Wiedemann-Rautenstrauch syndrome
General Information (adopted from Orphanet):
Synonyms, Signs: |
WIEDEMANN-RAUTENSTRAUCH SYNDROME Neonatal progeroid syndrome |
Number of Symptoms | 114 |
OrphanetNr: | 3455 |
OMIM Id: |
264090
|
ICD-10: |
E34.8 |
UMLs: |
C0406586 |
MeSH: |
C536423 |
MedDRA: |
|
Snomed: |
238874008 |
Prevalence, inheritance and age of onset:
Prevalence: | 25 cases [Orphanet] |
Inheritance: |
Autosomal recessive [Orphanet] |
Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Genetic lipodystrophy
-Rare endocrine disease -Rare genetic disease -Rare skin disease Genetic progeroid syndrome -Rare genetic disease Malformation syndrome with skin/mucosae involvement -Rare developmental defect during embryogenesis -Rare genetic disease Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit -Rare developmental defect during embryogenesis -Rare genetic disease Premature aging -Rare genetic disease -Rare skin disease Progeroid syndrome -Rare developmental defect during embryogenesis Rare genetic intellectual deficit with developmental anomaly -Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease Secondary ectropion -Rare eye disease -Rare genetic disease |
Symptom Information:
|
(HPO:0000047) | Hypospadias | rare [HPO:skoehler] | 250 / 7739 | |||
|
(HPO:0000028) | Cryptorchidism | 347 / 7739 | ||||
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(HPO:0000035) | Abnormality of the testis | Frequent [Orphanet] | 296 / 7739 | |||
|
(HPO:0000040) | Long penis | Occasional [Orphanet] | 17 / 7739 | |||
|
(HPO:0000256) | Macrocephaly | Very frequent [Orphanet] | 298 / 7739 | |||
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(HPO:0100840) | Aplasia/Hypoplasia of the eyebrow | Very frequent [Orphanet] | 117 / 7739 | |||
|
(HPO:0000582) | Upslanted palpebral fissure | 185 / 7739 | ||||
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(HPO:0000695) | Natal tooth | Frequent [Orphanet] | 42 / 7739 | |||
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(HPO:0000444) | Convex nasal ridge | Frequent [Orphanet] | 87 / 7739 | |||
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(HPO:0002209) | Sparse scalp hair | 59 / 7739 | ||||
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(HPO:0000242) | Parietal bossing | 11 / 7739 | ||||
|
(HPO:0000272) | Malar flattening | 277 / 7739 | ||||
|
(HPO:0000277) | Abnormality of the mandible | Occasional [Orphanet] | 394 / 7739 | |||
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(HPO:0000656) | Ectropion | 25 / 7739 | ||||
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(HPO:0000160) | Narrow mouth | Very frequent [Orphanet] | 188 / 7739 | |||
|
(HPO:0000239) | Large fontanelles | Very frequent [Orphanet] | 135 / 7739 | |||
|
(HPO:0000653) | Sparse eyelashes | 58 / 7739 | ||||
|
(HPO:0000492) | Abnormality of the eyelid | Frequent [Orphanet] | 41 / 7739 | |||
|
(HPO:0001476) | Delayed closure of the anterior fontanelle | 23 / 7739 | ||||
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(HPO:0000316) | Hypertelorism | 644 / 7739 | ||||
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(HPO:0000347) | Micrognathia | 426 / 7739 | ||||
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(HPO:0002007) | Frontal bossing | Very frequent [Orphanet] | 366 / 7739 | |||
|
(HPO:0200102) | Sparse or absent eyelashes | Very frequent [Orphanet] | 64 / 7739 | |||
|
(HPO:0000325) | Triangular face | Very frequent [Orphanet] | 91 / 7739 | |||
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(HPO:0000535) | Sparse and thin eyebrow | 76 / 7739 | ||||
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(HPO:0000348) | High forehead | Very frequent [Orphanet] | 157 / 7739 | |||
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(HPO:0000621) | Entropion | 12 / 7739 | ||||
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(HPO:0000418) | Narrow nasal ridge | 15 / 7739 | ||||
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(HPO:0004492) | Widely patent fontanelles and sutures | 11 / 7739 | ||||
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(HPO:0000592) | Blue sclerae | 85 / 7739 | ||||
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(HPO:0000639) | Nystagmus | 555 / 7739 | ||||
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(HPO:0000365) | Hearing impairment | Very frequent [Orphanet] | 539 / 7739 | |||
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(HPO:0000369) | Low-set ears | 372 / 7739 | ||||
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(HPO:0009906) | Aplasia/Hypoplasia of the earlobes | 41 / 7739 | ||||
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(HPO:0000411) | Protruding ear | Frequent [Orphanet] | 140 / 7739 | |||
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(HPO:0002080) | Intention tremor | 44 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
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(HPO:0002015) | Dysphagia | 301 / 7739 | ||||
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(HPO:0002078) | Truncal ataxia | 41 / 7739 | ||||
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(HPO:0000771) | Gynecomastia | 53 / 7739 | ||||
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(HPO:0009473) | Joint contracture of the hand | 84 / 7739 | ||||
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(HPO:0100807) | Long fingers | 23 / 7739 | ||||
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(HPO:0001833) | Long foot | 33 / 7739 | ||||
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(HPO:0000883) | Thin ribs | 31 / 7739 | ||||
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(HPO:0010511) | Long toe | 9 / 7739 | ||||
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(HPO:0001387) | Joint stiffness | Occasional [Orphanet] | 322 / 7739 | |||
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(HPO:0001176) | Large hands | 43 / 7739 | ||||
|
(HPO:0000946) | Hypoplastic ilia | 21 / 7739 | ||||
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(HPO:0011302) | Long palm | Very frequent [Orphanet] | 70 / 7739 | |||
|
(HPO:0001371) | Flexion contracture | rare [HPO:skoehler] | 220 / 7739 | |||
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(HPO:0003097) | Short femur | 13 / 7739 | ||||
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(HPO:0001385) | Hip dysplasia | Very frequent [Orphanet] | 242 / 7739 | |||
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(HPO:0002750) | Delayed skeletal maturation | Very frequent [Orphanet] | 250 / 7739 | |||
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(HPO:0005792) | Short humerus | 34 / 7739 | ||||
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(HPO:0011968) | Feeding difficulties | 240 / 7739 | ||||
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(HPO:0001511) | Intrauterine growth retardation | Very frequent [Orphanet] | 358 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
|
(HPO:0004325) | Decreased body weight | Very frequent [Orphanet] | 492 / 7739 | |||
|
(HPO:0001508) | Failure to thrive | 454 / 7739 | ||||
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(HPO:0000963) | Thin skin | Very frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0001006) | Hypotrichosis | Very frequent [Orphanet] | 219 / 7739 | |||
|
(HPO:0001792) | Small nail | 55 / 7739 | ||||
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(HPO:0007495) | Prematurely aged appearance | Very frequent [Orphanet] | 44 / 7739 | |||
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(HPO:0003758) | Reduced subcutaneous adipose tissue | 27 / 7739 | ||||
|
(HPO:0001043) | Prominent scalp veins | 3 / 7739 | ||||
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(HPO:0100678) | Premature skin wrinkling | 25 / 7739 | ||||
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(HPO:0030680) | Abnormality of cardiovascular system morphology | Occasional [Orphanet] | 355 / 7739 | |||
|
(HPO:0003220) | Abnormality of chromosome stability | Occasional [Orphanet] | 98 / 7739 | |||
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(HPO:0002155) | Hypertriglyceridemia | rare [HPO:skoehler] | 67 / 7739 | |||
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(HPO:0001601) | Laryngomalacia | Very frequent [Orphanet] | 61 / 7739 | |||
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(HPO:0002205) | Recurrent respiratory infections | 254 / 7739 | ||||
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(HPO:0001252) | Muscular hypotonia | 990 / 7739 | ||||
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(HPO:0010547) | Muscle flaccidity | 466 / 7739 | ||||
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(HPO:0001324) | Muscle weakness | 859 / 7739 | ||||
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(HPO:0008947) | Infantile muscular hypotonia | 482 / 7739 | ||||
|
(HPO:0007485) | Absence of subcutaneous fat | 6 / 7739 | ||||
|
(HPO:0100578) | Lipoatrophy | Very frequent [Orphanet] | 30 / 7739 | |||
|
(OMIM) | Progeroid appearance | 3 / 7739 | ||||
|
(OMIM) | Increased estradiol | 1 / 7739 | ||||
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(OMIM) | Widely open sutures | 1 / 7739 | ||||
|
(OMIM) | Trident configuration of acetabula | 1 / 7739 | ||||
|
(HPO:0002119) | Ventriculomegaly | Frequent [Orphanet] | 253 / 7739 | |||
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0030680) | Abnormality of cardiovascular system morphology | 355 / 7739 | ||||
|
(OMIM) | Fat accumulation in the suprabuttock area | 1 / 7739 | ||||
|
(OMIM) | Small, dense unerupted teeth | 1 / 7739 | ||||
|
(OMIM) | Persistent fontanelles | 1 / 7739 | ||||
|
(HPO:0002120) | Cerebral cortical atrophy | Frequent [Orphanet] | 187 / 7739 | |||
|
(OMIM) | Vertebral body hypoplasia | 1 / 7739 | ||||
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(OMIM) | Poor growth, postnatal | 8 / 7739 | ||||
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(OMIM) | Increased testosterone | 1 / 7739 | ||||
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(OMIM) | Irregular metaphyseal endplates | 1 / 7739 | ||||
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(OMIM) | Thin, wrinkled skin | 2 / 7739 | ||||
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(OMIM) | Increased T4 | 1 / 7739 | ||||
|
(HPO:0001522) | Death in infancy | Frequent [Orphanet] | 275 / 7739 | |||
|
(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0030088) | Increased serum testosterone level | 2 / 7739 | ||||
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(OMIM) | Pseudohydrocephalus | 1 / 7739 | ||||
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(OMIM) | Aged face | 1 / 7739 | ||||
|
(HPO:0003269) | Sudanophilic leukodystrophy | 3 / 7739 | ||||
|
(OMIM) | Apparent macrocephaly | 1 / 7739 | ||||
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(HPO:0003577) | Congenital onset | 133 / 7739 | ||||
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(OMIM) | Large feet | 12 / 7739 | ||||
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(OMIM) | Thin diaphyses | 1 / 7739 | ||||
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(OMIM) | Mental retardation, mild to severe | 14 / 7739 | ||||
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(OMIM) | Prominent abdomen | 7 / 7739 | ||||
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(OMIM) | Hypoplasia of the facial bones | 1 / 7739 | ||||
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(OMIM) | Increased prolactin | 1 / 7739 | ||||
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(OMIM) | Partly unossified atlas at birth | 1 / 7739 | ||||
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(OMIM) | Endocrine abnormalities, variable, (less common) | 1 / 7739 | ||||
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(OMIM) | Generalized lipoatrophy | 2 / 7739 | ||||
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(OMIM) | Beak-shaped nose | 1 / 7739 | ||||
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(OMIM) | Long thin bones with enlarged metaphyseal endplates (1 report) | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Description: (OMIM) |
The neonatal progeroid syndrome, also known as Wiedemann-Rautenstrauch syndrome, is a rare autosomal recessive disorder characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, variable mental impairment, and death in childhood (summary by ... |
Clinical Description OMIM |
Based on the observation of 2 sisters reported by Rautenstrauch et al. (1977) and 2 unrelated patients of his own, Wiedemann (1979) suggested the existence of a distinct neonatal progeroid syndrome showing autosomal recessive inheritance. Snigula and Rautenstrauch ... |