Wiedemann-Rautenstrauch syndrome
Findings
No curated finding names Wiedemann-Rautenstrauch syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism.
Definition from the Mondo Disease Ontology (MONDO:0009910), read 2026-09-29. CC BY 4.0.
Features
160 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Alopecia of scalpHPOHP:0002293
- 3 of 3 reported patients
- Convex nasal ridgeHPOHP:0000444
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- CryptorchidismHPOHP:0000028
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Depressed nasal bridgeHPOHP:0005280
- 3 of 3 reported patients
- Dry skinHPOHP:0000958
- 3 of 3 reported patients
- Generalized amyotrophyHPOHP:0003700
- 3 of 3 reported patients
- Low-set earsHPOHP:0000369
- 7 of 7 reported patients
- Frequent (30% to 79% of cases)
- MicrognathiaHPOHP:0000347
- 3 of 3 reported patients
- Pointed chinHPOHP:0000307
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Premature skin wrinklingHPOHP:0100678
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Prematurely aged appearanceHPOHP:0007495
- 7 of 7 reported patients
- Prominent foreheadHPOHP:0011220
- 3 of 3 reported patients
Show the remaining 148
- Prominent scalp veinsHPOHP:0001043
- 10 of 10 reported patients
- Very frequent (80% to 99% of cases)
- Reduced subcutaneous adipose tissueHPOHP:0003758
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Slender long boneHPOHP:0003100
- 7 of 7 reported patients
- Small for gestational ageHPOHP:0001518
- 7 of 7 reported patients
- Sparse scalp hairHPOHP:0002209
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Thin skinHPOHP:0000963
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- POLR3AHGNC:30074
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: Wiedemann-Rautenstrauch syndrome
- Also called
- neonatal progeroid syndromeWiedemann Rautenstrauch Syndrome