		0002650
Small nail	Small nails	0001792
Sparse and thin eyebrow	Thin, sparse eyebrows	0000535
Sparse eyelashes	Scant eyelashes Scanty eyelashes Thin eyelashes [ more ]	0000653
Sparse hair		0008070
Sudanophilic leukodystrophy		0003269
Thin ribs	Slender ribs	0000883

Showing of 155 |

Last updated: 7/1/2020

Cause 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]

Last updated: 4/14/2015

Inheritance Inheritance

Although the underlying genetic cause of neonatal progeroid syndrome is unknown, studies suggest that it is likely inherited in an autosomal recessive manner.^[1]^[2] This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.

Last updated: 4/15/2015

Diagnosis 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]

Last updated: 4/15/2015

Treatment 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]

Last updated: 4/15/2015

Statistics Statistics

More than 30 cases have been reported in the medical literature.^[2]^[3]

Last updated: 3/9/2016

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

Organizations 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

Progeria Research Foundation, Inc.
P.O. Box 3453
Peabody, MA 01961-3453
Telephone: 978-535-2594
Fax: 978-535-5849
E-mail: info@progeriaresearch.org
Website: http://www.progeriaresearch.org

Learn More 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.

News & Events News & Events

News

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May 22, 2020
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May 21, 2020

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

Who is affected by neonatal progeroid syndrome? See answer
My niece has been diagnosed with Wiedemann-Rautenstrauch syndrome and I was wondering what is known about the syndrome.
See answer

References References

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.
Pivnick EK. Wiedemann Rautenstrauch Syndrome. NORD. 2010; http://rarediseases.org/rare-diseases/wiedemann-rautenstrauch-syndrome/.
Wiedemann-Rautenstrauch syndrome. Orphanet. March 2010; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3455.

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