Rothmund-Thomson syndrome type 3
MONDO:0014347Mondo
Findings
No curated finding names Rothmund-Thomson syndrome type 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Congenital onset
HPO, annotations 2026-09-02
Features
21 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.
- Anteverted naresHPOHP:0000463
- 2 of 2 reported patients
- BrachydactylyHPOHP:0001156
- 2 of 2 reported patients
- Decreased body weightHPOHP:0004325
- 2 of 2 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 2 of 2 reported patients
- Frontal bossingHPOHP:0002007
- 2 of 2 reported patients
- High foreheadHPOHP:0000348
- 2 of 2 reported patients
- MicrocephalyHPOHP:0000252
- 2 of 2 reported patients
- OsteopeniaHPOHP:0000938
- 2 of 2 reported patients
- ProptosisHPOHP:0000520
- 2 of 2 reported patients
- Severe short statureHPOHP:0003510
- 2 of 2 reported patients
- Small for gestational ageHPOHP:0001518
- 4 of 4 reported patients
- Sparse eyebrowHPOHP:0045075
- 2 of 2 reported patients
Show the remaining 9
- Sparse scalp hairHPOHP:0002209
- 2 of 2 reported patients
- Talipes equinovarusHPOHP:0001762
- 2 of 2 reported patients
- TelecanthusHPOHP:0000506
- 2 of 2 reported patients
- AnemiaHPOHP:0001903
- 1 of 2 reported patients
- AnisopoikilocytosisHPOHP:0004823
- 1 of 2 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 1 of 2 reported patients
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.
- CRIPTHGNC:14312
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · G2P · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
2 names
Resolves to: Rothmund-Thomson syndrome type 3
- Also called
- Rothmund-Thomson syndrome, type 3short stature with microcephaly and distinctive facies